36 results on '"Basmanav, F. Buket"'
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2. Erster ostasiatischer Fall des Syndroms der unkämmbaren Haare.
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Li, Ye, Xiong, Xing, Cesarato, Nicole, Wehner, Maria, Basmanav, F. Buket, and Betz, Regina C.
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- 2024
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3. First East Asian case of uncombable hair syndrome.
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Li, Ye, Xiong, Xing, Cesarato, Nicole, Wehner, Maria, Basmanav, F. Buket, and Betz, Regina C.
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- 2024
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4. Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia
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Forstner, Andreas J, Basmanav, F Buket, Mattheisen, Manuel, Investigators, Böhmer, Anne C, Hollegaard, Mads V, Janson, Esther, Strengman, Eric, Priebe, Lutz, Degenhardt, Franziska, Hoffmann, Per, Herms, Stefan, Maier, Wolfgang, Mössner, Rainald, Rujescu, Dan, Ophoff, Roel A, Moebus, Susanne, Mortensen, Preben B, Børglum, Anders D, Hougaard, David M, Frank, Josef, Witt, Stephanie H, Rietschel, Marcella, Zimmer, Andreas, Nöthen, Markus M, Miró, Xavier, and Cichon, Sven
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Serious Mental Illness ,Schizophrenia ,Human Genome ,Neurosciences ,Brain Disorders ,Genetics ,Mental Health ,Biotechnology ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Acetyltransferases ,Animals ,Brain ,Genetic Variation ,Genome-Wide Association Study ,Genotyping Techniques ,Heterocyclic Compounds ,Humans ,In Situ Hybridization ,Mice ,Inbred C57BL ,MicroRNAs ,Microtubule Proteins ,Receptor ,trkC ,White People ,Clinical Sciences ,Cognitive Sciences ,Psychiatry - Abstract
BackgroundSchizophrenia is a complex neuropsychiatric disorder of unclear etiology. The strongest known genetic risk factor is the 22q11.2 microdeletion. Research has yet to confirm which genes within the deletion region are implicated in schizophrenia. The minimal 1.5 megabase deletion contains MIR185, which encodes microRNA 185.MethodsWe determined miR-185 expression in embryonic and adult mouse brains. Common and rare variants at this locus were then investigated using a human genetics approach. First, we performed gene-based analyses for MIR185 common variants and target genes using Psychiatric Genomics Consortium genome-wide association data. Second, MIR185 was resequenced in German patients (n = 1000) and controls (n = 500). We followed up promising variants by genotyping an additional European sample (patients, n = 3598; controls, n = 4082).ResultsIn situ hybridization in mice revealed miR-185 expression in brain regions implicated in schizophrenia. Gene-based tests revealed association between common variants in 3 MIR185 target genes (ATAT1, SH3PXD2A, NTRK3) and schizophrenia. Further analyses in mice revealed overlapping expression patterns for these target genes and miR-185. Resequencing identified 2 rare patient-specific novel variants flanking MIR185. However, follow-up genotyping provided no further evidence of their involvement in schizophrenia.LimitationsPower to detect rare variant associations was limited.ConclusionHuman genetic analyses generated no evidence of the involvement of MIR185 in schizophrenia. However, the expression patterns of miR-185 and its target genes in mice, and the genetic association results for the 3 target genes, suggest that further research into the involvement of miR-185 and its downstream pathways in schizophrenia is warranted.
