TheRBMXgene as a candidate for the Shashi X-linked intellectual disability syndrome-Reference-Cited by-同舟云学术

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TheRBMXgene as a candidate for the Shashi X-linked intellectual disability syndrome

Published:2014-12-05 Issue:4 Volume:88 Page:386-390
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Shashi V.¹,Xie P.²,Schoch K.¹,Goldstein D.B.²,Howard T.D.³,Berry M.N.³,Schwartz C.E.⁴,Cronin K.²,Sliwa S.²,Allen A.⁵,Need A.C.⁶

Affiliation:

1. Department of Pediatrics, Division of Medical Genetics; Duke University Medical Sciences; Durham NC USA

2. Center for Human Genome Variation; Duke University School of Medicine; Durham NC USA

3. Department of Pediatrics; Wake Forest University Health Sciences; Winston-Salem NC USA

4. Greenwood Genetic Center; Greenwood SC USA

5. Department of Biostatistics; Duke University Health Sciences; Durham NC USA

6. Division of Brain Sciences; Imperial College; London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. The genetic landscape of intellectual disability arising from chromosome X;Gecz;Trends Genet,2009

2. Fragile X and X-linked intellectual disability: four decades of discovery;Lubs;Am J Hum Genet,2012

3. The neurobiology of X-linked intellectual disability;Bassani;Neuroscientist,2013

4. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation;Tarpey;Nat Genet,2009

5. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing;Piton;Am J Hum Genet,2013

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1. Loss‐of‐function variants in RNA binding motif protein X‐linked induce neuronal defects contributing to amyotrophic lateral sclerosis pathogenesis;MedComm;2024-09

2. An anciently diverged family of RNA binding proteins maintain correct splicing of a class of ultra-long exons through cryptic splice site repression;2024-08-13

3. hnRNPs: roles in neurodevelopment and implication for brain disorders;Frontiers in Molecular Neuroscience;2024-07-17

4. Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions;European Journal of Human Genetics;2023-11-29

5. Mechanistic Insights into Alternative Gene Splicing in Oxidative Stress and Tissue Injury;Antioxidants & Redox Signaling;2023-11-23

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