Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
about
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical coresExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingA novel protein LZTFL1 regulates ciliary trafficking of the BBSome and SmoothenedNovel asymmetrically localizing components of human centrosomes identified by complementary proteomics methodsFAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeWhole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6BBS mutations modify phenotypic expression of CEP290-related ciliopathiesOCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeMutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentCEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia baseSHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencingMechanisms of nephronophthisis and related ciliopathiesBardet-Biedl SyndromeThe cilia-regulated proteasome and its role in the development of ciliopathies and cancerZebrafish: a vertebrate tool for studying basal body biogenesis, structure, and functionHuman basal body basicsMolecular Pathways Underlying Projection Neuron Production and Migration during Cerebral Cortical DevelopmentObesity genetics in mouse and human: back and forth, and back againThe role of primary cilia in the development and disease of the retinaMolecular views of Arf-like small GTPases in cilia and ciliopathiesSpectrum of clinical diseases caused by disorders of primary ciliaUpdate on the genetics of bardet-biedl syndromeCSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid FormationMutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegansA transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.New frontiers: discovering cilia-independent functions of cilia proteinsThe Role of RPGR and Its Interacting Proteins in CiliopathiesNephronophthisis and related syndromesPathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesisMutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotypeMutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndromeA simple cell-based assay reveals that diverse neuropsychiatric risk genes converge on primary ciliaSDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotideThe Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content.RNAi screening comes of age: improved techniques and complementary approaches
P2860
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P2860
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին 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
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@ast
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@en
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@en-gb
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@nl
type
label
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@ast
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@en
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@en-gb
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@nl
prefLabel
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@ast
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@en
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@en-gb
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Candidate exome capture identi ...... of a retinal-renal ciliopathy
@en
P2093
Amiya K Ghosh
Carlos A Murga-Zamalloa
Carsten Bergmann
Corinne Stoetzel
Daniela A Brito
David S Williams
Gokul Ramaswami
Hartmut P H Neumann
Heather M McLaughlin
Helene Dollfus
P2860
P2888
P304
P3181
P356
10.1038/NG.662
P407
P50
P577
2010-10-01T00:00:00Z
P5875
P6179
1000840464