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- 2014
5. Intercellular transfer of plasmid DNA between in vitro cultured HEK293 cells following transient transfection
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Gerdes, Christoph and Basmanav, F. Buket
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- 2024
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6. Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
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Cesarato, Nicole, primary, Schwieger-Briel, Agnes, additional, Gossmann, Yasmina, additional, Henne, Sabrina K, additional, Hillmann, Kathrin, additional, Frommherz, Leonie H, additional, Wehner, Maria, additional, Xiong, Xing, additional, Thiele, Holger, additional, Oji, Vinzenz, additional, Milani, Donatella, additional, Tantcheva-Poor, Iliana, additional, Giehl, Kathrin, additional, Fölster-Holst, Regina, additional, Teichler, Anne, additional, Braeckmans, Delphine, additional, Hoeger, Peter H, additional, Jones, Gabriela, additional, Frank, Jorge, additional, Weibel, Lisa, additional, Blume-Peytavi, Ulrike, additional, Hamm, Henning, additional, Nöthen, Markus M, additional, Geyer, Matthias, additional, Heilmann-Heimbach, Stefanie, additional, Basmanav, F Buket, additional, and Betz, Regina C, additional
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- 2023
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7. A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family
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Xiong, Xing, primary, Uddin, Syed Ashraf, additional, Munir, Sobia, additional, Cesarato, Nicole, additional, Thiele, Holger, additional, Hassan, Noor, additional, Kumar, Surjeet, additional, Rehman, Fazal Ur, additional, Naeem, Muhammad, additional, Wali, Abdul, additional, Basit, Sulman, additional, Basmanav, F Buket, additional, Ayub, Muhammad, additional, and Betz, Regina C, additional
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- 2023
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8. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
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Basmanav, F. Buket, primary, Cesarato, Nicole, additional, Kumar, Sheetal, additional, Borisov, Oleg, additional, Kokordelis, Pavlos, additional, Ralser, Damian J., additional, Wehner, Maria, additional, Axt, Daisy, additional, Xiong, Xing, additional, Thiele, Holger, additional, Dolgin, Vadim, additional, Gossmann, Yasmina, additional, Fricker, Nadine, additional, Dewenter, Malin Katharina, additional, Weller, Karsten, additional, Suri, Mohnish, additional, Reichenbach, Herbert, additional, Oji, Vinzenz, additional, Addor, Marie-Claude, additional, Ramirez, Karla, additional, Stewart, Helen, additional, Garcia Bartels, Natalie, additional, Weibel, Lisa, additional, Wagner, Nicola, additional, George, Susannah, additional, Kilic, Arzu, additional, Tantcheva-Poor, Iliana, additional, Stewart, Alison, additional, Dikow, Nicola, additional, Blaumeiser, Bettina, additional, Medvecz, Márta, additional, Blume-Peytavi, Ulrike, additional, Farrant, Paul, additional, Grimalt, Ramon, additional, Bertok, Sara, additional, Bradley, Lisa, additional, Eskin-Schwartz, Marina, additional, Birk, Ohad Samuel, additional, Bygum, Anette, additional, Simon, Michel, additional, Krawitz, Peter, additional, Fischer, Christine, additional, Hamm, Henning, additional, Fritz, Günter, additional, and Betz, Regina C., additional
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- 2022
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9. Mutations in [gamma]-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inverse
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Ralser, Damian J., Basmanav, F. Buket U., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michelle, Pulimood, Susanne A., Altmuller, Janine, Nurnberg, Peter, Lacombe, Didier, Hillen, Uwe, Wenzel, Jorg, Frank, Jorge, Odermatt, Benjamin, and Betz, Regina C.
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Pigmentation disorders -- Genetic aspects -- Care and treatment ,Acne -- Genetic aspects -- Care and treatment ,Gene mutation -- Health aspects ,Health care industry - Abstract
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been excluded. Further examination revealed that the histopathologic feature of follicular hyperkeratosis distinguished these 6 patients from previously studied individuals with DDD. Knockdown of psenen in zebrafish larvae resulted in a phenotype with scattered pigmentation that mimicked human DDD. In the developing zebrafish larvae, in vivo monitoring of pigment cells suggested that disturbances in melanocyte migration and differentiation underlie the DDD pathogenesis associated with PSENEN. Six of the PSENEN mutation carriers presented with comorbid acne inversa (AI), an inflammatory hair follicle disorder, and had a history of nicotine abuse and/or obesity, which are known trigger factors for AI. Previously, PSENEN mutations were identified in familial AI, and comanifestation of DDD and AI has been reported for decades. The present work suggests that PSENEN mutations can indeed cause a comanifestation of DDD and AI that is likely triggered by predisposing factors for AI. Thus, the present report describes a DDD subphenotype in PSENEN mutation carriers that is associated with increased susceptibility to AI., Introduction Skin pigmentation is a complex process in which the location, degree, and type of pigmentation provides a visual manifestation of genetic heterogeneity in pathways regulating the function of melanocytes. [...]
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- 2017
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10. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
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Basmanav, F Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J, Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Garcia Bartels, Natalie, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poór, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, et al, and University of Zurich
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2708 Dermatology ,610 Medicine & health ,10220 Clinic for Surgery - Published
- 2022
11. Translational impact of omics studies in alopecia areata: recent advances and future perspectives
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Basmanav, F. Buket, primary and Betz, Regina C., additional
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- 2022
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12. Protein nanobarcodes enable single-step multiplexed fluorescence imaging
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de Jong-Bolm, Daniëlle, primary, Sadeghi, Mohsen, additional, Bao, Guobin, additional, Klaehn, Gabriele, additional, Hoff, Merle, additional, Mittelmeier, Lucas, additional, Basmanav, F. Buket, additional, Opazo, Felipe, additional, Noé, Frank, additional, and Rizzoli, Silvio O., additional
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- 2022
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13. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
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Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette, Simon, Michel, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter, Betz, Regina C., Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette, Simon, Michel, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter, and Betz, Regina C.
