Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus
about
Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic miceCiliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington diseaseMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.MNS1 is essential for spermiogenesis and motile ciliary functions in miceLoss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesiaPrimary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impactGenetic loci for ventricular dilatation in the LEW/Jms rat with fetal-onset hydrocephalus are influenced by gender and genetic backgroundCilia in vertebrate development and diseasePolyglutamine neurodegeneration: expanded glutamines enhance native functionsCiliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapyThe PDZ Protein Na+/H+ Exchanger Regulatory Factor-1 (NHERF1) Regulates Planar Cell Polarity and Motile Cilia OrganizationMouse models of ciliopathies: the state of the art.SCO-ping out the mechanisms underlying the etiology of hydrocephalusIncreased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in miceSitus inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- miceCongenital hydrocephalus in genetically engineered miceTubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetryMouse model of heterotaxy with single ventricle spectrum of cardiac anomaliesMutations in Hydin impair ciliary motility in miceSperm-associated antigen-17 gene is essential for motile cilia function and neonatal survivalTubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in miceInactivation of Chibby affects function of motile airway ciliaMcph1-deficient mice reveal a role for MCPH1 in otitis mediaMutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.Wnt3a links left-right determination with segmentation and anteroposterior axis elongation.Mice deficient in the axonemal protein Tektin-t exhibit male infertility and immotile-cilium syndrome due to impaired inner arm dynein functionThe transcription factor RFX3 directs nodal cilium development and left-right asymmetry specificationLoss of the serine/threonine kinase fused results in postnatal growth defects and lethality due to progressive hydrocephalusNovel roles for the radial spoke head protein 9 in neural and neurosensory cilia.Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway.Cilia organize ependymal planar polarity.Noninvasive real-time measurement of nasal mucociliary clearance in mice by pinhole gamma scintigraphy.Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitisRFX2 is essential in the ciliated organ of asymmetry and an RFX2 transgene identifies a population of ciliated cells sufficient for fluid flowCiliogenesis and cerebrospinal fluid flow in the developing Xenopus brain are regulated by foxj1Intracerebroventricular antisense knockdown of G alpha i2 results in ciliary stasis and ventricular dilatation in the rat.The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules.A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
P2860
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P2860
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus
description
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մարտին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im März 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2002/03/15)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd op 2002/03/15)
@nl
наукова стаття, опублікована в березні 2002
@uk
مقالة علمية (نشرت في 15-3-2002)
@ar
name
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@ast
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@en
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@nl
type
label
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@ast
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@en
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@nl
prefLabel
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@ast
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@en
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@nl
P2093
P921
P3181
P356
P1476
Loss of function of axonemal d ...... y dyskinesia and hydrocephalus
@en
P2093
Inés Ibañez-Tallon
Nathaniel Heintz
Svetlana Gorokhova
P304
P3181
P356
10.1093/HMG/11.6.715
P577
2002-03-15T00:00:00Z