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2. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Author

Kaur, M, Blair, J, Devkota, B, Fortunato, S, Clark, D, Lawrence, A, Kim, J, Do, W, Semeo, B, Katz, O, Mehta, D, Yamamoto, N, Schindler, E, Al Rawi, Z, Wallace, N, Wilde, JJ, McCallum, J, Liu, J, Xu, D, Jackson, M, Rentas, S, Tayoun, AA, Zhe, Z, Abdul-Rahman, O, Allen, B, Angula, MA, Anyane-Yeboa, K, Argente, J, Arn, PH, Armstrong, L, Basel-Salmon, L, Baynam, G, Bird, LM, Bruegger, D, Ch'ng, G-S, Chitayat, D, Clark, R, Cox, GF, Dave, U, DeBaere, E, Field, M, Graham, JM, Gripp, KW, Greenstein, R, Gupta, N, Heidenreich, R, Hoffman, J, Hopkin, RJ, Jones, KL, Jones, MC, Kariminejad, A, Kogan, J, Lace, B, Leroy, J, Lynch, SA, McDonald, M, Meagher, K, Mendelsohn, N, Micule, I, Moeschler, J, Nampoothiri, S, Ohashi, K, Powell, CM, Ramanathan, S, Raskin, S, Roeder, E, Rio, M, Rope, AF, Sangha, K, Scheuerle, AE, Schneider, A, Shalev, S, Siu, V, Smith, R, Stevens, C, Tkemaladze, T, Toimie, J, Toriello, H, Turner, A, Wheeler, PG, White, SM, Young, T, Loomes, KM, Pipan, M, Harrington, AT, Zackai, E, Rajagopalan, R, Conlin, L, Deardorff, MA, McEldrew, D, Pie, J, Ramos, F, Musio, A, Kline, AD, Izumi, K, Raible, SE, Krantz, ID, Kaur, M, Blair, J, Devkota, B, Fortunato, S, Clark, D, Lawrence, A, Kim, J, Do, W, Semeo, B, Katz, O, Mehta, D, Yamamoto, N, Schindler, E, Al Rawi, Z, Wallace, N, Wilde, JJ, McCallum, J, Liu, J, Xu, D, Jackson, M, Rentas, S, Tayoun, AA, Zhe, Z, Abdul-Rahman, O, Allen, B, Angula, MA, Anyane-Yeboa, K, Argente, J, Arn, PH, Armstrong, L, Basel-Salmon, L, Baynam, G, Bird, LM, Bruegger, D, Ch'ng, G-S, Chitayat, D, Clark, R, Cox, GF, Dave, U, DeBaere, E, Field, M, Graham, JM, Gripp, KW, Greenstein, R, Gupta, N, Heidenreich, R, Hoffman, J, Hopkin, RJ, Jones, KL, Jones, MC, Kariminejad, A, Kogan, J, Lace, B, Leroy, J, Lynch, SA, McDonald, M, Meagher, K, Mendelsohn, N, Micule, I, Moeschler, J, Nampoothiri, S, Ohashi, K, Powell, CM, Ramanathan, S, Raskin, S, Roeder, E, Rio, M, Rope, AF, Sangha, K, Scheuerle, AE, Schneider, A, Shalev, S, Siu, V, Smith, R, Stevens, C, Tkemaladze, T, Toimie, J, Toriello, H, Turner, A, Wheeler, PG, White, SM, Young, T, Loomes, KM, Pipan, M, Harrington, AT, Zackai, E, Rajagopalan, R, Conlin, L, Deardorff, MA, McEldrew, D, Pie, J, Ramos, F, Musio, A, Kline, AD, Izumi, K, Raible, SE, and Krantz, ID

Abstract

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or "DTRs"). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.

Published
2023

3. Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to “Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma” by Cárcamo et al. 2022

Author

Genetica, CMM Onderwijs Celbiologie, Genetica Klinische Genetica, Cancer, Child Health, van der Sluijs, P. J., Vergano, S. A., Roeder, E. R., Jongmans, M. C.J., Santen, G. W.E., Genetica, CMM Onderwijs Celbiologie, Genetica Klinische Genetica, Cancer, Child Health, van der Sluijs, P. J., Vergano, S. A., Roeder, E. R., Jongmans, M. C.J., and Santen, G. W.E.