- Abstract
Importance Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objective To elucidate the genetic spectrum of UHS. Design, Setting, and Participants This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021. Main Outcomes and Measures Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes. Results The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene. Conclusions and Relevance This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on m
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- 2022
14. Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis
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Ralser, Damian J., Takeuchi, Hideyuki, Fritz, Günter, Basmanav, F. Buket, Effern, Maike, Sivalingam, Sugirthan, El-Shabrawi-Caelen, Laila, Degirmentepe, Ece N., Kocatürk, Emek, Singh, Manuraj, Booken, Nina, Spierings, Natalia M.K., Schnabel, Viktor, Heineke, Andre, Knuever, Jana, Wolf, Sabrina, Wehner, Maria, Tronnier, Michael, Leverkus, Martin, Tantcheva-Poór, Iliana, Wenzel, Jörg, Oji, Vinzenz, Has, Cristina, Hölzel, Michael, Frank, Jorge, Haltiwanger, Robert S., and Betz, Regina C.
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- 2019
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15. Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2
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Schlaweck, Annika E., primary, Tazi-Ahnini, Rachid, additional, Ü. Basmanav, F. Buket, additional, Mohungoo, Javed, additional, Pasternack-Ziach, Sandra M., additional, Mattheisen, Manuel, additional, Oprisoreanu, Ana-Maria, additional, Humbatova, Aytaj, additional, Wolf, Sabrina, additional, Messenger, Andrew, additional, and Betz, Regina C., additional
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- 2019
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16. Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2
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Fischer, Johannes, Degenhardt, Franziska, Hofmann, Andrea, Redler, Silke, Basmanav, F. Buket, Heilmann-Heimbach, Stefanie, Hanneken, Sandra, Giehl, Kathrin A., Wolff, Hans, Moebus, Susanne, Kruse, Roland, Lutz, Gerhard, Blaumeiser, Bettina, Boehm, Markus, Bartels, Natalie Garcia, Blume-Peytavi, Ulrike, Petukhova, Lynn, Christiano, Angela M., Nöthen, Markus, Noethen, Markus M., and Betz, Regina C.
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0301 basic medicine ,Adult ,Male ,medicine.medical_specialty ,Alopecia Areata ,DNA Copy Number Variations ,Genotype ,Medizin ,Genome-wide association study ,Dermatology ,Biology ,Biochemistry ,Polymorphism, Single Nucleotide ,Receptors, G-Protein-Coupled ,Pathogenesis ,Cohort Studies ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Belgium ,Molecular genetics ,Germany ,medicine ,Humans ,Copy-number variation ,Receptors, Pituitary Hormone ,Molecular Biology ,Gene ,Netherlands ,Genetics ,Melanins ,Hypothalamic Hormones ,Pigmentation ,Chromosome Mapping ,Alopecia areata ,medicine.disease ,Europe ,Pituitary Hormones ,030104 developmental biology ,Etiology ,Female ,Human medicine ,Genome-Wide Association Study ,Signal Transduction - Abstract
Alopecia areata (AA) is a common hair loss disorder of autoimmune aetiology, which often results in pronounced psychological distress. Understanding of the pathophysiology of AA is increasing, due in part to recent genetic findings implicating common variants at several genetic loci. To date, no study has investigated the contribution of copy number variants (CNVs) to AA, a prominent class of genomic variants involved in other autoimmune disorders. Here, we report a genomewide- and a candidate gene-focused CNV analysis performed in a cohort of 585 patients with AA and 1340 controls of Central European origin. A nominally significant association with AA was found for CNVs in the following five chromosomal regions: 4q35.2, 6q16.3, 9p23, 16p12.1 and 20p12.1. The most promising finding was a 342.5-kb associated region in 6q16.3 (duplications in 4/585 patients; 0/1340 controls). The duplications spanned the genes MCHR2 and MCHR2-AS1, implicated in melanin-concentrating hormone (MCH) signalling. These genes have not been implicated in previous studies of AA pathogenesis. However, previous research has shown that MCHR2 affects the scale colour of barfin flounder fish via the induction of melanin aggregation. AA preferentially affects pigmented hairs, and the hair of patients with AA frequently shows a change in colour when it regrows following an acute episode of AA. This might indicate a relationship between AA, pigmentation and MCH signalling. In conclusion, the present results provide suggestive evidence for the involvement of duplications in MCHR2 in AA pathogenesis.
