NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. - Wikidata - awgldk - TriplyDB

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

http://www.wikidata.org/entity/Q53174375

about

Cilia/Ift protein and motor -related bone diseases and mouse models Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement Genome-wide association study of ancestry-specific TB risk in the South African Coloured population Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish NEK1 kinase domain structure and its dynamic protein interactome after exposure to Cisplatin.Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton A review of hedgehog signaling in cranial bone development Ciliary disorder of the skeleton.Microtubule Motors Drive Hedgehog Signaling in Primary Cilia.The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase.Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Autopsy observations in lethal short-rib polydactyly syndromes.Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.

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NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

http://www.wikidata.org/entity/Q53174375

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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name

NEK1 and DYNC2H1 are both invo ...... ut not in Beemer Langer cases.

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NEK1 and DYNC2H1 are both invo ...... ut not in Beemer Langer cases.

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type

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NEK1 and DYNC2H1 are both invo ...... ut not in Beemer Langer cases.

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NEK1 and DYNC2H1 are both invo ...... ut not in Beemer Langer cases.

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prefLabel

NEK1 and DYNC2H1 are both invo ...... ut not in Beemer Langer cases.

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NEK1 and DYNC2H1 are both invo ...... ut not in Beemer Langer cases.

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JMEDGENET-2011-100717

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Journal of Medical Genetics

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NEK1 and DYNC2H1 are both invo ...... ut not in Beemer Langer cases.

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Adeline Couvé

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Anne-Lise Delezoide

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Annie Levy-Mozziconacci

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Denise P Cavalcanti

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Diana Johnson

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Dominique Martin-Coignard

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Felicity A Collins

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Geneviève Baujat

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Gioacchino Scarano

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Jacqueline Aziza

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227-233

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scholarly article

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10.1136/JMEDGENET-2011-100717

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4

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49

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Valerie Cormier-Daire

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2012-04-01T00:00:00Z

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22499340

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