Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome - Test2 - elhamkhani - TriplyDB

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence The dynamic cilium in human diseases BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3 Homozygosity 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 syndrome Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation Defining the role of essential genes in human disease The role of primary cilia in the development and disease of the retina Cilia in vertebrate development and disease Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes Iqcg is essential for sperm flagellum formation in mice Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform Mouse 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 models A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia Disruption 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 infertility Gene 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 syndrome Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity Alms1-disrupted mice recapitulate human Alström syndrome.Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting Cartilage 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 model Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.Nephronophthisis: disease mechanisms of a ciliopathy.

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Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

http://www.wikidata.org/entity/Q28509916

description

2005 թուականի Մայիսին հրատարակուած գիտական յօդուած

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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

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P1433

Human Molecular Genetics

P1476

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

@en

P2093

Baoli Yang

http://www.w3.org/2001/XMLSchema#string

Charles Searby

http://www.w3.org/2001/XMLSchema#string

Darryl Y Nishimura

http://www.w3.org/2001/XMLSchema#string

Jun Wei

http://www.w3.org/2001/XMLSchema#string

Marwan K Tayeh

http://www.w3.org/2001/XMLSchema#string

Michael Andrews

http://www.w3.org/2001/XMLSchema#string

Roger E Davis

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P2860

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1

Leptin and the regulation of body weight in mammals

Leptin levels in human and rodent: measurement of plasma leptin and ob RNA in obese and weight-reduced subjects

Obesity-associated hypertension: new insights into mechanisms.

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1109-1118

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scholarly article

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10.1093/HMG/DDI123

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9

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14

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Curt D. Sigmund

Robert F. Mullins

Val C Sheffield

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2005-03-16T00:00:00Z

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7962935

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15772095

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