A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus
about
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansGene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelThe genetic landscape and clinical implications of vertebral anomalies in VACTERL associationThe Roles of Hedgehog Signaling in Upper Lip FormationCilia/Ift protein and motor -related bone diseases and mouse modelsThe IFT-A complex regulates Shh signaling through cilia structure and membrane protein traffickingMutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathiesDevelopment of an automated imaging pipeline for the analysis of the zebrafish larval kidneyIntraflagellar transport protein IFT20 is essential for male fertility and spermiogenesis in miceComplex genetics and the etiology of human congenital heart disease.Ciliary transport regulates PDGF-AA/αα signaling via elevated mammalian target of rapamycin signaling and diminished PP2A activity.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Deletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation.Stages of ciliogenesis and regulation of ciliary lengthGenome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signalingCiliary IFT80 balances canonical versus non-canonical hedgehog signalling for osteoblast differentiationCurrent insights into renal ciliopathies: what can genetics teach us?Sonic Hedgehog Signaling and VACTERL Association.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.The Dorsal Mesenchymal Protrusion and the Pathogenesis of Atrioventricular Septal Defects.A role for primary cilia in aortic valve development and disease.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Genes and molecular pathways underpinning ciliopathies.Cytoplasmic Cl- couples membrane remodeling to epithelial morphogenesis.The small GTPase RSG1 controls a final step in primary cilia initiation.Group II metabotropic glutamate receptor interactions with NHERF scaffold proteins: Implications for receptor localization in brain.Ift172 conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defects.Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.Syringomyelia in VACTERL-H association: a new neurological feature in an adult patient.Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.
P2860
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P2860
A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus
description
2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2011
@ast
im Oktober 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2011/10/01)
@sk
vědecký článek publikovaný v roce 2011
@cs
wetenschappelijk artikel (gepubliceerd op 2011/10/01)
@nl
наукова стаття, опублікована в жовтні 2011
@uk
مقالة علمية (نشرت في أكتوبر 2011)
@ar
name
A novel murine allele of Intra ...... ke features with hydrocephalus
@ast
A novel murine allele of Intra ...... ke features with hydrocephalus
@en
A novel murine allele of Intra ...... ke features with hydrocephalus
@nl
type
label
A novel murine allele of Intra ...... ke features with hydrocephalus
@ast
A novel murine allele of Intra ...... ke features with hydrocephalus
@en
A novel murine allele of Intra ...... ke features with hydrocephalus
@nl
prefLabel
A novel murine allele of Intra ...... ke features with hydrocephalus
@ast
A novel murine allele of Intra ...... ke features with hydrocephalus
@en
A novel murine allele of Intra ...... ke features with hydrocephalus
@nl
P2093
P2860
P921
P3181
P356
P1476
A novel murine allele of Intra ...... ke features with hydrocephalus
@en
P2093
Andrew D Hoffmann
Ivan P Moskowitz
Joshua D Bosman
Joshua M Friedland-Little
Mike A Peterson
Polloneal Jymmiel R Ocbina
Steven Y Cheng
P2860
P304
P3181
P356
10.1093/HMG/DDR241
P577
2011-06-08T00:00:00Z