Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
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A complex of BBS1 and NPHP7 is required for cilia motility in zebrafishCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeLZTFL1 suppresses gastric cancer cell migration and invasion through regulating nuclear translocation of β-cateninBBS mutations modify phenotypic expression of CEP290-related ciliopathiesThe centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSomeBardet-Biedl SyndromeAlström syndrome: current perspectivesThe role of primary cilia in the development and disease of the retinaMolecular views of Arf-like small GTPases in cilia and ciliopathiesUpdate on the genetics of bardet-biedl syndromeCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesThe roles of evolutionarily conserved functional modules in cilia-related trafficking.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromePharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection abilityIn vivo modeling of the morbid human genome using Danio rerioLZTFL1 Upregulated by All-Trans Retinoic Acid during CD4+ T Cell Activation Enhances IL-5 Production.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF.Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl SyndromePrecision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeCombining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome.Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeMutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Functional modelling of a novel mutation in BBS5.Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)Bardet-Biedl syndrome: Is it only cilia dysfunction?Genetic basis of human left-right asymmetry disorders.Genetics of human Bardet-Biedl syndrome, an updates.Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.Bardet-Biedl syndrome 3 regulates the development of cranial base midline structuresThe cilium: a cellular antenna with an influence on obesity risk.Primary Cilia and Coordination of Receptor Tyrosine Kinase (RTK) and Transforming Growth Factor β (TGF-β) Signaling.Ciliopathies.
P2860
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P2860
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Exome sequencing identifies mu ...... s and insertional polydactyly.
@en
Exome sequencing identifies mu ...... s and insertional polydactyly.
@nl
type
label
Exome sequencing identifies mu ...... s and insertional polydactyly.
@en
Exome sequencing identifies mu ...... s and insertional polydactyly.
@nl
prefLabel
Exome sequencing identifies mu ...... s and insertional polydactyly.
@en
Exome sequencing identifies mu ...... s and insertional polydactyly.
@nl
P2093
P1476
Exome sequencing identifies mu ...... s and insertional polydactyly.
@en
P2093
Aurélie Claussmann
Catherine Barrey
Charlie De Melo
Corinne Stoetzel
Elise Schaefer
Eric Souied
Fanny Stutzmann
Hélène Dollfus
Marion Gérard
Sophie Hellé
P304
P356
10.1136/JMEDGENET-2012-100737
P407
P577
2012-04-17T00:00:00Z