Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
about
The dynamic cilium in human diseasesA complex of BBS1 and NPHP7 is required for cilia motility in zebrafishIdentification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleIdentification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mappingJumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic EpidemiologyBBS6, 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 phenotypesTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneBardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 proteinCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyBBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypesNephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargosDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationMutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsCEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary ciliumBBS mutations modify phenotypic expression of CEP290-related ciliopathiesMeckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein CCiliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Pitchfork regulates primary cilia disassembly and left-right asymmetryCP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary diseaseNephronophthisisA splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesGene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelThe role of primary cilia in neuronal functionCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese familyCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationBardet-Biedl SyndromeZebrafish: a vertebrate tool for studying basal body biogenesis, structure, and functionProgress and prospects of next-generation sequencing testing for inherited retinal dystrophyThe role of primary cilia in the development and disease of the retinaMutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literatureUpdate on the genetics of bardet-biedl syndromeConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome
P2860
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P2860
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Hypomorphic mutations in syndr ...... ted with Bardet-Biedl syndrome
@ast
Hypomorphic mutations in syndr ...... ted with Bardet-Biedl syndrome
@en
type
label
Hypomorphic mutations in syndr ...... ted with Bardet-Biedl syndrome
@ast
Hypomorphic mutations in syndr ...... ted with Bardet-Biedl syndrome
@en
prefLabel
Hypomorphic mutations in syndr ...... ted with Bardet-Biedl syndrome
@ast
Hypomorphic mutations in syndr ...... ted with Bardet-Biedl syndrome
@en
P2093
P3181
P356
P1433
P1476
Hypomorphic mutations in syndr ...... ted with Bardet-Biedl syndrome
@en
P2093
Anna Diaz-Font
Carmen C Leitch
Corinne Stoetzel
Erica E Davis
Eyal Banin
Helene Dollfus
Majid Alfadhel
Norann A Zaghloul
Philip L Beales
Richard Alan Lewis
P2888
P304
P3181
P356
10.1038/NG.97
P407
P577
2008-03-09T00:00:00Z
P5875
P6179
1038326482