NEK1 mutations cause short-rib polydactyly syndrome type majewski
about
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisThe spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesisCombined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansSpecialized Cilia in Mammalian Sensory SystemsCilia/Ift protein and motor -related bone diseases and mouse modelsA NIMA-related kinase, CNK4, regulates ciliary stability and length.LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceCiliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Advances in Skeletal Dysplasia GeneticsNEK1 variants confer susceptibility to amyotrophic lateral sclerosisExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeShort-rib polydactyly and Jeune syndromes are caused by mutations in WDR60IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromeAnalysis of a cAMP regulated coactivator family reveals an alternative phosphorylation motif for AMPK family members.The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes."Stop Ne(c)king around": How interactomics contributes to functionally characterize Nek family kinasesMurine Models of Polycystic Kidney Disease.The master cell cycle regulator APC-Cdc20 regulates ciliary length and disassembly of the primary cilium.Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)Review of literature: genes related to postaxial polydactyly.Stages of ciliogenesis and regulation of ciliary lengthEducational paper: ciliopathies.The ciliopathies: a transitional model into systems biology of human genetic disease.The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry.Nek1 kinase associates with ATR-ATRIP and primes ATR for efficient DNA damage signaling.Nek1 phosphorylates Von Hippel-Lindau tumor suppressor to promote its proteasomal degradation and ciliary destabilization.Current insights into renal ciliopathies: what can genetics teach us?Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionWD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in ciliaDigenic inheritance in medical geneticsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.Primary cilia and kidney injury: current research status and future perspectivesDestabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.Nek1 interacts with Ku80 to assist chromatin loading of replication factors and S-phase progression.
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P2860
NEK1 mutations cause short-rib polydactyly syndrome type majewski
description
2011 nî lūn-bûn
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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2011 թվականի հունվարին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
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2011年論文
@zh-mo
2011年論文
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2011年论文
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name
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@ast
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@en
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@en-gb
NEK1 mutations cause short-rib polydactyly syndrome type majewski
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type
label
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@ast
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@en
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@en-gb
NEK1 mutations cause short-rib polydactyly syndrome type majewski
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prefLabel
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@ast
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@en
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@en-gb
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@nl
P2093
P2860
P50
P3181
P1476
NEK1 mutations cause short-rib polydactyly syndrome type majewski
@en
P2093
Andreas Giessl
Arno Dimmler
Diana Zahnleiter
Ernst Beinder
Hartmut Stöss
Johann H Brandstätter
Kristin Kessler
Nadja Schröder-Kress
Rami Abou Jamra
Sigrun von der Haar
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.12.004
P407
P577
2011-01-07T00:00:00Z