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110 results on '"Poletti G"'

1. Echocardiographic findings in apparently healthy Czechoslovakian wolfdogs

Author: Ivasovic, F., Poletti, G., and Baron Toaldo, M.
Published: 2024
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2. SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis

Author: Martinelli, G, Mancini, M, De Benedittis, C, Rondoni, M, Papayannidis, C, Manfrini, M, Meggendorfer, M, Calogero, R, Guadagnuolo, V, Fontana, M C, Bavaro, L, Padella, A, Zago, E, Pagano, L, Zanotti, R, Scaffidi, L, Specchia, G, Albano, F, Merante, S, Elena, C, Savini, P, Gangemi, D, Tosi, P, Ciceri, F, Poletti, G, Riccioni, L, Morigi, F, Delledonne, M, Haferlach, T, Cavo, M, Valent, P, and Soverini, S
Published: 2018
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3. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans

Author: Kim, Y, Mendoza-Revilla, J, Chacon-Duque, JC, Fuentes-Guajardo, M, Ormond, L, Wang, K, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera, R, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Rivera, KMB, Nieves-Colon, MA, Gignoux, CR, Wojcik, GL, Moreno-Estrada, A, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Fumagalli, M, Adhikari, K, Ruiz-Linares, A, Hellenthal, G, Kim, Y, Mendoza-Revilla, J, Chacon-Duque, JC, Fuentes-Guajardo, M, Ormond, L, Wang, K, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera, R, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Rivera, KMB, Nieves-Colon, MA, Gignoux, CR, Wojcik, GL, Moreno-Estrada, A, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Fumagalli, M, Adhikari, K, Ruiz-Linares, A, and Hellenthal, G
Abstract: Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.
Published: 2022

4. Robotica educativa tra gioco ed emozioni per una didattica inclusiva

Author: Poletti, G.
Subjects: SH4_11, Inclusione, Didattica, Sviluppo cognitivo, Inclusione, Didattica, Robotica educativa, Sviluppo cognitivo, Robotica educativa, NO
Published: 2022

5. Clotting factor genes are associated with preeclampsia in high altitude pregnant women in the Peruvian Andes

Author: Chen Jw, Celeste Eng, Malena Hurtado G, Maria A. Nieves-Colón, Poletti G, Enriquez Lencinas Le, Gonzalez Burchard E, Ortiz Tello P, Scott Huntsman, Moreno Estrada A, Condori Salas R, Genevieve L. Wojcik, Badillo Rivera Km, Gallo C, Cebrecos R, Erin Rawls, Sandoval Mendoza K, Alexandra Sockell, Zhang Et, Carlos Bustamante, Manzaneda Choque Jc, Manzaneda Choque Fp, Yabar Pilco Gp, Villanueva Davalos, Barker Jc, and Christopher R. Gignoux
Subjects: Clotting factor, Pregnancy, education.field_of_study, business.industry, Population, Genome-wide association study, Disease, medicine.disease, Health equity, Health care, Medicine, business, education, Blood sampling, Demography
Abstract: Study questionWhat is the genetic basis of preeclampsia in Andean families residing at high altitudes?Summary answerA top candidate region associated with preeclampsia containing clotting factor genesPROZ, F7andF10was found on chromosome 13 of the fetal genome in affected Andean families.What is known alreadyPreeclampsia, a multi-organ complication of pregnancy, is a leading cause of maternal morbidity and mortality worldwide. Diagnosed by the onset of maternal hypertension and proteinuria after 20 weeks of gestation, this disorder is a common cause of preterm delivery and affects approximately 5-7% of global pregnancies. The heterogeneity of preeclampsia has posed a challenge in understanding its etiology and molecular basis. However, risk for the condition is known to increase in high altitude regions such as the Peruvian Andes.Study design, size, durationTo investigate the genetic basis of preeclampsia in a high-altitude resident population, we characterized genetic diversity in a cohort of Andean families (N=883) from Puno, Peru, a high-altitude city above 3,500 meters. Our study collected DNA samples and medical records from case-control trios and duos between 2011-2016, thus allowing for measurement of maternal, paternal, and fetal genetic factors influencing preeclampsia risk.Participants/materials, setting, methodsWe generated high-density genotype data for 439,314 positions across the genome, determined ancestry patterns and mapped associations between genetic variants and preeclampsia phenotype. We also conducted fine mapping of potential causal variants in a subset of family participants and tested ProZ protein levels in post-partum maternal and cord blood plasma by ELISA.Main results and the role of chanceA transmission disequilibrium test (TDT) revealed variants near genes of biological importance in pregnancy physiology for placental and blood vessel function. The most significant SNP in this cluster, rs5960 (p−6) is a synonymous variant in the clotting factorF10. Two other members of the coagulation cascade,F7andPROZ, are also in the top associated region. However, we detected no difference of PROZ levels in maternal or umbilical cord plasma.Limitations, reasons for cautionOur genome-wide association analysis (GWAS) was limited by a small sample size and lack of functional follow up. Our ELISA was limited to post-natal blood sampling (only samples collected immediately after birth). But, despite a small sample size, our family based GWAS design permits identification of novel significant and suggestive associations with preeclampsia. Further longitudinal studies could analyze clotting factor levels and activity in other pregnant cohorts in Peru to assess the impact of thrombosis in preeclampsia risk among Andean highlanders.Wider implications of the findingsThese findings support previous evidence suggesting that coagulation plays an important role in the pathology of preeclampsia and potentially underlies susceptibility to other pregnancy disorders exacerbated at high altitudes. This discovery of a novel association related to a functional pathway relevant to pregnancy biology in an understudied population of Native American origin demonstrates the increased power of family-based study design and underscores the importance of conducting genetic research in diverse populations.Study funding/competing interest(s)This work was supported in part by the National Science Foundation (NSF) Graduate Research Fellowship Program Grant No. DGE–1147470 awarded to K.M.B.R. (fellow no. 2014187481); NSF SBE Postdoctoral Research Fellowship Award No. 1711982 awarded to M.N.C.; an A.P. Giannini Foundation postdoctoral fellowship, a Stanford Child Health Research Institute postdoctoral award, and a Stanford Dean’s Postdoctoral Fellowship awarded to E.T.Z.; the Chan Zuckerberg Biohub Investigator Award to C.D.B; a Burroughs Welcome Prematurity Initiative Award to J.C.B.; the George Rosenkranz Prize for Health Care Research in Developing Countries, and the International Center for Genetic Engineering and Biotechnology (ICGEB, Italy) grant CRP/ MEX15-04_EC, and Mexico’s CONACYT grant FONCICYT/50/2016, each awarded to A.M.E. Further funding was provided by the Sandler Family Foundation, the American Asthma Foundation, the RWJF Amos Medical Faculty Development Program, Harry Wm. and Diana V. Hind Distinguished Professor in Pharmaceutical Sciences II, National Institutes of Health, National Heart, Lung, and Blood Institute Awards R01HL117004, R01HL128439, R01HL135156, R01HL141992, National Institute of Health and Environmental Health Sciences Awards R01ES015794, R21ES24844, the National Institute on Minority Health and Health Disparities Awards R01MD010443, and R56MD013312, and the National Human Genome Research Institute Award U01HG009080, each awarded to E.G.B. Author J.W.C. is currently a full-time employee at Genentech, Inc. and hold stocks in Roche Holding AG. Author E.G.B. reports grants from the National Institute of Health, Lung, Blood Institute, the National Institute of Health, General Medical Sciences, the National Institute on Minority Health and Health Disparities, the Tobacco-Related Disease Research Program, the Food and Drug Administration, and the Sandler Family Foundation, during the conduct of the study.Trial registration numberN/A*for MESH terms see PubMed athttp://www.ncbi.nlm.nih.gov/pubmed/
Published: 2021

6. A GWAS identifies novel gene associations with facial skin wrinkling and mole count in Latin‐Americans

Author: Chen, Y., André, M., Adhikari, K., Blin, M., Bonfante, B., Mendoza‐Revilla, J., Fuentes‐Guajardo, M., Palmal, S., Chacón‐Duque, J.C., Hurtado, M., Villegas, V., Granja, V., Jaramillo, C., Arias, W., Lozano, R.B., Everardo‐Martínez, P., Gómez‐Valdés, J., Villamil‐Ramírez, H., de Cerqueira, C.C.S., Hünemeier, T., Ramallo, V., Gonzalez‐José, R., Schüler‐Faccini, L., Bortolini, M.‐C., Acuña‐Alonzo, V., Canizales‐Quinteros, S., Gallo, C., Poletti, G., Bedoya, G., Rothhammer, F., Balding, D., Tobin, D.J., Wang, S., Faux, P., Ruiz‐Linares, A., Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), and Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS)
Subjects: [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2021

7. A genome‐wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans

Author: Chen, Y., primary, André, M., additional, Adhikari, K., additional, Blin, M., additional, Bonfante, B., additional, Mendoza‐Revilla, J., additional, Fuentes‐Guajardo, M., additional, Palmal, S., additional, Chacón‐Duque, J.C., additional, Hurtado, M., additional, Villegas, V., additional, Granja, V., additional, Jaramillo, C., additional, Arias, W., additional, Lozano, R.B., additional, Everardo‐Martínez, P., additional, Gómez‐Valdés, J., additional, Villamil‐Ramírez, H., additional, Cerqueira, C.C.S., additional, Hünemeier, T., additional, Ramallo, V., additional, Gonzalez‐José, R., additional, Schüler‐Faccini, L., additional, Bortolini, M.‐C., additional, Acuña‐Alonzo, V., additional, Canizales‐Quinteros, S., additional, Gallo, C., additional, Poletti, G., additional, Bedoya, G., additional, Rothhammer, F., additional, Balding, D., additional, Tobin, D.J., additional, Wang, S., additional, Faux, P., additional, and Ruiz‐Linares, A., additional
Published: 2021
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8. Narrare la scienza: Strategie per la formazione [Tell the science: Training strategies]

Author: Poletti, G. and Gramigna, A.
Subjects: SH4_10, Storytelling, Epistemology, Autobiography, Education, Science, Science, Epistemologia, Epistemology, NO, Education, Narrazione, Epistemologia, Autobiografia, Formazione, Scienza, Narrazione, Storytelling, Formazione, Autobiografia, Autobiography, Scienza
Published: 2021

9. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

Author: Bonfante, B. (Betty), Faux, P. (Pierre), Navarro, N. (Nicolas), Mendoza-Revilla, J. (Javier), Dubied, M. (Morgane), Montillot, C. (Charlotte), Wentworth, E. (Emma), Poloni, L. (Lauriane), Varón-González, C. (Ceferino), Jones, P. (Philip), Xiong, Z. (Ziyi), Fuentes-Guajardo, M. (Macarena), Palmal, S. (Sagnik), Chacón-Duque, J.C. (Juan Camilo), Hurtado, M. (Malena), Villegas, V. (Valeria), Granja, V. (Vanessa), Jaramillo, C. (Claudia), Arias, W. (William), Barquera, R. (Rodrigo), Everardo-Martínez, P. (Paola), Sánchez-Quinto, M. (Mirsha), Gómez-Valdés, J. (Jorge), Villamil-Ramírez, H. (Hugo), Silva de Cerqueira, C.C. (Caio C.), Hünemeier, T. (Tábita), Ramallo, V. (Virginia), Liu, F. (Fan), Weinberg, S.M. (Seth M.), Shaffer, J.R. (John R), Stergiakouli, E. (Evie), Howe, L.J. (Laurence J.), Hysi, P.G. (Pirro G.), Spector, T.D. (Timothy D.), Gonzalez-José, R. (Rolando), Schüler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Acuña-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Thauvin-Robinet, C. (Christel), Faivre, L. (Laurence), Costedoat, C. (Caroline), Balding, D.J. (David), Cox, T. (Timothy), Kayser, M.H. (Manfred), Duplomb, L. (Laurence), Yalcin, B. (Binnaz), Cotney, J. (Justin), Adhikari, K. (Kaustubh), Ruiz-Linares, A. (Andres), Bonfante, B. (Betty), Faux, P. (Pierre), Navarro, N. (Nicolas), Mendoza-Revilla, J. (Javier), Dubied, M. (Morgane), Montillot, C. (Charlotte), Wentworth, E. (Emma), Poloni, L. (Lauriane), Varón-González, C. (Ceferino), Jones, P. (Philip), Xiong, Z. (Ziyi), Fuentes-Guajardo, M. (Macarena), Palmal, S. (Sagnik), Chacón-Duque, J.C. (Juan Camilo), Hurtado, M. (Malena), Villegas, V. (Valeria), Granja, V. (Vanessa), Jaramillo, C. (Claudia), Arias, W. (William), Barquera, R. (Rodrigo), Everardo-Martínez, P. (Paola), Sánchez-Quinto, M. (Mirsha), Gómez-Valdés, J. (Jorge), Villamil-Ramírez, H. (Hugo), Silva de Cerqueira, C.C. (Caio C.), Hünemeier, T. (Tábita), Ramallo, V. (Virginia), Liu, F. (Fan), Weinberg, S.M. (Seth M.), Shaffer, J.R. (John R), Stergiakouli, E. (Evie), Howe, L.J. (Laurence J.), Hysi, P.G. (Pirro G.), Spector, T.D. (Timothy D.), Gonzalez-José, R. (Rolando), Schüler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Acuña-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Thauvin-Robinet, C. (Christel), Faivre, L. (Laurence), Costedoat, C. (Caroline), Balding, D.J. (David), Cox, T. (Timothy), Kayser, M.H. (Manfred), Duplomb, L. (Laurence), Yalcin, B. (Binnaz), Cotney, J. (Justin), Adhikari, K. (Kaustubh), and Ruiz-Linares, A. (Andres)
Abstract: To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.
Published: 2021
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10. Prediction of eye, hair and skin colour in Latin Americans

Author: Palmal, S, Adhikari, K, Mendoza-Revilla, J, Fuentes-Guajardo, M, de Cerqueira, CCS, Bonfante, B, Chacon-Duque, JC, Sohail, A, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Everardo-Martinez, P, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Parolin, M-L, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, M-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Faux, P, Ruiz-Linares, A, Palmal, S, Adhikari, K, Mendoza-Revilla, J, Fuentes-Guajardo, M, de Cerqueira, CCS, Bonfante, B, Chacon-Duque, JC, Sohail, A, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Everardo-Martinez, P, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Parolin, M-L, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, M-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Faux, P, and Ruiz-Linares, A
Abstract: Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical pigmentation phenotypes - the CANDELA dataset CAN). We evaluated accuracy in relation to different analytical methods and various phenotypic predictors. As expected from statistical principles, we observe that quantitative traits are more sensitive to changes in the prediction models than categorical traits. We find that Random Forest or Linear Regression are generally the best performing methods. We also compare the prediction accuracy of SNP sets defined in the CAN dataset (including 56, 101 and 120 SNPs for eye, hair and skin colour prediction, respectively) to the well-established HIrisPlex-S SNP set (including 6, 22 and 36 SNPs for eye, hair and skin colour prediction respectively). When training prediction models on the CAN data, we observe remarkably similar performances for HIrisPlex-S and the larger CAN SNP sets for the prediction of hair (categorical) and eye (both categorical and quantitative), while the CAN sets outperform HIrisPlex-S for quantitative, but not for categorical skin pigmentation prediction. The performance of HIrisPlex-S, when models are trained in a world-wide sample (although consisting of 80% Europeans, https://hirisplex.erasmusmc.nl), is lower relative to training in the CAN data (particularly for hair and skin colour). Altogether, our observations are consistent with common variation of eye and hair colour having a relatively simple genetic architecture, which is well captured by HIrisPlex-S, even in admixed Latin Americans (with partial European ancestry). By contrast, since skin pigmentation is a more polygenic trait, accuracy is more sensitive to prediction SNP set size, although here this effect was only apparent for a quantitative measure of skin pigmentation. Our results support the use of HIrisPlex-S in the pr
Published: 2021

11. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

Author: Bonfante, B, Faux, P, Navarro, N, Mendoza-Revilla, J, Dubied, M, Montillot, C, Wentworth, E, Poloni, L, Varon-Gonzalez, C, Jones, P, Xiong, Z, Fuentes-Guajardo, M, Palmal, S, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Barquera, R, Everardo-Martinez, P, Sanchez-Quinto, M, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Hunemeier, T, Ramallo, V, Liu, F, Weinber, SM, Shaffer, JR, Stergiakouli, E, Howe, LJ, Hysi, PG, Spector, TD, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, R-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Thauvin-Robinet, C, Faivre, L, Costedoat, C, Balding, D, Cox, T, Kayser, M, Duplomb, L, Yalcin, B, Cotney, J, Adhikari, K, Ruiz-Linares, A, Bonfante, B, Faux, P, Navarro, N, Mendoza-Revilla, J, Dubied, M, Montillot, C, Wentworth, E, Poloni, L, Varon-Gonzalez, C, Jones, P, Xiong, Z, Fuentes-Guajardo, M, Palmal, S, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Barquera, R, Everardo-Martinez, P, Sanchez-Quinto, M, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Hunemeier, T, Ramallo, V, Liu, F, Weinber, SM, Shaffer, JR, Stergiakouli, E, Howe, LJ, Hysi, PG, Spector, TD, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, R-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Thauvin-Robinet, C, Faivre, L, Costedoat, C, Balding, D, Cox, T, Kayser, M, Duplomb, L, Yalcin, B, Cotney, J, Adhikari, K, and Ruiz-Linares, A
Abstract: To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.
Published: 2021

12. A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans

Author: Chen, Y, Andre, M, Adhikari, K, Blin, M, Bonfante, B, Mendoza-Revilla, J, Fuentes-Guajardo, M, Palmal, S, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Lozano, RB, Everardo-Martinez, P, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Hunemeier, T, Ramallo, V, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, M-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Tobin, DJ, Wang, S, Faux, P, Ruiz-Linares, A, Chen, Y, Andre, M, Adhikari, K, Blin, M, Bonfante, B, Mendoza-Revilla, J, Fuentes-Guajardo, M, Palmal, S, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Lozano, RB, Everardo-Martinez, P, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Hunemeier, T, Ramallo, V, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, M-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Tobin, DJ, Wang, S, Faux, P, and Ruiz-Linares, A
Abstract: BACKGROUND: Genome-wide association studies (GWASs) have identified genes influencing skin ageing and mole count in Europeans, but little is known about the relevance of these (or other genes) in non-Europeans. OBJECTIVES: To conduct a GWAS for facial skin ageing and mole count in adults < 40 years old, of mixed European, Native American and African ancestry, recruited in Latin America. METHODS: Skin ageing and mole count scores were obtained from facial photographs of over 6000 individuals. After quality control checks, three wrinkling traits and mole count were retained for genetic analyses. DNA samples were genotyped with Illumina's HumanOmniExpress chip. Association testing was performed on around 8 703 729 single-nucleotide polymorphisms (SNPs) across the autosomal genome. RESULTS: Genome-wide significant association was observed at four genome regions: two were associated with wrinkling (in 1p13·3 and 21q21·2), one with mole count (in 1q32·3) and one with both wrinkling and mole count (in 5p13·2). Associated SNPs in 5p13·2 and in 1p13·3 are intronic within SLC45A2 and VAV3, respectively, while SNPs in 1q32·3 are near the SLC30A1 gene, and those in 21q21·2 occur in a gene desert. Analyses of SNPs in IRF4 and MC1R are consistent with a role of these genes in skin ageing. CONCLUSIONS: We replicate the association of wrinkling with variants in SLC45A2, IRF4 and MC1R reported in Europeans. We identify VAV3 and SLC30A1 as two novel candidate genes impacting on wrinkling and mole count, respectively. We provide the first evidence that SLC45A2 influences mole count, in addition to variants in this gene affecting melanoma risk in Europeans.
Published: 2021

13. Abstracts from the 13th EUROCAT SCIENTIFIC SYMPOSIUM: Advancing congenital anomaly research through collaboration, 16-17 June 2016, Milan, Italy

