Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. - Test2 - elhamkhani - TriplyDB

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

http://www.wikidata.org/entity/Q43235661

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The Chlamydomonas genome reveals the evolution of key animal and plant functions.TCTEX1D4, a novel protein phosphatase 1 interactor: connecting the phosphatase to the microtubule network A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.Cytoplasmic dynein nomenclature.Mutations of photosystem II D1 protein that empower efficient phenotypes of Chlamydomonas reinhardtii under extreme environment in space Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.Discovery analysis of TCGA data reveals association between germline genotype and survival in ovarian cancer patients Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.Whole exome sequencing in females with autism implicates novel and candidate genes.Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease.Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure.Knockout mouse models of sperm flagellum anomalies.Analysis of cytoskeletal and motility proteins in the sea urchin genome assembly.Intact Cell MALDI-TOF MS on Sperm: A Molecular Test For Male Fertility Diagnosis.Molecular organization and force-generating mechanism of dynein.Cilia and Mucociliary Clearance.Newborn Cystic Fibrosis Pigs Have a Blunted Early Response to an Inflammatory Stimulus.Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.Dynein-deficient flagella respond to increased viscosity with contrasting changes in power and recovery strokes.Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.Efficient targeted DNA editing and replacement in Chlamydomonas reinhardtii using Cpf1 ribonucleoproteins and single-stranded DNA.Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.Localization of candidate regions for a novel gene for Kartagener syndrome PKA, PP1, and DC1 phosphorylation mediate alcohol-induced ciliary dysfunction in Chlamydomonas reinhardtii

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P2860

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

http://www.wikidata.org/entity/Q43235661

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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Identification of predicted hu ...... mary ciliary dyskinesia genes.

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Identification of predicted hu ...... mary ciliary dyskinesia genes.

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type

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Identification of predicted hu ...... mary ciliary dyskinesia genes.

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Identification of predicted hu ...... mary ciliary dyskinesia genes.

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prefLabel

Identification of predicted hu ...... mary ciliary dyskinesia genes.

@en

Identification of predicted hu ...... mary ciliary dyskinesia genes.

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Journal of Medical Genetics

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Identification of predicted hu ...... mary ciliary dyskinesia genes.

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B L Walker

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G B Witman

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N Agrin

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P2860

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

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

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

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62-73

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