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- 2017
17. Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome
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Ü Basmanav, F Buket, Cau, Laura, Tafazzoli, Aylar, et al, Büchner, Aline, Weibel, Lisa, and University of Zurich
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2716 Genetics (clinical) ,1311 Genetics ,10177 Dermatology Clinic ,610 Medicine & health - Published
- 2016
18. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
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Ralser, Damian J., primary, Basmanav, F. Buket Ü., additional, Tafazzoli, Aylar, additional, Wititsuwannakul, Jade, additional, Delker, Sarah, additional, Danda, Sumita, additional, Thiele, Holger, additional, Wolf, Sabrina, additional, Busch, Michélle, additional, Pulimood, Susanne A., additional, Altmüller, Janine, additional, Nürnberg, Peter, additional, Lacombe, Didier, additional, Hillen, Uwe, additional, Wenzel, Jörg, additional, Frank, Jorge, additional, Odermatt, Benjamin, additional, and Betz, Regina C., additional
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- 2017
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19. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
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Ü. Basmanav, F. Buket, primary, Cau, Laura, additional, Tafazzoli, Aylar, additional, Méchin, Marie-Claire, additional, Wolf, Sabrina, additional, Romano, Maria Teresa, additional, Valentin, Frederic, additional, Wiegmann, Henning, additional, Huchenq, Anne, additional, Kandil, Rima, additional, Garcia Bartels, Natalie, additional, Kilic, Arzu, additional, George, Susannah, additional, Ralser, Damian J., additional, Bergner, Stefan, additional, Ferguson, David J.P., additional, Oprisoreanu, Ana-Maria, additional, Wehner, Maria, additional, Thiele, Holger, additional, Altmüller, Janine, additional, Nürnberg, Peter, additional, Swan, Daniel, additional, Houniet, Darren, additional, Büchner, Aline, additional, Weibel, Lisa, additional, Wagner, Nicola, additional, Grimalt, Ramon, additional, Bygum, Anette, additional, Serre, Guy, additional, Blume-Peytavi, Ulrike, additional, Sprecher, Eli, additional, Schoch, Susanne, additional, Oji, Vinzenz, additional, Hamm, Henning, additional, Farrant, Paul, additional, Simon, Michel, additional, and Betz, Regina C., additional
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- 2016
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20. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
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Basmanav, F. Buket U., Cau, Laura, Tafazzoli, Aylar, Mechin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Bartels, Natalie Garcia, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J. P., Oprisoreanu, Ana-Maria, Wehner, Maria, Thiele, Holger, Altmueller, Janine, Nuerenberg, Peter, Swan, Daniel, Houniet, Darren, Buechner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz, Hamm, Henning, Farrant, Paul, Simon, Michel, Betz, Regina C., Basmanav, F. Buket U., Cau, Laura, Tafazzoli, Aylar, Mechin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Bartels, Natalie Garcia, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J. P., Oprisoreanu, Ana-Maria, Wehner, Maria, Thiele, Holger, Altmueller, Janine, Nuerenberg, Peter, Swan, Daniel, Houniet, Darren, Buechner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz, Hamm, Henning, Farrant, Paul, Simon, Michel, and Betz, Regina C.
- Abstract
Uncombable hair syndrome (UHS), also known as spun glass hair syndrome,'' pili trianguli et canaliculi,'' or cheveux incoiffables'' is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well as - recessive inheritance have been reported. However, none of these case subjects were linked to a molecular genetic cause. Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. All of these individuals carry homozygous or compound heterozygous mutations in one of these three genes, indicating an autosomal-recessive inheritance pattern in the majority of UHS case subjects. The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation. Elucidation of the molecular outcomes of the disease-causing mutations by cell culture experiments and tridimensional protein models demonstrated clear differences in the structural organization and activity of mutant and wildtype proteins. Scanning electron microscopy observations revealed morphological alterations in hair coat of Padi3 knockout mice. All together, these findings elucidate the molecular genetic causes of UHS and shed light on its pathophysiology and hair physiology in general.
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- 2016
21. Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura
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Basmanav, F. Buket, Fritz, Guenter, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette, Betz, Regina C., Basmanav, F. Buket, Fritz, Guenter, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette, and Betz, Regina C.
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- 2015
22. Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1and Further Insights into Disease Pathogenesis
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Ralser, Damian J., Takeuchi, Hideyuki, Fritz, Günter, Basmanav, F. Buket, Effern, Maike, Sivalingam, Sugirthan, El-Shabrawi-Caelen, Laila, Degirmentepe, Ece N., Kocatürk, Emek, Singh, Manuraj, Booken, Nina, Spierings, Natalia M.K., Schnabel, Viktor, Heineke, Andre, Knuever, Jana, Wolf, Sabrina, Wehner, Maria, Tronnier, Michael, Leverkus, Martin, Tantcheva-Poór, Iliana, Wenzel, Jörg, Oji, Vinzenz, Has, Cristina, Hölzel, Michael, Frank, Jorge, Haltiwanger, Robert S., and Betz, Regina C.