Author: Vinkel-Hansen, A, Garne, E, Andersen AMN, poletti g, cocchi g, rocca a, Vinkel-Hansen, A, Garne, E, and Andersen, AMN, poletti g, cocchi g, rocca a
Subjects: Embryology, Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Congenital diaphragmatic hernia, General Medicine, medicine.disease, business, Developmental Biology
Published: 2016

14. Novel genetic loci affecting facial shape variation in humans

Author: Xiong, Z. (Ziyi), Dankova, G. (Gabriela), Howe, L.J. (Laurence J.), Lee, M.K. (Myoung Keun), Hysi, P.G. (Pirro G.), Jong, M.A. (Markus) de, Zhu, G. (Gu), Adhikari, K. (Kaustubh), Li, D. (Dan), Li, Y. (Yi), Pan, B. (Bo), Feingold, E. (Eleanor), Marazita, M.L. (Mary), Shaffer, J.R. (John R), McAloney, K. (Kerrie), Xu, S. (Shuhua), Jin, L. (Li), Wang, S. (Sijia), Vrij, F.M.S. (Femke), Lendemeijer, B. (Bas), Richmond, S. (Stephen), Zhurov, A. (Alexei), Lewis, S. (Sarah), Sharp, G.C. (Gemma C.), Paternoster, L. (Lavinia), Thompson, H. (Holly), Gonzalez-Jose, R. (Rolando), Bortolini, M.C. (Maria Catira), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Wolvius, E.B. (Eppo), Kushner, S.A. (Steven), Nijsten, T.E.C. (Tamar), Palstra, R.-J.T.S. (Robert-Jan), Boehringer, S. (Stefan), Medland, S.E. (Sarah), Tang, K. (Kun), Ruiz-Linares, A. (Andres), Martin, N.G. (Nicholas), Spector, T.D. (Timothy), Stergiakouli, E. (Evie), Weinberg, S.M. (Seth M.), Liu, F. (Fan), Kayser, M.H. (Manfred), Xiong, Z. (Ziyi), Dankova, G. (Gabriela), Howe, L.J. (Laurence J.), Lee, M.K. (Myoung Keun), Hysi, P.G. (Pirro G.), Jong, M.A. (Markus) de, Zhu, G. (Gu), Adhikari, K. (Kaustubh), Li, D. (Dan), Li, Y. (Yi), Pan, B. (Bo), Feingold, E. (Eleanor), Marazita, M.L. (Mary), Shaffer, J.R. (John R), McAloney, K. (Kerrie), Xu, S. (Shuhua), Jin, L. (Li), Wang, S. (Sijia), Vrij, F.M.S. (Femke), Lendemeijer, B. (Bas), Richmond, S. (Stephen), Zhurov, A. (Alexei), Lewis, S. (Sarah), Sharp, G.C. (Gemma C.), Paternoster, L. (Lavinia), Thompson, H. (Holly), Gonzalez-Jose, R. (Rolando), Bortolini, M.C. (Maria Catira), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Wolvius, E.B. (Eppo), Kushner, S.A. (Steven), Nijsten, T.E.C. (Tamar), Palstra, R.-J.T.S. (Robert-Jan), Boehringer, S. (Stefan), Medland, S.E. (Sarah), Tang, K. (Kun), Ruiz-Linares, A. (Andres), Martin, N.G. (Nicholas), Spector, T.D. (Timothy), Stergiakouli, E. (Evie), Weinberg, S.M. (Seth M.), Liu, F. (Fan), and Kayser, M.H. (Manfred)
Abstract: The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (padjusted < 2.1 × 10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.
Published: 2019
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15. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

Author: Adhikari, K, Mendoza-Revilla, J, Sohail, A, Fuentes-Guajardo, M, Lampert, J, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Everardo, P, Gomez-Valdes, J, Villamil-Ramirez, H, Silva de Cerqueira, CC, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Salzano, FM, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Tobin, DJ, Fumagalli, M, Balding, D, Ruiz-Linares, A, Adhikari, K, Mendoza-Revilla, J, Sohail, A, Fuentes-Guajardo, M, Lampert, J, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Everardo, P, Gomez-Valdes, J, Villamil-Ramirez, H, Silva de Cerqueira, CC, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Salzano, FM, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Tobin, DJ, Fumagalli, M, Balding, D, and Ruiz-Linares, A
Abstract: We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.
Published: 2019

16. Latin Americans show wide-spread Converso ancestry and the imprint of local Native ancestry on physical appearance

Author: Chacon-Duque, J., Adhikari, K., Fuentes-Guajardo, M., Mendoza-Revilla, J., Acuna-Alonzo, V., Barquera Lozano, R., Quinto-Sanchez, M., Gomez-Valdes, J., Everardo Martinez, P., Villamil-Ramirez, H., Hunemeier, T., Ramallo, V., Silva de Cerqueira, C., Hurtado, M., Villegas, V., Granja, V., Villena, M., Vasquez, R., Llop, E., Sandoval, J., Salazar-Granara, A., Parolin, M., Sandoval, K., Penaloza-Espinosa, R., Rangel-Villalobos, H., Winkler, C., Klitz, W., Bravi, C., Molina, J., Corach, D., Barrantes, R., Gomes, V., Resende, C., Gusmao, L., Amorim, A., Xue, Y., Dugoujon, J., Moral, P., Gonzalez-Jose, R., Schuler-Faccini, L., Salzano, F., Bortolini, M., Canizales-Quinteros, S., Poletti, G., Gallo, C., Bedoya, G., Rothhammer, F., Balding, D., Hellenthal, G., and Ruiz-Linares, A.
Subjects: parasitic diseases
Abstract: Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the admixture of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods here we infer the sub-populations involved in admixture for over 6,500 Latin Americans and evaluate the impact of sub-continental ancestry on the physical appearance of these individuals. We find that pre-Columbian Native genetic structure is mirrored in Latin Americans and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that Central Andean ancestry impacts on variation of facial features in Latin Americans, particularly nose morphology, possibly relating to environmental adaptation during the evolution of Native Americans.
Published: 2018

17. Problems and Educational Responses in the Age of Digital Technologies: Educational Robotics like Pedagogical Philosophy

Author: Gramigna, A. and Poletti, G.
Subjects: Education, Learning, Robotics, SH4_4, NO
Published: 2018

18. Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

Author: Wu, S. (Sijie), Zhang, M. (Manfei), Yang, X. (Xinzhou), Peng, F. (Fuduan), Zhang, J. (Juan), Tan, J. (Jingze), Yang, Y. (Yajun), Wang, L. (Lina), Hu, Y. (Yanan), Peng, Q. (Qianqian), Li, J. (Jinxi), Liu, Y. (Yu), Guan, Y. (Yaqun), Chen, C. (Chen), Hamer, M.A. (Merel), Nijsten, T.E.C. (Tamar), Zeng, C. (Changqing), Adhikari, K. (Kaustubh), Gallo, C. (Carla), Poletti, G. (Giovanni), Schuler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Canizales-Quinteros, S. (Samuel), Rothhammer, F. (Francisco), Bedoya, E.G. (Elsie), González-José, R. (Rolando), Li, H. (Hui), Krutmann, J. (Jean), Liu, F. (Fan), Kayser, M.H. (Manfred), Ruiz-Linares, A. (Andres), Tang, K. (Kun), Xu, S. (Shuhua), Zhang, L. (Liang), Jin, L. (Li), Wang, S. (Sijia), Wu, S. (Sijie), Zhang, M. (Manfei), Yang, X. (Xinzhou), Peng, F. (Fuduan), Zhang, J. (Juan), Tan, J. (Jingze), Yang, Y. (Yajun), Wang, L. (Lina), Hu, Y. (Yanan), Peng, Q. (Qianqian), Li, J. (Jinxi), Liu, Y. (Yu), Guan, Y. (Yaqun), Chen, C. (Chen), Hamer, M.A. (Merel), Nijsten, T.E.C. (Tamar), Zeng, C. (Changqing), Adhikari, K. (Kaustubh), Gallo, C. (Carla), Poletti, G. (Giovanni), Schuler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Canizales-Quinteros, S. (Samuel), Rothhammer, F. (Francisco), Bedoya, E.G. (Elsie), González-José, R. (Rolando), Li, H. (Hui), Krutmann, J. (Jean), Liu, F. (Fan), Kayser, M.H. (Manfred), Ruiz-Linares, A. (Andres), Tang, K. (Kun), Xu, S. (Shuhua), Zhang, L. (Liang), Jin, L. (Li), and Wang, S. (Sijia)
Abstract: Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be subject to sexual selection. Nevertheless, few genomic studies have explored its genetic basis. Here, we performed a genome-wide scan for eyebrow thickness in 2961 Han Chinese. We identified two new loci of genome-wide significance, at 3q26.33 near SOX2 (rs1345417: P = 6.51×10−10) and at 5q13.2 near FOXD1 (rs12651896: P = 1.73×10−8). We further replicated our findings in the Uyghurs, a population from China characterized by East Asian-European admixture (N = 721), the CANDELA cohort from five Latin American countries (N = 2301), and the Rotterdam Study cohort of Dutch Europeans (N = 4411). A meta-analysis combining the full GWAS results from the three cohorts of full or partial Asian descent (Han Chinese, Uyghur and Latin Americans, N = 5983) highlighted a third signal of genome-wide significance at 2q12.3 (rs1866188: P = 5.81×10−11) near EDAR. We performed fine-mapping and prioritized four variants for further experimental verification. CRISPR/Cas9-mediated gene editing provided evidence that rs1345417 and rs12651896 affect the transcriptional activity of the nearby SOX2 and FOXD1 genes, which are both involved in hair development. Finally, suitable statistical analyses revealed that none of the associated variants showed clear signals of selection in any of the pop
Published: 2018
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19. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Author: Liu, F. (Fan), Chen, Y. (Yan), Zhu, G. (Gu), Hysi, P.G. (Pirro), Wu, S. (Sijie), Adhikari, K. (Kaustubh), Breslin, K. (Krystal), Pośpiech, E. (Ewelina), Hamer, M.A. (Merel), Peng, F. (Fuduan), Muralidharan, C. (Charanya), Acuna-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Bedoya, E.G. (Elsie), Gallo, C. (Carla), Poletti, G. (Giovanni), Rothhammer, F. (Francisco), Bortolini, M.C. (Maria Catira), Gonzalez-Jose, R. (Rolando), Zeng, C. (Changqing), Xu, S. (Shuhua), Jin, L. (Li), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Duijn, C.M. (Cornelia) van, Nijsten, T.E.C. (Tamar), Walsh, S. (Susan), Branicki, W. (Wojciech), Wang, S. (Sijia), Ruiz-Linares, A. (Andres), Spector, T.D. (Timothy), Martin, N.G. (Nicholas G.), Medland, S.E. (Sarah), Kayser, M.H. (Manfred), Liu, F. (Fan), Chen, Y. (Yan), Zhu, G. (Gu), Hysi, P.G. (Pirro), Wu, S. (Sijie), Adhikari, K. (Kaustubh), Breslin, K. (Krystal), Pośpiech, E. (Ewelina), Hamer, M.A. (Merel), Peng, F. (Fuduan), Muralidharan, C. (Charanya), Acuna-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Bedoya, E.G. (Elsie), Gallo, C. (Carla), Poletti, G. (Giovanni), Rothhammer, F. (Francisco), Bortolini, M.C. (Maria Catira), Gonzalez-Jose, R. (Rolando), Zeng, C. (Changqing), Xu, S. (Shuhua), Jin, L. (Li), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Duijn, C.M. (Cornelia) van, Nijsten, T.E.C. (Tamar), Walsh, S. (Susan), Branicki, W. (Wojciech), Wang, S. (Sijia), Ruiz-Linares, A. (Andres), Spector, T.D. (Timothy), Martin, N.G. (Nicholas G.), Medland, S.E. (Sarah), and Kayser, M.H. (Manfred)
Abstract: Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 E
Published: 2018
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20. Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Author: Chacon-Duque, J-C, Adhikari, K, Fuentes-Guajardo, M, Mendoza-Revilla, J, Acuna-Alonzo, V, Barquera, R, Quinto-Sanchez, M, Gomez-Valdes, J, Everardo Martinez, P, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Villena, M, Vasquez, R, Llop, E, Sandoval, JR, Salazar-Granara, AA, Parolin, M-L, Sandoval, K, Penaloza-Espinosa, RI, Rangel-Villalobos, H, Winkler, CA, Klitz, W, Bravi, C, Molina, J, Corach, D, Barrantes, R, Gomes, V, Resende, C, Gusmao, L, Amorim, A, Xue, Y, Dugoujon, J-M, Moral, P, Gonzalez-Jose, R, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Poletti, G, Gallo, C, Bedoya, G, Rothhammer, F, Balding, D, Hellenthal, G, Ruiz-Linares, A, Chacon-Duque, J-C, Adhikari, K, Fuentes-Guajardo, M, Mendoza-Revilla, J, Acuna-Alonzo, V, Barquera, R, Quinto-Sanchez, M, Gomez-Valdes, J, Everardo Martinez, P, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Villena, M, Vasquez, R, Llop, E, Sandoval, JR, Salazar-Granara, AA, Parolin, M-L, Sandoval, K, Penaloza-Espinosa, RI, Rangel-Villalobos, H, Winkler, CA, Klitz, W, Bravi, C, Molina, J, Corach, D, Barrantes, R, Gomes, V, Resende, C, Gusmao, L, Amorim, A, Xue, Y, Dugoujon, J-M, Moral, P, Gonzalez-Jose, R, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Poletti, G, Gallo, C, Bedoya, G, Rothhammer, F, Balding, D, Hellenthal, G, and Ruiz-Linares, A
Abstract: Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.
Published: 2018

21. Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

Author: Wu, SJ, Zhang, MF, Yang, XZ, Peng, FD, Zhang, J, Tan, JZ, Yang, YJ, Wang, LN (Lina), Hu, YN, Peng, QQ, Li, JX, Liu, Y, Guan, YQ, Chen, C, Hamer, Merel, Nijsten, Tamar, Zeng, CQ, Adhikari, K, Gallo, C, Poletti, G, Schuler-Faccini, L, Bortolini, MC, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Gonzalez-Jose, R, Li, H, Krutmann, J, Liu, Fan, Kayser, Manfred, Ruiz-Linares, A, Tang, K, Xu, SH, Zhang, Lei, Jin, L, Wang, SJ, Wu, SJ, Zhang, MF, Yang, XZ, Peng, FD, Zhang, J, Tan, JZ, Yang, YJ, Wang, LN (Lina), Hu, YN, Peng, QQ, Li, JX, Liu, Y, Guan, YQ, Chen, C, Hamer, Merel, Nijsten, Tamar, Zeng, CQ, Adhikari, K, Gallo, C, Poletti, G, Schuler-Faccini, L, Bortolini, MC, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Gonzalez-Jose, R, Li, H, Krutmann, J, Liu, Fan, Kayser, Manfred, Ruiz-Linares, A, Tang, K, Xu, SH, Zhang, Lei, Jin, L, and Wang, SJ
Published: 2018

22. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Author: Liu, Fan, Chen, Y, Zhu, G, Hysi, PG, Wu, SJ, Adhikari, K, Breslin, K, Pospiech, E, Hamer, Merel, Peng, FD, Muralidharan, C, Acuna-Alonzo, V, Canizales-Quinteros, S, Bedoya, G, Gallo, C, Poletti, G, Rothhammer, F, Bortolini, MC, Gonzalez-Jose, R, Zeng, CQ, Xu, SH, Jin, L, Uitterlinden, André, Ikram, Arfan, Duijn, Cornelia, Nijsten, Tamar, Walsh, Susan, Branicki, W, Wang, SJ, Ruiz-Linares, A, Spector, TD, Martin, NG, Medland, SE, Kayser, Manfred, Liu, Fan, Chen, Y, Zhu, G, Hysi, PG, Wu, SJ, Adhikari, K, Breslin, K, Pospiech, E, Hamer, Merel, Peng, FD, Muralidharan, C, Acuna-Alonzo, V, Canizales-Quinteros, S, Bedoya, G, Gallo, C, Poletti, G, Rothhammer, F, Bortolini, MC, Gonzalez-Jose, R, Zeng, CQ, Xu, SH, Jin, L, Uitterlinden, André, Ikram, Arfan, Duijn, Cornelia, Nijsten, Tamar, Walsh, Susan, Branicki, W, Wang, SJ, Ruiz-Linares, A, Spector, TD, Martin, NG, Medland, SE, and Kayser, Manfred
Published: 2018

23. University exams at the time of Covid-19 The reactions of students between emotionality and cognition

Author: Poletti Giorgio and Gramigna Anita
Subjects: emotion, training, verify, metacognition, covid-19, Education (General), L7-991, Communication. Mass media, P87-96
Abstract: This research aims to explore the reactions of students in the face of the pandemic emergency in progress, also in relation to the need and novelty of distance learning, a form in which there is no physical coexistence, in the classroom of teachers and students, and which mainly uses online tools.
Published: 2022
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24. SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis

Author: Martinelli, G, primary, Mancini, M, additional, De Benedittis, C, additional, Rondoni, M, additional, Papayannidis, C, additional, Manfrini, M, additional, Meggendorfer, M, additional, Calogero, R, additional, Guadagnuolo, V, additional, Fontana, M C, additional, Bavaro, L, additional, Padella, A, additional, Zago, E, additional, Pagano, L, additional, Zanotti, R, additional, Scaffidi, L, additional, Specchia, G, additional, Albano, F, additional, Merante, S, additional, Elena, C, additional, Savini, P, additional, Gangemi, D, additional, Tosi, P, additional, Ciceri, F, additional, Poletti, G, additional, Riccioni, L, additional, Morigi, F, additional, Delledonne, M, additional, Haferlach, T, additional, Cavo, M, additional, Valent, P, additional, and Soverini, S, additional
Published: 2017
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25. Serum Total Tryptase Level Confirms Itself as a More Reliable Marker of Mast Cells Burden in Mast Cell Leukaemia (Aleukaemic Variant)

Author: Savini, P., Rondoni, M., Poletti, G., Lanzi, A., Quercia, O., Soverini, S., De Benedittis, C., Musardo, G., Martinelli, G., and Stefanini, G. F.
Subjects: Article Subject
Abstract: Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) with a short median survival of 6 months. We describe a case of a 65-year-old woman with aleukaemic variant of MCL with a very high serum total tryptase level of 2255 μg/L at diagnosis, which occurred following an episode of hypotensive shock. She fulfilled the diagnostic criteria of SM, with a bone marrow smear infiltration of 50–60% of atypical mast cells (MCs). She tested negative for the KIT D816V mutation, without any sign of organ damage (no B- or C-findings) and only few mediator-related symptoms. She was treated with antihistamine alone and then with imatinib for the appearance of anemia. She maintained stable tryptase level and a very indolent clinical course for twenty-two months; then, she suddenly progressed to acute MCL with a serum tryptase level up to 12960 μg/L. The patient died due to haemorrhagic diathesis twenty-four months after diagnosis. This clinical case maybe represents an example of the chronic form of mast cell leukemia, described as unpredictable disease, in which the serum total tryptase level has confirmed itself as a reliable marker of mast cells burden regardless of the presence of other signs or symptoms.
Published: 2015
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26. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

Author: Adhikari, K, Fontanil, T, Cal, S, Mendoza-Revilla, J, Fuentes-Guajardo, M, Chacon-Duque, J-C, Al-Saadi, F, Johansson, JA, Quinto-Sanchez, M, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Gonzalez-Jose, R, Headon, D, Lopez-Otin, C, Tobin, DJ, Balding, D, Ruiz-Linares, A, Adhikari, K, Fontanil, T, Cal, S, Mendoza-Revilla, J, Fuentes-Guajardo, M, Chacon-Duque, J-C, Al-Saadi, F, Johansson, JA, Quinto-Sanchez, M, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Gonzalez-Jose, R, Headon, D, Lopez-Otin, C, Tobin, DJ, Balding, D, and Ruiz-Linares, A
Abstract: We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.
Published: 2016

27. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Author: Adhikari, K, Fuentes-Guajardo, M, Quinto-Sanchez, M, Mendoza-Revilla, J, Chacon-Duque, JC, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Cheeseman, M, Rosique, J, Bedoya, G, Rothhammer, F, Headon, D, Gonzalez-Jose, R, Balding, D, Ruiz-Linares, A, Adhikari, K, Fuentes-Guajardo, M, Quinto-Sanchez, M, Mendoza-Revilla, J, Chacon-Duque, JC, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Cheeseman, M, Rosique, J, Bedoya, G, Rothhammer, F, Headon, D, Gonzalez-Jose, R, Balding, D, and Ruiz-Linares, A
Abstract: We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.
Published: 2016

28. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Author: Mallick, S, Li, H, Lipson, M, Mathieson, I, Gymrek, M, Racimo, F, Zhao, M, Chennagiri, N, Nordenfelt, S, Tandon, A, Skoglund, P, Lazaridis, I, Sankararaman, S, Fu, Q, Rohland, N, Renaud, G, Erlich, Y, Willems, T, Gallo, C, Spence, JP, Song, YS, Poletti, G, Balloux, F, van Driem, G, de Knijff, P, Romero, IG, Jha, AR, Behar, DM, Bravi, CM, Capelli, C, Hervig, T, Moreno-Estrada, A, Posukh, OL, Balanovska, E, Balanovsky, O, Karachanak-Yankova, S, Sahakyan, H, Toncheva, D, Yepiskoposyan, L, Tyler-Smith, C, Xue, Y, Abdullah, MS, Ruiz-Linares, A, Beall, CM, Di Rienzo, A, Jeong, C, Starikovskaya, EB, Metspalu, E, Parik, J, Villems, R, Henn, BM, Hodoglugil, U, Mahley, R, Sajantila, A, Stamatoyannopoulos, G, Wee, JTS, Khusainova, R, Khusnutdinova, E, Litvinov, S, Ayodo, G, Comas, D, Hammer, MF, Kivisild, T, Klitz, W, Winkler, CA, Labuda, D, Bamshad, M, Jorde, LB, Tishkoff, SA, Watkins, WS, Metspalu, M, Dryomov, S, Sukernik, R, Singh, L, Thangaraj, K, Paeaebo, S, Kelso, J, Patterson, N, Reich, D, Mallick, S, Li, H, Lipson, M, Mathieson, I, Gymrek, M, Racimo, F, Zhao, M, Chennagiri, N, Nordenfelt, S, Tandon, A, Skoglund, P, Lazaridis, I, Sankararaman, S, Fu, Q, Rohland, N, Renaud, G, Erlich, Y, Willems, T, Gallo, C, Spence, JP, Song, YS, Poletti, G, Balloux, F, van Driem, G, de Knijff, P, Romero, IG, Jha, AR, Behar, DM, Bravi, CM, Capelli, C, Hervig, T, Moreno-Estrada, A, Posukh, OL, Balanovska, E, Balanovsky, O, Karachanak-Yankova, S, Sahakyan, H, Toncheva, D, Yepiskoposyan, L, Tyler-Smith, C, Xue, Y, Abdullah, MS, Ruiz-Linares, A, Beall, CM, Di Rienzo, A, Jeong, C, Starikovskaya, EB, Metspalu, E, Parik, J, Villems, R, Henn, BM, Hodoglugil, U, Mahley, R, Sajantila, A, Stamatoyannopoulos, G, Wee, JTS, Khusainova, R, Khusnutdinova, E, Litvinov, S, Ayodo, G, Comas, D, Hammer, MF, Kivisild, T, Klitz, W, Winkler, CA, Labuda, D, Bamshad, M, Jorde, LB, Tishkoff, SA, Watkins, WS, Metspalu, M, Dryomov, S, Sukernik, R, Singh, L, Thangaraj, K, Paeaebo, S, Kelso, J, Patterson, N, and Reich, D
Abstract: Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
Published: 2016

29. Fire-eaterâ€™s pneumonitis

Author: Grossi, E., primary, Crisanti, E., additional, Poletti, G., additional, and Poletti, V., additional
Published: 2016
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30. A genome-wide association study identifies multiple loci for variation in human ear morphology

Author: Adhikari, K, Reales, G, Smith, AJP, Konka, E, Palmen, J, Quinto-Sanchez, M, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Fuentes, M, Pizarro, M, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Calderon, R, Rosique, J, Cheeseman, M, Bhutta, MF, Humphries, SE, Gonzalez-Jose, R, Headon, D, Balding, D, Ruiz-Linares, A, Adhikari, K, Reales, G, Smith, AJP, Konka, E, Palmen, J, Quinto-Sanchez, M, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Fuentes, M, Pizarro, M, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Calderon, R, Rosique, J, Cheeseman, M, Bhutta, MF, Humphries, SE, Gonzalez-Jose, R, Headon, D, Balding, D, and Ruiz-Linares, A
Abstract: Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10(-8) to 3 × 10(-14)). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1.
Published: 2015

31. SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis

Author: T Haferlach, Livio Pagano, Massimo Delledonne, Simona Soverini, Antonella Padella, Fabio Ciceri, Patrizia Tosi, L Riccioni, Marco Manfrini, Giovanni Martinelli, Manja Meggendorfer, Serena Merante, F Morigi, C De Benedittis, Domenica Gangemi, Luana Bavaro, Michela Rondoni, Manuela Mancini, Roberta Zanotti, Paolo Savini, Viviana Guadagnuolo, Giovanni Poletti, Michele Cavo, Maria Chiara Fontana, Luigi Scaffidi, Chiara Elena, Giorgina Specchia, Francesco Albano, Elisa Zago, Peter Valent, Raffaele A. Calogero, Cristina Papayannidis, Martinelli, G., Mancini, M., De Benedittis, C., Rondoni, M., Papayannidis, C., Manfrini, M., Meggendorfer, M., Calogero, R., Guadagnuolo, V., Fontana, M. C., Bavaro, L., Padella, A., Zago, E., Pagano, L., Zanotti, R., Scaffidi, L., Specchia, G., Albano, F., Merante, S., Elena, C., Savini, P., Gangemi, D., Tosi, P., Ciceri, F., Poletti, G., Riccioni, L., Morigi, F., Delledonne, M., Haferlach, T., Cavo, M., Valent, P., Soverini, S., Martinelli, G, Mancini, M, De Benedittis, C, Rondoni, M, Papayannidis, C, Manfrini, M, Meggendorfer, M, Calogero, R, Guadagnuolo, V, Fontana, M. C, Bavaro, L, Padella, A, Zago, E, Pagano, L, Zanotti, R, Scaffidi, L, Specchia, G, Albano, F, Merante, S, Elena, C, Savini, P, Gangemi, D, Tosi, P, Ciceri, F, Poletti, G, Riccioni, L, Morigi, F, Delledonne, M, Haferlach, T, Cavo, M, and Valent, P
Subjects: 0301 basic medicine, Adult, Male, Cancer Research, Proteasome Endopeptidase Complex, systemic mastocytosis, mast cell leukemia, SETD2, Apoptosis, Biology, Methylation, Histones, 03 medical and health sciences, chemistry.chemical_compound, Histone H3, Mastocytosis, Systemic, SETD2, Cell Line, Tumor, medicine, Humans, Midostaurin, Mast Cells, Systemic mastocytosis, Aged, Bortezomib, Lysine, leukemia, Hematology, Histone-Lysine N-Methyltransferase, Middle Aged, medicine.disease, Mast cell leukemia, Prognosis, Staurosporine, 3. Good health, Settore MED/15 - MALATTIE DEL SANGUE, 030104 developmental biology, Oncology, chemistry, Histone methyltransferase, Mutation, Cancer research, Female, Original Article, K562 Cells, Mastocytosis, medicine.drug
Abstract: The molecular basis of advanced systemic mastocytosis (SM) is not fully understood and despite novel therapies the prognosis remains dismal. Exome sequencing of an index-patient with mast cell leukemia (MCL) uncovered biallelic loss-of-function mutations in the SETD2 histone methyltransferase gene. Copy-neutral loss-of-heterozygosity at 3p21.3 (where SETD2 maps) was subsequently found in SM patients and prompted us to undertake an in-depth analysis of SETD2 copy number, mutation status, transcript expression and methylation levels, as well as functional studies in the HMC-1 cell line and in a validation cohort of 57 additional cases with SM, including MCL, aggressive SM and indolent SM. Reduced or no SETD2 protein expression-and consequently, H3K36 trimethylation-was found in all cases and inversely correlated with disease aggressiveness. Proteasome inhibition rescued SETD2 expression and H3K36 trimethylation and resulted in marked accumulation of ubiquitinated SETD2 in SETD2-deficient patients but not in patients with near-normal SETD2 expression. Bortezomib and, to a lesser extent, AZD1775 alone or in combination with midostaurin induced apoptosis and reduced clonogenic growth of HMC-1 cells and of neoplastic mast cells from advanced SM patients. Our findings may have implications for prognostication of SM patients and for the development of improved treatment approaches in advanced SM.Leukemia advance online publication, 30 June 2017; doi:10.1038/leu.2017.183.
Published: 2018