Published
2023

11. Cornelia de Lange syndrome in diverse populations.

Author

Dowsett, L, Porras, AR, Kruszka, P, Davis, B, Hu, T, Honey, E, Badoe, E, Thong, M-K, Leon, E, Girisha, KM, Shukla, A, Nayak, SS, Shotelersuk, V, Megarbane, A, Phadke, S, Sirisena, ND, Dissanayake, VHW, Ferreira, CR, Kisling, MS, Tanpaiboon, P, Uwineza, A, Mutesa, L, Tekendo-Ngongang, C, Wonkam, A, Fieggen, K, Batista, LC, Moretti-Ferreira, D, Stevenson, RE, Prijoles, EJ, Everman, D, Clarkson, K, Worthington, J, Kimonis, V, Hisama, F, Crowe, C, Wong, P, Johnson, K, Clark, RD, Bird, L, Masser-Frye, D, McDonald, M, Willems, P, Roeder, E, Saitta, S, Anyane-Yeoba, K, Demmer, L, Hamajima, N, Stark, Z, Gillies, G, Hudgins, L, Dave, U, Shalev, S, Siu, V, Ades, A, Dubbs, H, Raible, S, Kaur, M, Salzano, E, Jackson, L, Deardorff, M, Kline, A, Summar, M, Muenke, M, Linguraru, MG, Krantz, ID, Dowsett, L, Porras, AR, Kruszka, P, Davis, B, Hu, T, Honey, E, Badoe, E, Thong, M-K, Leon, E, Girisha, KM, Shukla, A, Nayak, SS, Shotelersuk, V, Megarbane, A, Phadke, S, Sirisena, ND, Dissanayake, VHW, Ferreira, CR, Kisling, MS, Tanpaiboon, P, Uwineza, A, Mutesa, L, Tekendo-Ngongang, C, Wonkam, A, Fieggen, K, Batista, LC, Moretti-Ferreira, D, Stevenson, RE, Prijoles, EJ, Everman, D, Clarkson, K, Worthington, J, Kimonis, V, Hisama, F, Crowe, C, Wong, P, Johnson, K, Clark, RD, Bird, L, Masser-Frye, D, McDonald, M, Willems, P, Roeder, E, Saitta, S, Anyane-Yeoba, K, Demmer, L, Hamajima, N, Stark, Z, Gillies, G, Hudgins, L, Dave, U, Shalev, S, Siu, V, Ades, A, Dubbs, H, Raible, S, Kaur, M, Salzano, E, Jackson, L, Deardorff, M, Kline, A, Summar, M, Muenke, M, Linguraru, MG, and Krantz, ID

Abstract

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Published
2019

13. Fetuin-A as a Possible Marker of Nonalcoholic Fatty Liver Disease in Patients with Non-Surgical Weight Loss

Author

Groener Jb, Lehnhoff D, Roeder E, Gottfried Rudofsky, Piel D, Christian Wolfrum, and Kender Z

Subjects
medicine.medical_specialty, medicine.diagnostic_test, business.industry, nutritional and metabolic diseases, Overweight, medicine.disease, Bioinformatics, Gastroenterology, digestive system diseases, Liver disease, Weight loss, Internal medicine, Liver biopsy, Nonalcoholic fatty liver disease, medicine, Steatohepatitis, medicine.symptom, business, Transient elastography, Body mass index
Abstract