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- 2019
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23. Investigation of the role ofTCF4rare sequence variants in schizophrenia
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Basmanav, F. Buket, primary, Forstner, Andreas J., additional, Fier, Heide, additional, Herms, Stefan, additional, Meier, Sandra, additional, Degenhardt, Franziska, additional, Hoffmann, Per, additional, Barth, Sandra, additional, Fricker, Nadine, additional, Strohmaier, Jana, additional, Witt, Stephanie H., additional, Ludwig, Michael, additional, Schmael, Christine, additional, Moebus, Susanne, additional, Maier, Wolfgang, additional, Mössner, Rainald, additional, Rujescu, Dan, additional, Rietschel, Marcella, additional, Lange, Christoph, additional, Nöthen, Markus M., additional, and Cichon, Sven, additional
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- 2015
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24. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
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Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, Betz, Regina C., Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, and Betz, Regina C.
- Abstract
Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyper-pigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without mutations in KRT5. Data analysis identified three heterozygous mutations from these individuals, all within the same gene. These mutations, namely c.11G>A (p.Trp4*), c.652C>T (p.Arg218*), and c.798-2A>C, are within POGLUT1, which encodes protein O-glucosyltransferase 1. Further screening of unexplained cases for POGLUT1 identified six additional mutations, as well as two of the above described mutations. Immunohistochemistry of skin biopsies of affected individuals with POGLUT1 mutations showed significantly weaker POGLUT1 staining in comparison to healthy controls with strong localization of POGLUT1 in the upper parts of the epidermis. Immunoblot analysis revealed that translation of either wild-type (WT) POGLUT1 or of the protein carrying the p.Arg279Trp substitution led to the expected size of about 50 kDa, whereas the c.652C>T (p.Arg218*) mutation led to translation of a truncated protein of about 30 kDa. Immunofluorescence analysis identified a colocalization of the WT protein with the endoplasmic reticulum and a notable aggregating pattern for the truncated protein. Recently, mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were also reported to be responsible for DDD. Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity. Our results furthermore emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology.
- Published
- 2014
25. Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients
- Author
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Mühleisen, Thomas W., Basmanav, F. Buket, Forstner, Andreas J., Mattheisen, Manuel, Priebe, Lutz, Herms, Stefan, Breuer, Rene, Moebus, Susanne, Nenadic, Igor, Sauer, Heinrich, Mössner, Rainald, Maier, Wolfgang, Rujescu, Dan, Ludwig, Michael, Rietschel, Marcella, Nöthen, Markus M., and Cichon, Sven
- Published
- 2011
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26. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
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Basmanav, F. Buket, primary, Oprisoreanu, Ana-Maria, additional, Pasternack, Sandra M., additional, Thiele, Holger, additional, Fritz, Günter, additional, Wenzel, Jörg, additional, Größer, Leopold, additional, Wehner, Maria, additional, Wolf, Sabrina, additional, Fagerberg, Christina, additional, Bygum, Anette, additional, Altmüller, Janine, additional, Rütten, Arno, additional, Parmentier, Laurent, additional, El Shabrawi-Caelen, Laila, additional, Hafner, Christian, additional, Nürnberg, Peter, additional, Kruse, Roland, additional, Schoch, Susanne, additional, Hanneken, Sandra, additional, and Betz, Regina C., additional
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- 2014
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27. Investigation of the role of TCF4 rare sequence variants in schizophrenia.
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Basmanav, F. Buket, Forstner, Andreas J., Fier, Heide, Herms, Stefan, Meier, Sandra, Degenhardt, Franziska, Hoffmann, Per, Barth, Sandra, Fricker, Nadine, Strohmaier, Jana, Witt, Stephanie H., Ludwig, Michael, Schmael, Christine, Moebus, Susanne, Maier, Wolfgang, Mössner, Rainald, Rujescu, Dan, Rietschel, Marcella, Lange, Christoph, and Nöthen, Markus M.
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- 2015
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28. Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura.
