The ciliopathies: a transitional model into systems biology of human genetic disease.
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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulationSmelling the roses and seeing the light: gene therapy for ciliopathiesMolecular views of Arf-like small GTPases in cilia and ciliopathiesDYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsNek2 activation of Kif24 ensures cilium disassembly during the cell cycleHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressLRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertilityPrimary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound DeafnessMyb promotes centriole amplification and later steps of the multiciliogenesis program.The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Insights into the structure and function of ciliary and flagellar doublet microtubules: tektins, Ca2+-binding proteins, and stable protofilamentsMutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.Understanding disease pleiotropy: From puzzle to solution.Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafishThe Ca2+-activated Cl- channel ANO1/TMEM16A regulates primary ciliogenesisSox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesisPartial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.A network-based approach to dissect the cilia/centrosome complex interactome.Interpreting human genetic variation with in vivo zebrafish assays.TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.The essential roles of transition fibers in the context of cilia.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyFunction-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signalingGenetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes.Mutations in TMEM231 cause Meckel-Gruber syndrome.Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome.A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Protein sorting, targeting and trafficking in photoreceptor cellsCopy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeWhole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneDrosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults.The continuum of causality in human genetic disorders.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
P2860
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P2860
The ciliopathies: a transitional model into systems biology of human genetic disease.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
The ciliopathies: a transitional model into systems biology of human genetic disease.
@ast
The ciliopathies: a transitional model into systems biology of human genetic disease.
@en
type
label
The ciliopathies: a transitional model into systems biology of human genetic disease.
@ast
The ciliopathies: a transitional model into systems biology of human genetic disease.
@en
prefLabel
The ciliopathies: a transitional model into systems biology of human genetic disease.
@ast
The ciliopathies: a transitional model into systems biology of human genetic disease.
@en
P2860
P1476
The ciliopathies: a transitional model into systems biology of human genetic disease.
@en
P2093
Erica E Davis
P2860
P304
P356
10.1016/J.GDE.2012.04.006
P577
2012-05-23T00:00:00Z