Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
about
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescenceThe dynamic cilium in human diseasesBBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblyBardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeBBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypesCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisIntrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSomeRequirement of Bardet-Biedl syndrome proteins for leptin receptor signalingLoss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaCiliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)The blind leading the obese: the molecular pathophysiology of a human obesity syndromeDefects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndromeTransient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiationDefining the role of essential genes in human diseaseThe role of primary cilia in the development and disease of the retinaCilia in vertebrate development and diseaseAcute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypesIqcg is essential for sperm flagellum formation in miceIdentification and functional analysis of the vision-specific BBS3 (ARL6) long isoformMouse models of ciliopathies: the state of the art.The BBSome controls IFT assembly and turnaround in cilia.CP110 and its network of partners coordinately regulate cilia assembly.Biology and therapy of inherited retinal degenerative disease: insights from mouse modelsA novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndromeDisruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesBardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary ciliaDisruption of Ttll5/stamp gene (tubulin tyrosine ligase-like protein 5/SRC-1 and TIF2-associated modulatory protein gene) in male mice causes sperm malformation and infertilityGene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndromeOverexpression of RPGR leads to male infertility in mice due to defects in flagellar assemblyA knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityAlms1-disrupted mice recapitulate human Alström syndrome.Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection abilityLoss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targetingCartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse modelContrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.Nephronophthisis: disease mechanisms of a ciliopathy.
P2860
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P2860
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
description
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2005
@ast
im Mai 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2005/05/01)
@sk
vědecký článek publikovaný v roce 2005
@cs
wetenschappelijk artikel (gepubliceerd op 2005/05/01)
@nl
наукова стаття, опублікована в травні 2005
@uk
مقالة علمية (نشرت في مايو 2005)
@ar
name
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@ast
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@en
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@nl
type
label
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@ast
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@en
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@nl
prefLabel
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@ast
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@en
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@nl
P2093
P2860
P50
P356
P1476
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
@en
P2093
Baoli Yang
Charles Searby
Darryl Y Nishimura
Marwan K Tayeh
Michael Andrews
Roger E Davis
P2860
P304
P356
10.1093/HMG/DDI123
P577
2005-03-16T00:00:00Z