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Basmanav, F Buket, Fritz, Günter, Lestringant, Gilles G, Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmüller, Janine, Pulimood, Susanne A, Rütten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette, and Betz, Regina C
- Subjects
- *
DOWLING-Degos disease , *GLYCOSYLTRANSFERASES , *GENETIC mutation , *HYPERPIGMENTATION , *BLOOD sampling - Abstract
The article focuses on study related to identification of pathogenic protein O-glucosyltransferase 1 (POFUT1) mutation in Dowling-Degos disease (DDD). Topics discussed include DDD as an reticulate pigmentary disorder, development of post-pubertal reticulate hyperpigmentation and hyperkeratotic dark-brown papules in DDD affected individual and written inform consent provide to participants before blood sampling during the study.
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- 2015
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29. Research Paper. Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia.
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Forstner, Andreas J., Basmanav, F. Buket, Mattheisen, Manuel, Böhmer, Anne C., Hollegaard, Mads V., Janson, Esther, Strengman, Eric, Priebe, Lutz, Degenhardt, Franziska, Hoffmann, Per, Herms, Stefan, Maier, Wolfgang, Mössner, Rainald, Rujescu, Dan, Ophoff, Roel A., Moebus, Susanne, Mortensen, Preben B., Børglum, Anders D., Hougaard, David M., and Frank, Josef
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- *
GENETICS of schizophrenia , *ANIMAL experimentation , *GENE expression , *GENES , *MICE , *RESEARCH funding , *SCHIZOPHRENIA , *CASE-control method , *SEQUENCE analysis , *GENOTYPES - Abstract
Background: Schizophrenia is a complex neuropsychiatric disorder of unclear etiology. The strongest known genetic risk factor is the 22q11.2 microdeletion. Research has yet to confirm which genes within the deletion region are implicated in schizophrenia. The minimal 1.5 megabase deletion contains MIR185, which encodes microRNA 185. Methods: We determined miR-185 expression in embryonic and adult mouse brains. Common and rare variants at this locus were then investigated using a human genetics approach. First, we performed gene-based analyses for MIR185 common variants and target genes using Psychiatric Genomics Consortium genome-wide association data. Second, MIR185 was resequenced in German patients (n = 1000) and controls (n = 500). We followed up promising variants by genotyping an additional European sample (patients, n = 3598; controls, n = 4082). Results: In situ hybridization in mice revealed miR-185 expression in brain regions implicated in schizophrenia. Gene-based tests revealed association between common variants in 3 MIR185 target genes (ATAT1, SH3PXD2A, NTRK3) and schizophrenia. Further analyses in mice revealed overlapping expression patterns for these target genes and miR185. Resequencing identified 2 rare patient-specific novel variants flanking MIR185. However, follow-up genotyping provided no further evidence of their involvement in schizophrenia. Limitations: Power to detect rare variant associations was limited. Conclusion: Human genetic analyses generated no evidence of the involvement of MIR185 in schizophrenia. However, the expression patterns of miR-185 and its target genes in mice, and the genetic association results for the 3 target genes, suggest that further research into the involvement of miR-185 and its downstream pathways in schizophrenia is warranted. [ABSTRACT FROM AUTHOR]
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- 2014
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30. Investigation of the role of TCF4rare sequence variants in schizophrenia
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Basmanav, F. Buket, Forstner, Andreas J., Fier, Heide, Herms, Stefan, Meier, Sandra, Degenhardt, Franziska, Hoffmann, Per, Barth, Sandra, Fricker, Nadine, Strohmaier, Jana, Witt, Stephanie H., Ludwig, Michael, Schmael, Christine, Moebus, Susanne, Maier, Wolfgang, Mössner, Rainald, Rujescu, Dan, Rietschel, Marcella, Lange, Christoph, Nöthen, Markus M., and Cichon, Sven
- Abstract
Transcription factor 4 (TCF4) is one of the most robust of all reported schizophrenia risk loci and is supported by several genetic and functional lines of evidence. While numerous studies have implicated common genetic variation at TCF4in schizophrenia risk, the role of rare, small‐sized variants at this locus‐such as single nucleotide variants and short indels which are below the resolution of chip‐based arrays requires further exploration. The aim of the present study was to investigate the association between rare TCF4sequence variants and schizophrenia. Exon‐targeted resequencing was performed in 190 German schizophrenia patients. Six rare variants at the coding exons and flanking sequences of the TCF4gene were identified, including two missense variants and one splice site variant. These six variants were then pooled with nine additional rare variants identified in 379 European participants of the 1000 Genomes Project, and all 15 variants were genotyped in an independent German sample (n = 1,808 patients; n = 2,261 controls). These data were then analyzed using six statistical methods developed for the association analysis of rare variants. No significant association (P< 0.05) was found. However, the results from our association and power analyses suggest that further research into the possible involvement of rare TCF4sequence variants in schizophrenia risk is warranted by the assessment of larger cohorts with higher statistical power to identify rare variant associations. © 2015 Wiley Periodicals, Inc.
