A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia - Wikidata - wikimedia - TriplyDB

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

http://www.wikidata.org/entity/Q24300196

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The dynamic cilium in human diseases Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation HEATR2 plays a conserved role in assembly of the ciliary motile apparatus Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia MNS1 is essential for spermiogenesis and motile ciliary functions in mice ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm DYX1C1 is required for axonemal dynein assembly and ciliary motility Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia Nme protein family evolutionary history, a vertebrate perspective Genes associated with Alzheimer's disease: an overview and current status Genetics and biology of primary ciliary dyskinesia Late-Onset Alzheimer's Disease Genes and the Potentially Implicated Pathways CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects Novel thioredoxin-like proteins are components of a protein complex coating the cortical microtubules of Toxoplasma gondii Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility.The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia The determination factors of left-right asymmetry disorders- a short review.Nme gene family evolutionary history reveals pre-metazoan origins and high conservation between humans and the sea anemone, Nematostella vectensis The advantage of channeling nucleotides for very processive functions Cildb: a knowledgebase for centrosomes and cilia.Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Association between NME8 locus polymorphism and cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer's disease.Recent advances in primary ciliary dyskinesia genetics.Diagnosis and management of primary ciliary dyskinesia.

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A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

http://www.wikidata.org/entity/Q24300196

description

2007 nî lūn-bûn

@nan

2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի փետրվարին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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A common variant in combinatio ...... ses primary ciliary dyskinesia

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Anne-Marie Bridoux

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Anne-Marie Vojtek

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Bénédicte Duriez

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Denise Escalier

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Elisabeth Marcos

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Estelle Escudier

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Isabelle Rayet

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Jean-François Bercher

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Philippe Duquesnoy

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Serge Amselem

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P2860

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Cloning and developmental analysis of murid spermatid-specific thioredoxin-2 (SPTRX-2), a novel sperm fibrous sheath protein and autoantigen

The mammalian testis-specific thioredoxin system

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

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3336-41

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9

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104

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17360648

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cilium morphogenesis

NME/NM23 family member 8

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1805560

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