Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities - sprookjes - yvandenbroek - TriplyDB

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

http://www.wikidata.org/entity/Q24308816

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The dynamic cilium in human diseases Antibody-based protein profiling of the human chromosome 21 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 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 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke 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 Genetic factors contributing to human primary ciliary dyskinesia and male infertility Mammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypes Genetics and biology of primary ciliary dyskinesia The awesome power of dikaryons for studying flagella and basal bodies in Chlamydomonas reinhardtii CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia Accuracy of diagnostic testing in primary ciliary dyskinesia Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex Transcription Factor RFX2 Is a Key Regulator of Mouse Spermiogenesis Functional characterization of putative cilia genes by high-content analysis Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.Novel roles for the radial spoke head protein 9 in neural and neurosensory cilia.Chlamydomonas mutants display reversible deficiencies in flagellar beating and axonemal assembly.Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images.The structural heterogeneity of radial spokes in cilia and flagella is conserved.Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility.Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.miR-34/449 miRNAs are required for motile ciliogenesis by repressing cp110.FAP206 is a microtubule-docking adapter for ciliary radial spoke 2 and dynein c The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia

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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

http://www.wikidata.org/entity/Q24308816

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2009 nî lūn-bûn

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2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի փետրվարին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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J.AJHG.2009.01.011

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Mutations in radial spoke head ...... icrotubular-pair abnormalities

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Leila Romio

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P2860

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

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

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

The 9 + 2 axoneme anchors multiple inner arm dyneins and a network of kinases and phosphatases that control motility

Radial spoke proteins of Chlamydomonas flagella

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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axoneme assembly

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Radial spoke head component 4A

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2668031

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