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- 2015
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31. Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.
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REDLER, Silke, BASMANAV, F. Buket Ü., BLAUMEISER, Bettina, GARCIA BARTELS, Natalie, LUTZ, Gerhard, TAFAZZOLI, Aylar, KRUSE, Roland, WOLFF, Hans, BÖHM, Markus, BLUME-PEYTAVI, Ulrike, BECKER, Tim, NÖTHEN, Markus M., and BETZ, Regina C.
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ALOPECIA areata , *PATIENTS , *HEREDITY , *HERALDRY , *SENTIMENT analysis - Abstract
The article presents a study aimed to analyze the possible parent-of-origin effect in Alopecia areata (AA). The study was conducted through a sentiment analysis performed in 2,230 3-generation pedigrees wherein information about the rates of affected individual of parents and first-degree relatives was obtained. The results of the study show that pedigree analysis is limited to data on the rates of affected individuals.
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- 2017
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32. Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis
- Author
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Ralser, Damian J., Takeuchi, Hideyuki, Fritz, Günter, Basmanav, F. Buket, Effern, Maike, Sivalingam, Sugirthan, El-Shabrawi-Caelen, Laila, Degirmentepe, Ece N., Kocatürk, Emek, Singh, Manuraj, Booken, Nina, Spierings, Natalia M. K., Schnabel, Viktor, Heineke, Andre, Knuever, Jana, Wolf, Sabrina, Wehner, Maria, Tronnier, Michael, Leverkus, Martin, Tantcheva-Poór, Iliana, Wenzel, Jörg, Oji, Vinzenz, Has, Cristina, Hölzel, Michael, Frank, Jorge, Haltiwanger, Robert S., and Betz, Regina C.
- Subjects
3. Good health - Abstract
The journal of investigative dermatology 139(4), 960-964 (2018). doi:10.1016/j.jid.2018.10.030, Published by Elsevier, Amsterdam
33. Uncombable hair syndrome: burdensome or captivating?
- Author
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Heyers A, Basmanav FB, and Betz RC
- Abstract
Competing Interests: Conflicts of interest The authors declare they have no conflicts of interest.
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- 2024
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34. A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix.
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Xiong X, Cesarato N, Gossmann Y, Wehner M, Kumar S, Thiele H, Demuth S, Oji V, Geyer M, Hamm H, Basmanav FB, and Betz RC
- Abstract
Background: Monilethrix is a rare hereditary hair disorder that is characterised by a beaded hair shaft structure and increased hair fragility. Patients may also present with keratosis pilaris and nail changes. Research has identified three genes for autosomal-dominant monilethrix (KRT81, KRT83, and KRT86), and one gene for the autosomal-recessive form (DSG4)., Objectives: To investigate the genetic basis of autosomal-dominant monilethrix in families with no pathogenic variants in any of the known monilethrix genes, and to understand the mechanistic basis of variant pathogenicity using a cellular model., Methods: Nine affected individuals from four unrelated families were included in this study. A clinical diagnosis of monilethrix was assigned based on clinical examination and/or trichoscopy. Exome sequencing (ES) was performed in six individuals to identify pathogenic variants, and Sanger sequencing was used for co-segregation and haplotype analyses. Cell culture experiments (immunoblotting, immunofluorescence, and reverse transcription quantitative real-time polymerase chain reaction (RT-qPCR) analyses) were used to confirm variant pathogenicity, to determine expression and subcellular localisation of proteins, and to identify a possible nonsense-mediated mRNA decay., Results: In six affected individuals with clinically suggested monilethrix, ES led to the identification of the nonsense variant c.1081G>T; p.(Glu361*) in KRT31, which was subsequently identified in other affected members of these families by Sanger sequencing. This variant led to the abolition of both the last three amino acids of the 2B subdomain and the complete C-terminal tail domain of keratin 31. Immunoblotting demonstrated that when co-expressed with its binding partner keratin 85, the truncated keratin 31 was still expressed, albeit less abundantly than the wild type protein. Immunofluorescence revealed that p.(Glu361*) keratin 31 had an altered cytoskeletal localisation and formed vesicular-like structures in the cell cytoplasm near the cell membrane. RT-qPCR analysis did not generate evidence for a nonsense mediated decay of the mutant transcript., Conclusions: This study is the first to identify pathogenic variants in KRT31 as a cause of autosomal-dominant monilethrix. This highlights the importance of hair keratin proteins in hair biology, and will increase the molecular diagnostic yield for rare ectodermal phenotypes of hair and nail tissues., (© The Author(s) 2024. Published by Oxford University Press on behalf of British Association of Dermatologists. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
