A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

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http://www.wikidata.org/entity/Q33645591
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaRetinal dystrophies, genomic applications in diagnosis and prospects for therapyDysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2Insight into the role of Ca2+-binding protein 5 in vesicle exocytosis.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsLack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.Protein phosphatase 2A dephosphorylates CaBP4 and regulates CaBP4 function.Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses.EF hand-mediated Ca- and cGMP-signaling in photoreceptor synaptic terminals.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.Evolution and functional diversity of the Calcium Binding Proteins (CaBPs).¹H, ¹⁵N, and ¹³C chemical shift assignments of murine calcium-binding protein 4.Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.
P2860

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

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http://www.wikidata.org/entity/Q33645591
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2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
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A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
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type
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A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
@ast
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
@en
prefLabel
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
@ast
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
@en
P1433
P1476
P2093
P2860
P304
P31
P478
P50
P577
P698
P921
P932
P1433
P1476
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
@en
P2093
P2860
P304
P31
P478
P50
P577
P698
P921
P932