Novel alternative splicing of human faciogenital dysplasia 1 gene
Author:
Publisher
Wiley
Subject
Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1741-4520.2004.00026.x/fullpdf
Reference17 articles.
1. A familial syndrome of short stature associated with facial dysplasia and genital anomalies
2. Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane
3. Phosphoinositide Binding Domains
4. Skeletal-specific expression ofFgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome)
5. Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape
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1. A roadmap for delivering a human musculoskeletal cell atlas;Nature Reviews Rheumatology;2023-10-05
2. Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease;Physiological Genomics;2016-07-01
3. Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane;Journal of Cellular and Molecular Medicine;2008-04-10
4. Neurobehavioral disorders in patients with Aarskog–Scott syndrome affected by novelFGD1 mutations;American Journal of Medical Genetics Part A;2006
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