Objective: Overweight and obesity are ranked as the fifth leading cause for global deaths and significantly contribute to nonalcoholic fatty liver disease (NAFLD), a common comorbidity finally leading to end-stage liver disease. The diagnostic tool for confirming NAFLD is liver biopsy, an invasive procedure known to cause complications. Results from transient elastography are not reliable in obese patients. Therefore, alternative diagnostic approaches are necessary. One putative biomarker is fetuin-A, also known as α2-Heremans-Schmid Glycoprotein (AHSG), which has been proposed for the diagnosis of NAFLD. We therefore aimed to examine the role of fetuin-A in severely obese patients and its value in predicting NAFLD. Methods: 62 obese patients with a body mass index of at least 30 kg/m2 undergoing a medically supervised weight loss program were analysed at time points T0 (before weight loss), T1 (after non-surgical weight loss within 12 weeks), and T2 (after 52 weeks). Anthropometrical parameters, laboratory values for NAFLD, fetuin-A, “Fatty Liver-index” (FLI), and NASH-Score were determined. Results: 38 out of 62 patients completed the program. These patients showed a significant decrease in BMI (T0: 41.5 ± 7.1 kg/m2; T2: 33.5 ± 7.0 kg/m2; p

Published
2017

16. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes

Author

Gil-Rodriguez, M.C., Deardorff, M.A., Ansari, M., Tan, C.A., Parenti, I., Baquero-Montoya, C., Ousager, L.B., Puisac, B., Hernandez-Marcos, M., Teresa-Rodrigo, M.E., Marcos-Alcalde, I., Wesselink, J.J., Lusa-Bernal, S., Bijlsma, E.K., Braunholz, D., Bueno-Martinez, I., Clark, D., Cooper, N.S., Curry, C.J., Fisher, R., Fryer, A., Ganesh, J., Gervasini, C., Gillessen-Kaesbach, G., Guo, Y., Hakonarson, H., Hopkin, R.J., Kaur, M., Keating, B.J., Kibaek, M., Kinning, E., Kleefstra, T., Kline, A.D., Kuchinskaya, E., Larizza, L., Li, Y.R., Liu, X., Mariani, M., Picker, J.D., Pie, A., Pozojevic, J., Queralt, E., Richer, J., Roeder, E., Sinha, A., Scott, R.H., So, J., Wusik, K.A., Wilson, L., Zhang, J., Gomez-Puertas, P., Casale, C.H., Strom, L., Selicorni, A., Ramos, F.J., Jackson, L.G., Krantz, I.D., Das, S., Hennekam, R.C., Kaiser, F.J., FitzPatrick, D.R., Pie, J., Gil-Rodriguez, M.C., Deardorff, M.A., Ansari, M., Tan, C.A., Parenti, I., Baquero-Montoya, C., Ousager, L.B., Puisac, B., Hernandez-Marcos, M., Teresa-Rodrigo, M.E., Marcos-Alcalde, I., Wesselink, J.J., Lusa-Bernal, S., Bijlsma, E.K., Braunholz, D., Bueno-Martinez, I., Clark, D., Cooper, N.S., Curry, C.J., Fisher, R., Fryer, A., Ganesh, J., Gervasini, C., Gillessen-Kaesbach, G., Guo, Y., Hakonarson, H., Hopkin, R.J., Kaur, M., Keating, B.J., Kibaek, M., Kinning, E., Kleefstra, T., Kline, A.D., Kuchinskaya, E., Larizza, L., Li, Y.R., Liu, X., Mariani, M., Picker, J.D., Pie, A., Pozojevic, J., Queralt, E., Richer, J., Roeder, E., Sinha, A., Scott, R.H., So, J., Wusik, K.A., Wilson, L., Zhang, J., Gomez-Puertas, P., Casale, C.H., Strom, L., Selicorni, A., Ramos, F.J., Jackson, L.G., Krantz, I.D., Das, S., Hennekam, R.C., Kaiser, F.J., FitzPatrick, D.R., and Pie, J.

Abstract

Item does not contain fulltext, Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximately 1%-2% of CdLS-like phenotypes.