- Published
- 2024
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35. Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
- Author
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Fischer J, Degenhardt F, Hofmann A, Redler S, Basmanav FB, Heilmann-Heimbach S, Hanneken S, Giehl KA, Wolff H, Moebus S, Kruse R, Lutz G, Blaumeiser B, Böhm M, Garcia Bartels N, Blume-Peytavi U, Petukhova L, Christiano AM, Nöthen MM, and Betz RC
- Subjects
- Adult, Belgium, Chromosome Mapping, Cohort Studies, Europe, Female, Genotype, Germany, Humans, Hypothalamic Hormones metabolism, Male, Melanins metabolism, Netherlands, Pigmentation, Pituitary Hormones metabolism, Polymorphism, Single Nucleotide, Signal Transduction, Alopecia Areata genetics, DNA Copy Number Variations, Genome-Wide Association Study, Receptors, G-Protein-Coupled genetics, Receptors, Pituitary Hormone genetics
- Abstract
Alopecia areata (AA) is a common hair loss disorder of autoimmune aetiology, which often results in pronounced psychological distress. Understanding of the pathophysiology of AA is increasing, due in part to recent genetic findings implicating common variants at several genetic loci. To date, no study has investigated the contribution of copy number variants (CNVs) to AA, a prominent class of genomic variants involved in other autoimmune disorders. Here, we report a genomewide- and a candidate gene-focused CNV analysis performed in a cohort of 585 patients with AA and 1340 controls of Central European origin. A nominally significant association with AA was found for CNVs in the following five chromosomal regions: 4q35.2, 6q16.3, 9p23, 16p12.1 and 20p12.1. The most promising finding was a 342.5-kb associated region in 6q16.3 (duplications in 4/585 patients; 0/1340 controls). The duplications spanned the genes MCHR2 and MCHR2-AS1, implicated in melanin-concentrating hormone (MCH) signalling. These genes have not been implicated in previous studies of AA pathogenesis. However, previous research has shown that MCHR2 affects the scale colour of barfin flounder fish via the induction of melanin aggregation. AA preferentially affects pigmented hairs, and the hair of patients with AA frequently shows a change in colour when it regrows following an acute episode of AA. This might indicate a relationship between AA, pigmentation and MCH signalling. In conclusion, the present results provide suggestive evidence for the involvement of duplications in MCHR2 in AA pathogenesis., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2017
- Full Text
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36. Sequential growth factor delivery from complexed microspheres for bone tissue engineering.
- Author
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Basmanav FB, Kose GT, and Hasirci V
- Subjects
- Alkaline Phosphatase metabolism, Animals, Bone Morphogenetic Proteins pharmacology, Cattle, Cell Proliferation drug effects, Humans, Kinetics, Microscopy, Confocal, Microscopy, Electron, Scanning, Porosity drug effects, Rats, Rats, Sprague-Dawley, Serum Albumin, Bovine metabolism, Stem Cells cytology, Stem Cells drug effects, Stem Cells enzymology, Stem Cells ultrastructure, Bone and Bones drug effects, Bone and Bones metabolism, Drug Delivery Systems, Intercellular Signaling Peptides and Proteins pharmacology, Microspheres, Tissue Engineering
- Abstract
Aim of the study was to design a 3D tissue-engineering scaffold capable of sequentially delivering two bone morphogenetic proteins (BMP). The novel delivery system consisted of microspheres of polyelectrolyte complexes of poly(4-vinyl pyridine) (P(4)VN) and alginic acid loaded with the growth factors BMP-2 and BMP-7 which themselves were loaded into the scaffolds constructed of PLGA. Microspheres carrying the growth factors were prepared using polyelectrolyte solutions with different concentrations (4-10%) to control the growth factor release rate. Release kinetics was studied using albumin as the model drug and the populations that release their contents very early and very late in the release study were selected to carry BMP-2 and BMP-7, respectively. Foam porosity changed when the microspheres were loaded. Bone marrow derived stem cells (BMSC) from rats were seeded into these foams. Alkaline phosphatase (ALP) activities were found to be lowest and cell proliferation was highest at all time points with foams carrying both the microsphere populations, regardless of BMP presence. With the present doses used neither BMP-2 nor BMP-7 delivery had any direct effect on proliferation, however, they enhanced osteogenic differentiation. Co-administration of BMP enhanced osteogenic differentiation to a higher degree than with their single administration.
- Published
- 2008
- Full Text
- View/download PDF
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