32. Covid-19 Interstitial Pneumonia: Histological and Immunohistochemical Features on Cryobiopsies

Author: Vincenzo Bronte, Venerino Poletti, Stefano Maitan, Alessandra Dubini, Marco Chilosi, Franco Stella, Athol U. Wells, Claudio Doglioni, Antonio Vizzuso, Silvia Puglisi, Giovanni Pizzolo, Vanni Agnoletti, Federica Pedica, Claudia Ravaglia, Giulio Rossi, Vittorio Sambri, Giovanni Poletti, Sara Piciucchi, and Doglioni C, Ravaglia C, Chilosi M, Rossi G, Dubini A, Pedica F, Piciucchi S, Vizzuso A, Stella F, Maitan S, Agnoletti V, Puglisi S, Poletti G, Sambri V, Pizzolo G, Bronte V, Wells AU, Poletti V.
Subjects: Pulmonary and Respiratory Medicine, Pathology, medicine.medical_specialty, Coronaviru, Lung biopsy, Lung injury, 03 medical and health sciences, 0302 clinical medicine, Medicine, Cryobiopsy, 030212 general & internal medicine, Diffuse alveolar damage, Lung, Acute respiratory distress syndrome, SARS-CoV-2, business.industry, CD68, pSTAT-3, Hyperplasia, medicine.disease, Coronavirus, Endothelial stem cell, Pneumonia, medicine.anatomical_structure, 030228 respiratory system, Indoleamine 2,3-dioxygenase-1, Covid-19, business
Abstract: Background: The pathogenetic steps leading to Covid-19 interstitial pneumonia remain to be clarified. Most postmortem studies to date reveal diffuse alveolar damage as the most relevant histologic pattern. Antemortem lung biopsy may however provide more precise data regarding the earlier stages of the disease, providing a basis for novel treatment approaches. Objectives: To ascertain the morphological and immunohistochemical features of lung samples obtained in patients with moderate Covid-19 pneumonia. Methods: Transbronchial lung cryobiopsy was carried out in 12 Covid-19 patients within 20 days of symptom onset. Results: Histopathologic changes included spots of patchy acute lung injury with alveolar type II cell hyperplasia, with no evidence of hyaline membranes. Strong nuclear expression of phosphorylated STAT3 was observed in >50% of AECII. Interalveolar capillaries showed enlarged lumen and were in part arranged in superposed rows. Pulmonary venules were characterized by luminal enlargement, thickened walls, and perivascular CD4+ T-cell infiltration. A strong nuclear expression of phosphorylated STAT3, associated with PD-L1 and IDO expression, was observed in endothelial cells of venules and interstitial capillaries. Alveolar spaces macrophages exhibited a peculiar phenotype (CD68, CD11c, CD14, CD205, CD206, CD123/IL3AR, and PD-L1). Conclusions: Morphologically distinct features were identified in early stages of Covid-19 pneumonia, with epithelial and endothelial cell abnormalities different from either classical interstitial lung diseases or diffuse alveolar damage. Alveolar type II cell hyperplasia was a prominent event in the majority of cases. Inflammatory cells expressed peculiar phenotypes. No evidence of hyaline membranes and endothelial changes characterized by IDO expression might in part explain the compliance and the characteristic pulmonary vasoplegia observed in less-advanced Covid-19 pneumonia.
Published: 2021

33. Massive intravascular hemolysis associated with Clostridium perfringens bacteremia

Author: Vittorio Sambri, Giovanni Poletti, Evita Massari, Marco Rosetti, Marta Monti, Andrea Fabbri, Poletti G., Massari E., Fabbri A., Monti M., Rosetti M., and Sambri V.
Subjects: Intravascular hemolysis, business.industry, Clostridum perfringens, hemolysis, bacteriemia, Bacteremia, Medicine, Hematology, Clostridium perfringens, business, medicine.disease_cause, medicine.disease, Microbiology
Abstract: N.A.
Published: 2021

34. Novel Insights in Anti-CD38 Therapy Based on CD38-Receptor Expression and Function: The Multiple Myeloma Model

Author: Evita Massari, Giovanni Poletti, Enrico Maffini, Massimo Geuna, Angelo Corso Faini, Francesco Lanza, Claudio Cerchione, Fabio Malavasi, Giovanni Martinelli, Beatrice Anna Zannetti, Zannetti, B. A., Faini, A. C., Massari, E., Geuna, M., Maffini, E., Poletti, G., Cerchione, C., Martinelli, G., Malavasi, F., and Lanza, F.
Subjects: 0301 basic medicine, medicine.drug_class, Receptor expression, Antibodies, Monoclonal, Humanized, Monoclonal antibody, Article, NO, CD38 antigen expression in various tissues, 03 medical and health sciences, 0302 clinical medicine, Autologous stem-cell transplantation, Antigen, immune system diseases, hemic and lymphatic diseases, Tumor Microenvironment, Humans, Medicine, anti-CD38 monoclonal antibodies, lcsh:QH301-705.5, Multiple myeloma, Isatuximab, bone marrow microenvironment, plasmacells, business.industry, Antibody-Dependent Cell Cytotoxicity, Antibodies, Monoclonal, Daratumumab, General Medicine, CD38, multiple myeloma, medicine.disease, ADP-ribosyl Cyclase 1, plasmacell, CD38 antigen expression in various tissue, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), 030220 oncology & carcinogenesis, Cancer research, Bone marrow, business
Abstract: Multiple myeloma (MM) is a hematological disease characterized by the proliferation and accumulation of malignant plasmacells (PCs) in the bone marrow (BM). Despite widespread use of high-dose chemotherapy in combination with autologous stem cell transplantation (ASCT) and the introduction of novel agents (immunomodulatory drugs, IMiDs, and proteasome inhibitors, PIs), the prognosis of MM patients is still poor. CD38 is a multifunctional cell-surface glycoprotein with receptor and ectoenzymatic activities. The very high and homogeneous expression of CD38 on myeloma PCs makes it an attractive target for novel therapeutic strategies. Several anti-CD38 monoclonal antibodies have been, or are being, developed for the treatment of MM, including daratumumab and isatuximab. Here we provide an in-depth look atCD38 biology, the role of CD38 in MM progression and its complex interactions with the BM microenvironment, the importance of anti-CD38 monoclonal antibodies, and the main mechanisms of antibody resistance. We then review a number of multiparametric flow cytometry techniques exploiting CD38 antigen expression on PCs to diagnose and monitor the response to treatment in MM patients.
Published: 2020
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35. Current state and challenges in developing respiratory syncytial virus vaccines

Author: Alessandro Rocca, Carlotta Biagi, Silvia Vandini, Giulia Poletti, Sara Scarpini, Arianna Dondi, Marcello Lanari, Biagi C., Dondi A., Scarpini S., Rocca A., Vandini S., Poletti G., and Lanari M.
Subjects: 0301 basic medicine, medicine.medical_specialty, Immunology, lcsh:Medicine, Review, Disease, 03 medical and health sciences, 0302 clinical medicine, Immune system, Intensive care, Drug Discovery, medicine, Global health, Pharmacology (medical), 030212 general & internal medicine, Vector (molecular biology), Intensive care medicine, Pharmacology, Respiratory tract infections, business.industry, Prevention, lcsh:R, RSV, 030104 developmental biology, Infectious Diseases, Immunization, Respiratory Syncytial Virus Vaccines, business, Vaccine
Abstract: Respiratory syncytial virus (RSV) is the main cause of acute respiratory tract infections in infants and it also induces significant disease in the elderly. The clinical course may be severe, especially in high-risk populations (infants and elderly), with a large number of deaths in developing countries and of intensive care hospitalizations worldwide. To date, prevention strategies against RSV infection is based on hygienic measures and passive immunization with humanized monoclonal antibodies, limited to selected high-risk children due to their high costs. The development of a safe and effective vaccine is a global health need and an important objective of research in this field. A growing number of RSV vaccine candidates in different formats (particle-based vaccines, vector-based vaccines, subunit vaccines and live-attenuated vaccines) are being developed and are now at different stages, many of them already being in the clinical stage. While waiting for commercially available safe and effective vaccines, immune prophylaxis in selected groups of high-risk populations is still mandatory. This review summarizes the state-of-the-art of the RSV vaccine research and its implications for clinical practice, focusing on the characteristics of the vaccines that reached the clinical stage of development.
Published: 2020

36. Rhinovirus Infection in Children with Acute Bronchiolitis and Its Impact on Recurrent Wheezing and Asthma Development

Author: Giulia Poletti, Carlotta Biagi, Marianna Fabi, Marcello Lanari, Alessandro Rocca, Biagi C., Rocca A., Poletti G., Fabi M., and Lanari M.
Subjects: Microbiology (medical), Pediatrics, medicine.medical_specialty, Rhinovirus infection, Review, medicine.disease_cause, Microbiology, Virus, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Virology, medicine, Clinical severity, 030212 general & internal medicine, Bronchioliti, lcsh:QH301-705.5, Children, Asthma, Wheezing, business.industry, Clinical course, medicine.disease, Rhinoviru, rhinovirus, lcsh:Biology (General), Acute Bronchiolitis, Bronchiolitis, bronchiolitis, Rhinovirus, business, Pediatric population
Abstract: Acute bronchiolitis represents the leading cause of hospitalization in infants. Together with a respiratory syncytial virus, rhinovirus (RV) is one of the most common pathogens associated with bronchiolitis, and its genetic diversity (>150 types) makes the recurrence of RV infections each year quite typical. The frequency of RV infection and co-infection with other viruses and its impact on the clinical course of bronchiolitis have been studied by several authors with controversial results. Some studies demonstrate that multiple virus infections result in more severe clinical presentation and a higher risk of complications, whereas other studies suggest no influence on clinical course. Moreover, RV bronchiolitis has been reported to potentially contribute to the development of long-term sequelae, such as recurrent wheezing and asthma, in the pediatric population. In the present review, we summarize the most recent findings of the role of RV infection in children with acute bronchiolitis, its impact on subsequent asthma development, and the implication in clinical practice.
Published: 2020

37. Serum Total Tryptase Level Confirms Itself as a More Reliable Marker of Mast Cells Burden in Mast Cell Leukaemia (Aleukaemic Variant)

Author: O. Quercia, Giuseppe Francesco Stefanini, Simona Soverini, G. Musardo, Giovanni Martinelli, A. Lanzi, Giovanni Poletti, Paolo Savini, C De Benedittis, Michela Rondoni, Savini, P, Rondoni, M, Poletti, G, Lanzi, A, Quercia, O, Soverini, S, De Benedittis, C, Musardo, G, Martinelli, G, and Stefanini, G F
Subjects: biology, lcsh:RC633-647.5, Bone Marrow Smear, Anemia, business.industry, medicine.medical_treatment, Tryptase, Imatinib, Case Report, lcsh:Diseases of the blood and blood-forming organs, General Medicine, Mast cell leukemia, medicine.disease, Immunology, medicine, biology.protein, Antihistamine, Systemic mastocytosis, business, Mast cell leukemia (MCL), systemic mastocytosis (SM), serum total tryptase level, Infiltration (medical), medicine.drug
Abstract: Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) with a short median survival of 6 months. We describe a case of a 65-year-old woman with aleukaemic variant of MCL with a very high serum total tryptase level of 2255 μg/L at diagnosis, which occurred following an episode of hypotensive shock. She fulfilled the diagnostic criteria of SM, with a bone marrow smear infiltration of 50–60% of atypical mast cells (MCs). She tested negative for the KIT D816V mutation, without any sign of organ damage (no B- or C-findings) and only few mediator-related symptoms. She was treated with antihistamine alone and then with imatinib for the appearance of anemia. She maintained stable tryptase level and a very indolent clinical course for twenty-two months; then, she suddenly progressed to acute MCL with a serum tryptase level up to 12960 μg/L. The patient died due to haemorrhagic diathesis twenty-four months after diagnosis. This clinical case maybe represents an example of the chronic form of mast cell leukemia, described as unpredictable disease, in which the serum total tryptase level has confirmed itself as a reliable marker of mast cells burden regardless of the presence of other signs or symptoms.
Published: 2015

38. Anti-mycotoxin feed additives: Effects on metabolism, mycotoxin excretion, performance, and total-tract digestibility of dairy cows fed artificially multi-mycotoxin-contaminated diets.