Published
2015

18. Design of a four-channel array coil for dual high-resolution rat knee MR Imaging

Author

Perrier, A.-L., Goebel, J.-C., Pinzano, A., Roeder, E., Gillet, P., Grenier, D., Beuf, O., 5 - RMN et optique : De la mesure aux biomarqueurs, Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé ( CREATIS ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon ( INSA Lyon ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Hospices Civils de Lyon ( HCL ) -Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Hospices Civils de Lyon ( HCL ) -Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Physiopathologie, Pharmacologie et Ingénierie articulaires ( PPIA ), Université Henri Poincaré - Nancy 1 ( UHP ) -Centre National de la Recherche Scientifique ( CNRS ), RMN et optique : De la mesure au biomarqueur, Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie, Pharmacologie et Ingénierie articulaires (PPIA), Université Henri Poincaré - Nancy 1 (UHP)-Centre National de la Recherche Scientifique (CNRS), and Plateforme d'Imagerie Multimodale LyonTech (PILoT)

Subjects
[ SPI.SIGNAL ] Engineering Sciences [physics]/Signal and Image processing, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, ComputingMilieux_MISCELLANEOUS, Computer Science::Information Theory
Abstract

In Magnetic Resonance Imaging (MRI), multi-channel coils are extensively used to improve Signal-to-Noise Ratio (SNR) in order to increase spatial and/or temporal image resolution. Recent decoupling techniques based on common conductor that do not require additional preamplifier for the decoupling between elements was achieved for the conception of two-channel surface transceiver coils (1-2). In this paper, based on this common conductor decoupling technique (3), a topology of a four-channel coil was described. Based on this concept, a four-channel surface receiver coil was designed to achieve simultaneous acquisition of both rat knee joints at 7T.

Published
2013

19. Bio-integration assessment of rat knee cartilage repair using in vivo MRI at 7T

Author

Beuf, O., Goebel, J.-C., Roeder, E., Perrier, A.-L., Grenier, D., Gillet, P., Pinzano, A., Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Bonn, Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Service de Pharmacologie Clinique et Toxicologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Physiopathologie, Pharmacologie et Ingénierie articulaires (PPIA), Université Henri Poincaré - Nancy 1 (UHP)-Centre National de la Recherche Scientifique (CNRS), RMN et optique : De la mesure au biomarqueur, Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), 5 - RMN et optique : De la mesure aux biomarqueurs, Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé ( CREATIS ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon ( INSA Lyon ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Hospices Civils de Lyon ( HCL ) -Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Hospices Civils de Lyon ( HCL ) -Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Physiopathologie, Pharmacologie et Ingénierie articulaires ( PPIA ), Université Henri Poincaré - Nancy 1 ( UHP ) -Centre National de la Recherche Scientifique ( CNRS ), and Plateforme d'Imagerie Multimodale LyonTech (PILoT)

Subjects
[SDV]Life Sciences [q-bio], [ SPI.SIGNAL ] Engineering Sciences [physics]/Signal and Image processing, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, ComputingMilieux_MISCELLANEOUS
Abstract

High-field Magnetic Resonance systems allowing high-resolution Magnetic Resonance Imaging (HR-MRI) is a powerful research tool to visualize and examine hyaline cartilage of small joints non-invasively. Different studies have shown that qualitative assessment of degenerative joint disease, derived from MR images, was reliable (1). The capability to show pathologic changes throughout the time course of the disease from three-dimensional (3D) datasets has also been demonstrated. However, in vivo quantitative imaging for an accurate determination of cartilage thickness and volume is challenging due to small size of rodent joints and dedicated coils are mandatory (2-3). Surgical articular cartilage repair therapies for cartilage defects such as osteochondral autograft transfer, autologous chondrocyte implantation or matrix associated autologous cell transplantation require non-invasive technique to evaluate longitudinally the biointegration of the graft. The aim of this study was to follow using 7T MRI the biointegration of biomaterials colonized by mesenchymal stem cells or not after implantation in a calibrated full thickness focal lesion in the rat knee.

Published
2013

20. Evaluation of bio-integration of rat knee cartilage repair using in vivo MRI at 7T

Author

C Goebel, J., Roeder, E., L Perrier, A., Grenier, D., Gillet, P., Astrid PINZANO, Beuf, O., Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé ( CREATIS ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon ( INSA Lyon ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Hospices Civils de Lyon ( HCL ) -Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Physiopathologie, Pharmacologie et Ingénierie articulaires ( PPIA ), Université Henri Poincaré - Nancy 1 ( UHP ) -Centre National de la Recherche Scientifique ( CNRS ), 5 - RMN et optique : De la mesure aux biomarqueurs, Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Hospices Civils de Lyon ( HCL ) -Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Claude Bernard Lyon 1 ( UCBL ), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie, Pharmacologie et Ingénierie articulaires (PPIA), Université Henri Poincaré - Nancy 1 (UHP)-Centre National de la Recherche Scientifique (CNRS), RMN et optique : De la mesure au biomarqueur, Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Plateforme d'Imagerie Multimodale LyonTech (PILoT), ANR-09-BLAN-0150,CEMABIR(2009), and ANR-11-LABX-0063,PRIMES,Physique, Radiobiologie, Imagerie Médicale et Simulation(2011)

