Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans - Test2 - elhamkhani - TriplyDB

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Bardet-Biedl Syndrome Sequence evidence for common ancestry of eukaryotic endomembrane coatomers.Nephronophthisis and related syndromes DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization Nedd9 restrains renal cystogenesis in Pkd1-/- mice Advances in Skeletal Dysplasia Genetics IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Mutations of CEP83 cause infantile nephronophthisis and intellectual disability FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.A protocol for the identification and validation of novel genetic causes of kidney disease Proteomics of Primary Cilia by Proximity Labeling Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.Mutations in human IFT140 cause non-syndromic retinal degeneration IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.De novo mutations in PLXND1 and REV3L cause Möbius syndrome The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels Zebrafish Craniofacial Development: A Window into Early Patterning Canonical and noncanonical intraflagellar transport regulates craniofacial skeletal development.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.MKS1 regulates ciliary INPP5E levels in Joubert syndrome.Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Next-generation sequencing for research and diagnostics in kidney disease.An approach to cystic kidney diseases: the clinician's view.Unmasking the ciliopathies: craniofacial defects and the primary cilium.

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

http://www.wikidata.org/entity/Q24338649

description

2013 nî lūn-bûn

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2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2013 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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J.AJHG.2013.09.012

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American Journal of Human Genetics

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Defects in the IFT-B component ...... r-Saldino syndromes in humans.

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Aideen M McInerney-Leo

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Alexandru Constantinescu

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Andreas Zankl

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Attila J Szabó

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Bernard S Kaplan

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Bertrand Knebelmann

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Beyhan Tuysuz

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Brooke Gardiner

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Chunmei Li

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Dan Doherty

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P2860

A systematic approach to mapping recessive disease genes in individuals from outbred populations

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

The Ciliopathies: An Emerging Class of Human Genetic Disorders

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

NEK1 mutations cause short-rib polydactyly syndrome type majewski

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

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915-25

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5

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93

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Nicholas Katsanis

Friedhelm Hildebrandt

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Matthew A. Brown

Hülya Kayserili

Patrick Nitschké

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2013-11-07T00:00:00Z

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cilium morphogenesis

Intraflagellar transport 172

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