Author: Vieira DJC, Fonseca LM, Poletti G, Martins NP, Grigoletto NTS, Chesini RG, Tonin FG, Cortinhas CS, Acedo TS, Artavia I, Faas J, Takiya CS, Corassin CH, and Rennó FP
Subjects: Animals, Cattle, Female, Lactation, Digestion drug effects, Animal Feed, Mycotoxins, Diet veterinary, Milk chemistry, Milk metabolism
Abstract: The aim of this study was to evaluate the effects of different anti-mycotoxin feed additives on the concentration of mycotoxins in milk, urine, and blood plasma of dairy cows fed diets artificially contaminated with mycotoxins. Secondarily, performance, total-tract apparent digestibility of nutrients, and blood parameters were evaluated. Twelve multiparous cows (165 ± 45 DIM, 557 ± 49 kg BW, and 32.1 ± 4.57 kg/d milk yield at the start of the experiment) were blocked according to parity, milk yield, and DIM and used in a 4 × 4 Latin square design experiment with 21-d periods, where the last 7 d were used for sampling and data analysis. Treatments were (1) mycotoxin group (MTX), basal diet (BD) without anti-mycotoxin feed additives; (2) hydrated sodium calcium aluminosilicate (HSCA), HSCA added to the BD at 25 g/cow per day; (3) mycotoxin deactivator (MD; Mycofix Plus, dsm-firmenich) added to the BD at 15 g/cow per day (MD15); and (4) MD added to the BD at 30 g/cow per day (MD30). Cows from all treatments were challenged with a blend of mycotoxins containing 404 μg of aflatoxin B 1 , 5,025 μg of deoxynivalenol (DON), 8,046 μg of fumonisins (FUM), 195 μg of T2 toxin (T2), and 2,034 μg of zearalenone (ZEN) added daily to the BD during the last 7 d of each period. Neither performance (milk yield and composition) nor nutrient digestibility was affected by treatments. All additives reduced aflatoxin M 1 (AFM1) concentration in milk, whereas MD15 and MD30 group had lower excretion of AFM1 in milk than HSCA. Deoxynivalenol, FUM, T2, or ZEN were not detected in milk of MD15 and MD30. Concentrations in milk of DON, FUM, T2, and ZEN were similar between MTX and HSCA. Except for AFM1, none of the analyzed mycotoxins were detected in urine of MD30 group. Comparing HSCA to MD treatments, the concentration of AFM1 was greater for HSCA, whereas MD30 was more efficient at reducing AFM1 in urine than MD15. Aflatoxin M1, DON, FUM, and ZEN were not detected in the plasma of cows fed MD30, and DON was also not detected in MD15 group. Plasma concentration of FUM was lower for MD15, similar plasma FUM concentration was reported for HSCA and MTX. Plasma concentration of ZEN was lower for MD15 than MTX and HSCA. Serum concentrations of haptoglobin and hepatic enzymes were not affected by treatments. Blood concentration of sodium was lower in HSCA compared with MD15 and MD30 groups. In conclusion, the mycotoxin deactivator proved to be effective in reducing the secretion of mycotoxins in milk, urine, and blood plasma, regardless of the dosage. This reduction was achieved without adverse effects on milk production or total-tract digestibility in cows fed multi-mycotoxin-contaminated diets over a short-term period. Greater reductions in mycotoxin secretion were observed with full dose of MD., (The Authors. Published by Elsevier Inc. on behalf of the American Dairy Science Association®. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).)
Published: 2024
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39. Dietary supplementation with live or autolyzed yeast: Effects on performance, nutrient digestibility, and ruminal fermentation in dairy cows.

Author: Takiya CS, Chesini RG, de Freitas AC, Grigoletto NTS, Vieira DJC, Poletti G, Martins NP, Sbaralho OP, Roth N, Acedo T, Cortinhas C, and Rennó FP
Subjects: Animals, Cattle, Female, Yeasts, Nutrients metabolism, Digestion, Rumen metabolism, Fermentation, Dietary Supplements, Lactation, Diet veterinary, Milk chemistry, Milk metabolism, Animal Feed
Abstract: This study was conducted to evaluate the effects of live or autolyzed yeast supplementation on dairy cow performance and ruminal fermentation. Two experiments were conducted to evaluate performance, feed sorting, total-tract apparent digestibility of nutrients, purine derivatives excretion, N utilization, ruminal fermentation, and the abundance of specific bacterial groups in the rumen. In experiment 1, 39 Holstein cows (171 ± 40 DIM and 32.6 ± 5.4 kg/d milk yield) were blocked according to parity, DIM, and milk yield and randomly assigned to the following treatments: control (CON); autolyzed yeast fed at 0.625 g/kg DM (AY; Levabon, DSM-Firmenich); or live yeast fed at 0.125 g/kg DM (LY; Vistacell, AB Vista). Cows were submitted to a 2-wk adaptation period followed by a 9-wk trial. In experiment 2, 8 ruminal cannulated Holstein cows (28.4 ± 4.0 kg/d milk yield and 216 ± 30 DIM), of which 4 were multiparous and 4 were primiparous, were blocked according to parity and enrolled into a 4 × 4 Latin square experiment with 21-d periods (the last 7 d for sampling). Cows within blocks were randomly assigned to treatment sequences: control (CON), LY (using the same product and dietary concentration as described in experiment 1), AY, or autolyzed yeast fed at 0.834 g/kg DM (AY2). In experiments 1 and 2, nutrient intake and total-tract apparent digestibility were not affected by treatments. Sorting for long feed particles (>19 mm) tended to be greater in cows fed yeast supplements than CON in experiment 1. Efficiency of N conversion into milk N was increased when feeding yeast supplements in experiment 1, and 3.5% FCM yield tended to be greater in cows fed yeast supplements than CON. Feed efficiency was increased when yeast supplements were fed to cows in relation to CON in experiment 1. In experiment 2, yield of FCM and fat were greater in cows fed yeast supplements compared with CON. Uric acid concentration and output in urine were increased when feeding yeast supplements when compared with CON. Neither ruminal pH nor total VFA were influenced by treatments. The current study did not reveal treatment differences in ruminal abundance of Anaerovibrio lipolytica, the genus Butyrivibrio, Fibrobacter succinogenes, Butyrivibrio proteoclasticus, or Streptococcus bovis. Yeast supplementation can increase feed efficiency without affecting nutrient intake and digestibility, ruminal VFA concentration, or ruminal abundance of specific bacterial groups. Supplementing live or autolyzed yeast, regardless of the dose, resulted in similar performance., (The Authors. Published by Elsevier Inc. on behalf of the American Dairy Science Association®. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).)
Published: 2024
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40. Evolution of acquired haemoglobin H disease monitored by capillary electrophoresis: a case of a myelofibrotic patient with a novel ATRX mutation.

Author: Rosetti M, Poletti G, Catapano R, Trombetti S, Grosso M, Maoggi S, Ivaldi G, Massari E, Monti M, Olivieri M, Polli V, Clementoni A, and Fasano T
Subjects: Humans, Male, Nuclear Proteins genetics, Middle Aged, X-linked Nuclear Protein genetics, Mutation, Electrophoresis, Capillary, alpha-Thalassemia genetics, alpha-Thalassemia blood, alpha-Thalassemia diagnosis
Published: 2024
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41. Computational Analysis of the Effects of Fiber Deformation on the Microstructure and Permeability of Blood Oxygenator Bundles.

Author: Poletti G, Ninarello D, and Pennati G
Subjects: Blood Pressure, Permeability, Oxygenators, Membrane, Hydrodynamics
Abstract: Mechanical loads on the polymeric fibers of oxygenating bundles are commonly present due to bundle press-fitting during device assembly and blood pressure load. However, computational fluid dynamics (CFD) simulations for fiber bundle optimization neglect possible changes in microstructure due to such deformations. The aim of this study is to investigate the impact of fiber deformability on bundle microstructure and fluid dynamics mainly in terms of permeability. Fibers from commercial mats typically used for blood oxygenators were mechanically tested and based on these experimental data, a material model was developed to simulate the structural deformations the fibers undergo under press-fitting and blood pressure loads. Then, CFD simulations were performed on deformed bundle repetitive units to investigate permeability under varying loading conditions. The effects of different bundle geometric parameters on the variation of bundle permeability due to press-fitting were evaluated. Bundle press-fitting results in significant changes in microstructure that are reflected in a bundle permeability more than halved for a 15% press-fitting. This impact on permeability is present in all the simulated fiber bundles and becomes more pronounced as the pitch between fibers and thus bundle porosity decreases. Instead, the analyses on pressurized bundle show only small deformations caused by pressure load, with permeability changes below 1%. While blood pressure effects could be neglected, bundle press-fitting turns out to have a significant impact on bundle microstructure and permeability. Neglecting such microstructure variations during CFD simulations could also lead to incorrect assessment of the local fluid dynamics within the bundle., (© 2024. The Author(s).)
Published: 2024
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42. Same Syndrome, Different Causes and Treatment: Path to Diagnosis and Management of Two Interesting Cases of Acquired von Willebrand Syndrome.