Subjects
[ SPI.SIGNAL ] Engineering Sciences [physics]/Signal and Image processing, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing
Abstract

National audience; High-field magnetic resonance systems allowing high-resolution magnetic resosnance imaging -HR-MRI) is a powerful research tool to visualize and examine hyaline cartilage of small joints non-invasively. Different studies have shown that qualitative assessment of degenerative joint disease, derived from MR images, was reliable. The capability to show pathologic changes throughout the time course of the disease from three-dimensional (3D) datasets has also been demonstrated. However, in vivo quantitative imaging for an accurate determination of cartilage thickness and volume is challenging due to small size of rodent joints and dedicated coils are mandatory. Surgical articular cartilage repair therapies for cartilage defects such as osteochondral autograft transfer, autologous chondrocyte implantation or matrix associated autologous cell transplantation require non invasive technique to evaluate longitudinally the biointegration of the graft. The aim of this study was to follow using 7T MRI the biointegration of biomaterials colonized by mesenchymal stem cells or not after implantation in a calibrated full thickness focal lesion in the rat knee.

Published
2012

24. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Author

Kaiser, F.J., Ansari, M., Braunholz, D., Concepcion Gil-Rodriguez, M., Decroos, C., Wilde, J.J., Fincher, C.T., Kaur, M., Bando, M., Amor, D.J., Atwal, P.S., Bahlo, M., Bowman, C.M., Bradley, J.J., Brunner, H.G., Clark, D., Campo, M. del, Donato, N. Di, Diakumis, P., Dubbs, H., Dyment, D.A., Eckhold, J., Ernst, S., Ferreira, J.C., Francey, L.J., Gehlken, U., Guillen-Navarro, E., Gyftodimou, Y., Hall, B.D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J.M., Yntema, H.G., Innes, A.M., Kline, A.D., Krumina, Z., Lee, H. van der, Leppig, K., Lynch, S.A., Mallozzi, M.B., Mannini, L., McKee, S., Mehta, S.G., Micule, I., Mohammed, S., Moran, E., Mortier, G.R., Moser, J.A., Noon, S.E., Nozaki, N., Nunes, L., Pappas, J.G., Penney, L.S., Perez-Aytes, A., Petersen, M.B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A.E., Schindeler, K.L., Siu, V.M., Stark, Z., Strom, S.P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L.C., Baylor-Hopkins Mendelian, G., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F.J., Jackson, L.G., Shirahige, K., Pie, J., Christianson, D.W., Krantz, I.D., FitzPatrick, D.R., Deardorff, M.A., et al., Kaiser, F.J., Ansari, M., Braunholz, D., Concepcion Gil-Rodriguez, M., Decroos, C., Wilde, J.J., Fincher, C.T., Kaur, M., Bando, M., Amor, D.J., Atwal, P.S., Bahlo, M., Bowman, C.M., Bradley, J.J., Brunner, H.G., Clark, D., Campo, M. del, Donato, N. Di, Diakumis, P., Dubbs, H., Dyment, D.A., Eckhold, J., Ernst, S., Ferreira, J.C., Francey, L.J., Gehlken, U., Guillen-Navarro, E., Gyftodimou, Y., Hall, B.D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J.M., Yntema, H.G., Innes, A.M., Kline, A.D., Krumina, Z., Lee, H. van der, Leppig, K., Lynch, S.A., Mallozzi, M.B., Mannini, L., McKee, S., Mehta, S.G., Micule, I., Mohammed, S., Moran, E., Mortier, G.R., Moser, J.A., Noon, S.E., Nozaki, N., Nunes, L., Pappas, J.G., Penney, L.S., Perez-Aytes, A., Petersen, M.B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A.E., Schindeler, K.L., Siu, V.M., Stark, Z., Strom, S.P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L.C., Baylor-Hopkins Mendelian, G., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F.J., Jackson, L.G., Shirahige, K., Pie, J., Christianson, D.W., Krantz, I.D., FitzPatrick, D.R., Deardorff, M.A., and et al.

