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SHROOM4 gene

Known as: KIAA1202, SHROOM FAMILY MEMBER 4, SHROOM4 
 
National Institutes of Health

Papers overview

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Highly Cited
2016
Highly Cited
2016
Identification of novel genetic causes of Rett syndrome-like phenotypes.
BACKGROUND The aim of this work was to identify new genetic causes of Rett-like phenotypes using array comparative genomic… Expand
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2016
2016
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
We report 13 new individuals with duplications in Xp11.22-p11.23. The index family has one male and two female members in three… Expand
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2015
2015
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease
BackgroundHere we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes… Expand
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Highly Cited
2014
Highly Cited
2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
BACKGROUND Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been… Expand
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2010
2010
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
X-linked mental retardation (XLMR) is a common, clinically complex and genetically heterogeneous disease arising from many… Expand
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2007
2007
Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization.
All animal cells utilize a specialized set of cytoskeletal proteins to determine their overall shape and the organization of… Expand
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2006
2006
Differential actin-dependent localization modulates the evolutionarily conserved activity of Shroom family proteins.
Shroom is an actin-associated determinant of cell morphology that is required for neural tube closure in both mice and frogs… Expand
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2006
2006
A new standard nomenclature for proteins related to Apx and Shroom
Shroom is a recently-described regulator of cell shape changes in the developing nervous system. This protein is a member of a… Expand
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2006
2006
Search for genes involved in human cognition : molecular characterisation of two novel genes, FBXO25 and KIAA1202, disrupted by a translocation in a mentally retarded patient
Title Page Acknowledgement Table of Contents Index of Figures Index of Tables Acronymes & Abbreviations Summary… Expand
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2005
2005
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
The extensive heterogeneity underlying the genetic component of mental retardation (MR) is the main cause for our limited… Expand
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