Author: Monti M, Massari E, Rosetti M, Clementoni A, Poletti G, Olivieri M, Conti D, and Fasano T
Subjects: Humans, von Willebrand Factor, Syndrome, von Willebrand Diseases diagnosis, von Willebrand Diseases therapy
Abstract: Competing Interests: None declared.
Published: 2024
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43. Effects of the presence of fibrin strands on complete blood count parameters.

Author: Rosetti M, Olivieri M, Polli V, Massari E, Monti M, Clementoni A, Libri V, Poletti G, and Fasano T
Subjects: Humans, Blood Cell Count, Fibrin
Published: 2023
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44. Investigating Balloon-Vessel Contact Pressure Patterns in Angioplasty: In Silico Insights for Drug-Coated Balloons.

Author: Stratakos E, Antonini L, Poletti G, Berti F, Tzafriri AR, Petrini L, and Pennati G
Subjects: Animals, Femoral Artery, Coated Materials, Biocompatible, Excipients, Paclitaxel, Angioplasty, Balloon methods
Abstract: Drug-Coated Balloons have shown promising results as a minimally invasive approach to treat stenotic arteries, but recent animal studies have revealed limited, non-uniform coating transfer onto the arterial lumen. In vitro data suggested that local coating transfer tracks the local Contact Pressure (CP) between the balloon and the endothelium. Therefore, this work aimed to investigate in silico how different interventional and device parameters may affect the spatial distribution of CP during the inflation of an angioplasty balloon within idealized vessels that resemble healthy femoral arteries in size and compliance. An angioplasty balloon computational model was developed, considering longitudinal non-uniform wall thickness, due to its forming process, and the folding procedure of the balloon. To identify the conditions leading to non-uniform CP, sensitivity finite element analyses were performed comparing different values for balloon working length, longitudinally varying wall thickness, friction coefficient on the balloon-vessel interface, vessel wall stiffness and thickness, and balloon-to-vessel diameter ratio. Findings indicate a significant irregularity of contact between the balloon and the vessel, mainly affected by the balloon's unfolding and longitudinal thickness variation. Mirroring published data on coating transfer distribution in animal studies, the interfacial CP distribution was maximal at the middle of the balloon treatment site, while exhibiting a circumferential pattern of linear peaks as a consequence of the particular balloon-vessel interaction during unfolding. A high ratio of balloon-to-vessel diameter, higher vessel stiffness, and thickness was found to increase significantly the amplitude and spatial distribution of the CP, while a higher friction coefficient at the balloon-to-vessel interface further exacerbated the non-uniformity of CP. Evaluation of balloon design effects revealed that the thicker tapered part caused CP reduction in the areas that interacted with the extremities of the balloon, whereas total length only weakly impacted the CP. Taken together, this study offers a deeper understanding of the factors influencing the irregularity of balloon-tissue contact, a key step toward uniformity in drug-coating transfer and potential clinical effectiveness., (© 2023. The Author(s).)
Published: 2023
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45. Neanderthal introgression in SCN9A impacts mechanical pain sensitivity.

Author: Faux P, Ding L, Ramirez-Aristeguieta LM, Chacón-Duque JC, Comini M, Mendoza-Revilla J, Fuentes-Guajardo M, Jaramillo C, Arias W, Hurtado M, Villegas V, Granja V, Barquera R, Everardo-Martínez P, Quinto-Sánchez M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Poletti G, Gallo C, Rothhammer F, Rojas W, Schmid AB, Adhikari K, Bennett DL, and Ruiz-Linares A
Subjects: Humans, Animals, Pain genetics, NAV1.7 Voltage-Gated Sodium Channel genetics, Nociception, Pain Threshold, Neanderthals genetics
Abstract: The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Three functional variants in the SCN9A gene (encoding M932L, V991L, and D1908G in Nav1.7), have recently been identified as stemming from Neanderthal introgression and to associate with pain symptomatology in UK BioBank data. In 1000 genomes data, these variants are absent in Europeans but common in Latin Americans. Analysing high-density genotype data from 7594 Latin Americans, we characterized Neanderthal introgression in SCN9A. We find that tracts of introgression occur on a Native American genomic background, have an average length of ~123 kb and overlap the M932L, V991L, and D1908G coding positions. Furthermore, we measured experimentally six pain thresholds in 1623 healthy Colombians. We found that Neanderthal ancestry in SCN9A is significantly associated with a lower mechanical pain threshold after sensitization with mustard oil and evidence of additivity of effects across Nav1.7 variants. Our findings support the reported association of Neanderthal Nav1.7 variants with clinical pain, define a specific sensory modality affected by archaic introgression in SCN9A and are consistent with independent effects of the Neanderthal variants on Nav1.7 function., (© 2023. Springer Nature Limited.)
Published: 2023
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46. Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.

Author: Li Y, Xiong Z, Zhang M, Hysi PG, Qian Y, Adhikari K, Weng J, Wu S, Du S, Gonzalez-Jose R, Schuler-Faccini L, Bortolini MC, Acuna-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Wang J, Tan J, Yuan Z, Jin L, Uitterlinden AG, Ghanbari M, Ikram MA, Nijsten T, Zhu X, Lei Z, Jia P, Ruiz-Linares A, Spector TD, Wang S, Kayser M, and Liu F
Subjects: Humans, Male, Animals, Mice, Phenotype, Asia, Polymorphism, Single Nucleotide genetics, Genome-Wide Association Study methods, Genetic Loci
Abstract: Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ear morphology traits using deep learning analysis of digital face images in 14,921 individuals from five different cohorts in Europe, Asia, and Latin America. Through GWAS meta-analysis and C-GWASs, a recently introduced method to effectively combine GWASs of many traits, we identified 16 genetic loci involved in various ear phenotypes, eight of which have not been previously associated with human ear features. Our findings suggest that ear morphology shares genetic determinants with other surface ectoderm-derived traits such as facial variation, mono eyebrow, and male pattern baldness. Our results enhance the genetic understanding of human ear morphology and shed light on the shared genetic contributors of different surface ectoderm-derived phenotypes. Additionally, gene editing experiments in mice have demonstrated that knocking out the newly ear-associated gene (Intu) and a previously ear-associated gene (Tbx15) causes deviating mouse ear morphology., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Li et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
Published: 2023
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47. Association between Severe Acute Respiratory Syndrome Coronavirus 2 Infection (Coronavirus Disease 2019) and Lupus Anticoagulant-Hypoprothrombinemia Syndrome: A Case Report and Literature Assessment.

Author: Monti M, Martini T, Pengo V, Poletti G, Pedrazzi P, Biasoli C, Giovacchini M, and Fasano T
Subjects: Humans, Lupus Coagulation Inhibitor, Hypoprothrombinemias complications, COVID-19 complications, Antiphospholipid Syndrome complications
Abstract: Competing Interests: None declared.
Published: 2023
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48. GWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations.

Author: Peng F, Xiong Z, Zhu G, Hysi PG, Eller RJ, Wu S, Adhikari K, Chen Y, Li Y, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Uitterlinden AG, Ikram MA, Nijsten T, Ruiz-Linares A, Wang S, Walsh S, Spector TD, Martin NG, Kayser M, and Liu F
Subjects: Humans, Genome-Wide Association Study, Racial Groups, Mutation, DNA, European People genetics, Eyebrows anatomy & histology
Published: 2023
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49. Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.

Author: Li Q, Chen J, Faux P, Delgado ME, Bonfante B, Fuentes-Guajardo M, Mendoza-Revilla J, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Wu S, Du S, Giardina A, Paria SS, Khokan MR, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Rojas W, Rothhammer F, Navarro N, Wang S, Adhikari K, and Ruiz-Linares A
Subjects: Humans, Animals, Mice, Genome-Wide Association Study, Nose, Cell Differentiation, Neanderthals genetics
Abstract: We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value <5 × 10 -8 ) at 42 genome regions, nine of which have been previously reported. In follow-up analyses, 26 of the 33 novel regions replicate in East Asians, Europeans, or Africans, and one mouse homologous region influences craniofacial morphology in mice. The novel region in 1q32.3 shows introgression from Neanderthals and we find that the introgressed tract increases nasal height (consistent with the differentiation between Neanderthals and modern humans). Novel regions include candidate genes and genome regulatory elements previously implicated in craniofacial development, and show preferential transcription in cranial neural crest cells. The automated approach used here should simplify the collection of large study samples from across the world, facilitating a cosmopolitan characterization of the genetics of facial features., (© 2023. The Author(s).)
Published: 2023
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50. Dental size variation in admixed Latin Americans: Effects of age, sex and genomic ancestry.

Author: Yang G, Chen Y, Li Q, Benítez D, Ramírez LM, Fuentes-Guajardo M, Hanihara T, Scott GR, Acuña Alonzo V, Gonzalez Jose R, Bortolini MC, Poletti G, Gallo C, Rothhammer F, Rojas W, Zanolli C, Adhikari K, Ruiz-Linares A, and Delgado M
Subjects: Humans, Genomics, Hispanic or Latino, Racial Groups genetics, Tooth anatomy & histology
Abstract: Dental size variation in modern humans has been assessed from regional to worldwide scales, especially under microevolutionary and forensic contexts. Despite this, populations of mixed continental ancestry such as contemporary Latin Americans remain unexplored. In the present study we investigated a large Latin American sample from Colombia (N = 804) and obtained buccolingual and mesiodistal diameters and three indices for maxillary and mandibular teeth (except third molars). We evaluated the correlation between 28 dental measurements (and three indices) with age, sex and genomic ancestry (estimated using genome-wide SNP data). In addition, we explored correlation patterns between dental measurements and the biological affinities, based on these measurements, between two Latin American samples (Colombians and Mexicans) and three putative parental populations: Central and South Native Americans, western Europeans and western Africans through PCA and DFA. Our results indicate that Latin Americans have high dental size diversity, overlapping the variation exhibited by the parental populations. Several dental dimensions and indices have significant correlations with sex and age. Western Europeans presented closer biological affinities with Colombians, and the European genomic ancestry exhibited the highest correlations with tooth size. Correlations between tooth measurements reveal distinct dental modules, as well as a higher integration of postcanine dentition. The effects on dental size of age, sex and genomic ancestry is of relevance for forensic, biohistorical and microevolutionary studies in Latin Americans., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Yang et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
Published: 2023
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