GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease
نویسندگان
چکیده
منابع مشابه
GJC2 missense mutations cause human lymphedema.
Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studies comparing lymphatic and blood endothelial cells identified expression of se...
متن کاملHuman venous valve disease caused by mutations in FOXC2 and GJC2
Venous valves (VVs) prevent venous hypertension and ulceration. We report that FOXC2 and GJC2 mutations are associated with reduced VV number and length. In mice, early VV formation is marked by elongation and reorientation ("organization") of Prox1hi endothelial cells by postnatal day 0. The expression of the transcription factors Foxc2 and Nfatc1 and the gap junction proteins Gjc2, Gja1, and ...
متن کاملBiochemical basis of human disease-causing actin mutations
Actin isoform specific mutations have been identified as causes for various human diseases. These include twelve missense mutations in γ-nonmuscle actin leading to early onset autosomal dominate nonsyndromic hearing loss and twenty two missense mutations in α-smooth muscle actin leading to thoracic aortic aneurysms and dissections (TAAD). The molecular mechanisms leading to these human patholog...
متن کاملThe structural context of disease-causing mutations in gap junctions.
Gap junctions form intercellular channels that mediate metabolic and electrical signaling between neighboring cells in a tissue. Lack of an atomic resolution structure of the gap junction has made it difficult to identify interactions that stabilize its transmembrane domain. Using a recently computed model of this domain, which specifies the locations of each amino acid, we postulated the exist...
متن کاملHuman Disease-Causing Mutations Affecting RNA Splicing and NMD
Submit Manuscript | http://medcraveonline.com Abbreviations: NMD: Nonsense-Mediated mRNA Decay; ISE: Intronic Splicing Enhancer; ESE: Exonic Splicing Enhancer; ISS: Intronic Splicing Silencer; ESS: Exonic Splicing Silencer; PTC: Premature Termination Codon; ASC: Adenosquamous Carcinoma; NAS: Nonsense-associated Altered Splicing; NASRE: NonsenseAssociated Altered Splicing of a Remote Exon; ASO: ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2014
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2013.12.001