نتایج جستجو برای: schimke immuno osseous dysplasia

تعداد نتایج: 43347  

Journal: :Human molecular genetics 2012
Alireza Baradaran-Heravi Kyoung Sang Cho Bas Tolhuis Mrinmoy Sanyal Olena Morozova Marie Morimoto Leah I Elizondo Darren Bridgewater Joanna Lubieniecka Kimberly Beirnes Clara Myung Danny Leung Hok Khim Fam Kunho Choi Yan Huang Kira Y Dionis Jonathan Zonana Kory Keller Peter Stenzel Christy Mayfield Thomas Lücke Arend Bokenkamp Marco A Marra Maarten van Lohuizen David B Lewis Chad Shaw Cornelius F Boerkoel

Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila and mouse models, we show that the proteins encoded by SMARCAL1 orthologs localize to transcriptionall...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2010
Zhihui Yue Shiyi Xiong Liangzhong Sun Weijun Huang Ying Mo Liuyi Huang Xiaoyun Jiang Shumei Chen Bin Hu Yiming Wang

BACKGROUND Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive pleiotropic disease caused by mutations in the SMARCAL1 gene. To date there have been no data from the Chinese population. Here, we report the first SIOD case in the Chinese population. No case with gross carpal bone age retardation has been reported previously. METHODS The index patient was diagnosed by clinical...

2012
Marie Morimoto Zhongxin Yu Peter Stenzel J Marietta Clewing Behzad Najafian Christy Mayfield Glenda Hendson Justin G Weinkauf Andrew K Gormley David M Parham Umakumaran Ponniah Jean-Luc André Yumi Asakura Mitra Basiratnia Radovan Bogdanović Arend Bokenkamp Dominique Bonneau Anna Buck Joel Charrow Pierre Cochat Isabel Cordeiro Georges Deschenes M Semin Fenkçi Pierre Frange Stefan Fründ Helen Fryssira Encarna Guillen-Navarro Kory Keller Salman Kirmani Christine Kobelka Petra Lamfers Elena Levtchenko David B Lewis Laura Massella D Ross McLeod David V Milford François Nobili Jorge M Saraiva C Nur Semerci Lawrence Shoemaker Nataša Stajić Anja Stein Doris Taha Dorothea Wand Jonathan Zonana Thomas Lücke Cornelius F Boerkoel

BACKGROUND Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown. METHODS We reviewed th...

2016
Marie Morimoto Clara Myung Kimberly Beirnes Kunho Choi Yumi Asakura Arend Bokenkamp Dominique Bonneau Milena Brugnara Joel Charrow Estelle Colin Amira Davis Georges Deschenes Mattia Gentile Mario Giordano Andrew K. Gormley Rajeshree Govender Mark Joseph Kory Keller Evelyne Lerut Elena Levtchenko Laura Massella Christy Mayfield Behzad Najafian David Parham Jurgen Spranger Peter Stenzel Uluc Yis Zhongxin Yu Jonathan Zonana Glenda Hendson Cornelius F. Boerkoel

BACKGROUND Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmenta...

2017
Beata S Lipska-Ziętkiewicz Jutta Gellermann Olivia Boyer Olivier Gribouval Szymon Ziętkiewicz Jameela A Kari Mohamed A Shalaby Fatih Ozaltin Jiri Dusek Anette Melk Aysun K Bayazit Laura Massella Lidia Hyla-Klekot Sandra Habbig Astrid Godron Maria Szczepańska Beata Bieniaś Dorota Drożdż Rasha Odeh Wioletta Jarmużek Katarzyna Zachwieja Agnes Trautmann Corinne Antignac Franz Schaefer

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-p...

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