Use your antibodies-online credentials, if available.
Keine Produkte auf Ihrer Vergleichsliste.
Ihr Warenkorb ist leer.
The protein encoded by MKS1 localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Zusätzlich bieten wir Ihnen MKS1 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
Showing 10 out of 17 products:
Human Polyclonal MKS1 Primary Antibody für IHC, IHC (p) - ABIN4334845
Mahuzier, Gaudé, Grampa, Anselme, Silbermann, Leroux-Berger, Delacour, Ezan, Montcouquiol, Saunier, Schneider-Maunoury, Vesque: Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. in The Journal of cell biology 2012
we have described a pathogenic variant in the MKS1 resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the MKS1.
Dnah11 (zeige DNAH11 Antikörper)(avc)(4) did not disrupt SHF (zeige SHF Antikörper) Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF (zeige SHF Antikörper) Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans
MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content.
describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1 (zeige B9D1 Antikörper), two genes previously implicated only in Meckel syndrome
identification of a gene, MKS1,(Meckel syndrome) mutated in MKS families linked to 17q.
The Meckel-Gruber Syndrome proteins MKS1 and meckelin (zeige TMEM67 Antikörper) interact and are required for primary cilium formation.
Study concluded that MKS1 and MKS3 (zeige TMEM67 Antikörper) account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 but rare in MKS3 (zeige TMEM67 Antikörper); cases with no, or milder, CNS phenotypes were only found in MKS3 (zeige TMEM67 Antikörper).
genotyping of MKS1 & MKS3 (zeige TMEM67 Antikörper) genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 (zeige TMEM67 Antikörper) genes are each responsible for about 7% of MKS cases with various mutations in different populations
Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest splicing defects are a crucial mutational mechanism in MKS1, and further genetic heterogeneity for MKS.
Mutations in MKS1 is associated with Bardet-Biedl syndrome
demonstrated that the MKS (zeige MKKS Antikörper) transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium
Centriole localization of Mks1 is required for ciliogenesis of motile and non-motile cilia, but not for centriole assembly.
Mks1 is required for ciliogenesis and shh (zeige SHH Antikörper) signaling in mouse model of human meckel syndrome.
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS (zeige MKKS Antikörper).
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene.
FABB proteome-like protein
, Meckel syndrome type 1 protein
, POC12 centriolar protein homolog
, Meckel syndrome type 1 protein homolog