Abstract

Item does not contain fulltext, Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for approximately 5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

Published
2014

29. Pentapeptides from the roots of Aster tataricus

Author

Dl, Cheng, Shao Y, Zhao K, Rudolf Hartmann, and Roeder E

Subjects
Magnetic Resonance Spectroscopy, Plants, Medicinal, Molecular Sequence Data, Spectrophotometry, Ultraviolet, Amino Acid Sequence, Oligopeptides, Plant Roots
Abstract

Asterinin D and E, pentapeptides, have been isolated from the roots of Aster tataricus L.f. (Compositae, syn. Asteraceae, subtribe Asteroideae) and their structures have been elucidated on the basis of spectroscopic analysis, as well as chemical and enzymatic methods.

Published
1996

35. Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

Author

Wat, M. J., primary, Enciso, V. B., additional, Wiszniewski, W., additional, Resnick, T., additional, Bader, P., additional, Roeder, E. R., additional, Freedenberg, D., additional, Brown, C., additional, Stankiewicz, P., additional, Cheung, S.-W., additional, and Scott, D. A., additional

Published
2010
Full Text
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42. Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Author

Solomon, B. D., primary, Lacbawan, F., additional, Mercier, S., additional, Clegg, N. J., additional, Delgado, M. R., additional, Rosenbaum, K., additional, Dubourg, C., additional, David, V., additional, Olney, A. H., additional, Wehner, L.-E., additional, Hehr, U., additional, Bale, S., additional, Paulussen, A., additional, Smeets, H. J., additional, Hardisty, E., additional, Tylki-Szymanska, A., additional, Pronicka, E., additional, Clemens, M., additional, McPherson, E., additional, Hennekam, R. C. M., additional, Hahn, J., additional, Stashinko, E., additional, Levey, E., additional, Wieczorek, D., additional, Roeder, E., additional, Schell-Apacik, C. C., additional, Booth, C. W., additional, Thomas, R. L., additional, Kenwrick, S., additional, Cummings, D. A. T., additional, Bous, S. M., additional, Keaton, A., additional, Balog, J. Z., additional, Hadley, D., additional, Zhou, N., additional, Long, R., additional, Velez, J. I., additional, Pineda-Alvarez, D. E., additional, Odent, S., additional, Roessler, E., additional, and Muenke, M., additional

Published
2009
Full Text
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43. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Author

Shinawi, M., primary, Liu, P., additional, Kang, S. H. L., additional, Shen, J., additional, Belmont, J. W., additional, Scott, D. A., additional, Probst, F. J., additional, Craigen, W. J., additional, Graham, B. H., additional, Pursley, A., additional, Clark, G., additional, Lee, J., additional, Proud, M., additional, Stocco, A., additional, Rodriguez, D. L., additional, Kozel, B. A., additional, Sparagana, S., additional, Roeder, E. R., additional, McGrew, S. G., additional, Kurczynski, T. W., additional, Allison, L. J., additional, Amato, S., additional, Savage, S., additional, Patel, A., additional, Stankiewicz, P., additional, Beaudet, A. L., additional, Cheung, S. W., additional, and Lupski, J. R., additional

Published
2009
Full Text
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44. New brazing alloy eliminates metal-stress cracking

Author

Huschler, E., Jr and Roeder, E. R

Subjects
Materials
Abstract

Silver 15 zinc brazing alloy avoids the liquid- metal stress cracking of base metals when applied to 347, 316, and 410 stainless steels and certain other alloys.

Published
1965

47. Bedienung oder Selbstbedienung?

Author

Roeder, E. and Roeder, E.

Abstract

Arbeidsanalyse en kostprijsberekening van verkoopmethoden van potplanten en snijbloemen

Published
1995

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