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The protein encoded by MKS1 localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. 再加上，我们可以发MKS1 蛋白 (3)和数多这个蛋白质的别的产品。
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Human Polyclonal MKS1 Primary Antibody for 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 (显示 DNAH11 抗体)(avc)(4) did not disrupt SHF (显示 SHF 抗体) Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF (显示 SHF 抗体) 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 (显示 B9D1 抗体), 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 (显示 TMEM67 抗体) interact and are required for primary cilium formation.
Study concluded that MKS1 and MKS3 (显示 TMEM67 抗体) account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 but rare in MKS3 (显示 TMEM67 抗体); cases with no, or milder, CNS phenotypes were only found in MKS3 (显示 TMEM67 抗体).
genotyping of MKS1 & MKS3 (显示 TMEM67 抗体) genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 (显示 TMEM67 抗体) 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 (显示 MKKS 抗体) 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 (显示 SHH 抗体) 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 (显示 MKKS 抗体).
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