A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
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The diversity of calcium sensor proteins in the regulation of neuronal functionVoltage-Gated Cav1 Channels in Disorders of Vision and HearingBioinformatic analysis of CaBP/calneuron proteins reveals a family of highly conserved vertebrate Ca2+-binding proteins.A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotypeDysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2Localization and expression of CaBP1/caldendrin in the mouse brain.An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2.Insight into the role of Ca2+-binding protein 5 in vesicle exocytosis.Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4)More than a pore: ion channel signaling complexesA vertex similarity-based framework to discover and rank orphan disease-related genes.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Assessment of night vision problems in patients with congenital stationary night blindnessA novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic SyndromeMutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairmentProtein phosphatase 2A dephosphorylates CaBP4 and regulates CaBP4 function.Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.Homozygosity mapping: one more tool in the clinical geneticist's toolbox.Mouse b-wave mutants.Sense and specificity in neuronal calcium signalling.Decalmodulation of Cav1 channels by CaBPs.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.Evolution and functional diversity of the Calcium Binding Proteins (CaBPs).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.Multimodal imaging in CABP4-related retinopathy.CRISPR-Trap: a clean approach for the generation of gene knockouts and gene replacements in human cells.An extended 15 Hz ERG protocol (1): the contributions of primary and secondary rod pathways and the cone pathway.Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
P2860
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P2860
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
A novel homozygous nonsense mu ...... al cone-rod synaptic disorder.
@en
A novel homozygous nonsense mu ...... al cone-rod synaptic disorder.
@nl
type
label
A novel homozygous nonsense mu ...... al cone-rod synaptic disorder.
@en
A novel homozygous nonsense mu ...... al cone-rod synaptic disorder.
@nl
prefLabel
A novel homozygous nonsense mu ...... al cone-rod synaptic disorder.
@en
A novel homozygous nonsense mu ...... al cone-rod synaptic disorder.
@nl
P2093
P356
P1476
A novel homozygous nonsense mu ...... tal cone-rod synaptic disorder
@en
P2093
Alberta A H J Thiadens
Anneke I den Hollander
Arjan P M de Brouwer
Carel B Hoyng
Frans C C Riemslag
Frans P M Cremers
Karin W Littink
Klaus Rohrschneider
L Ingeborgh van den Born
Maria M van Genderen
P304
P356
10.1167/IOVS.08-2553
P407
P577
2008-12-13T00:00:00Z