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anti-Rat (Rattus) MKKS Anticorps:
anti-Human MKKS Anticorps:
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Human Polyclonal MKKS Primary Antibody pour IP, WB - ABIN948666
Rachel, May-Simera, Veleri, Gotoh, Choi, Murga-Zamalloa, McIntyre, Marek, Lopez, Hackett, Zhang, Brooks, den Hollander, Beales, Li, Jacobson, Sood, Martens, Liu, Friedman, Khanna, Koenekoop, Kelley et al.: Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. ... dans The Journal of clinical investigation 2012
We demonstrate that through this interaction, BBS6 modulates the sub-cellular localization of SMARCC1 (Montrer SMARCC1 Anticorps) and find, by transcriptional profiling, similar transcriptional changes following smarcc1a (Montrer SMARCC1 Anticorps) and bbs6 manipulation. Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.
Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7 (Montrer BBS7 Anticorps), BBS8 (Montrer TTC8 Anticorps), and BBS10 (Montrer BBS10 Anticorps) in causing Bardet-Biedl Syndrome.
found compound heterozygous variants (c.1192C>T, p.Q398* and c.1175C>T, p.T392M) in MKKS in both the siblings, and these were likely to be pathogenic variants
We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly.
we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS (Montrer BBS2 Anticorps) genes (BBS3 (Montrer ARL6 Anticorps), BBS9 (Montrer BBS9 Anticorps), BBS10 (Montrer BBS10 Anticorps) and BBS2 (Montrer BBS2 Anticorps)) compared to worldwide (BBS1 (Montrer BBS1 Anticorps) and 10) reports.
Novel mutation (c.1272+1G>A) in BBS6 found in Tunisian families with Bardet-Biedl syndrome.
Findings indicate that Bbs (Montrer BBS2 Anticorps) proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA (Montrer RHOA Anticorps) levels.
Three uORFs (uMKKS0, uMKKS1 and uMKKS2) are reported, and they can repress the translation of the downstream MKKS ORF. uMKKS1 and uMKKS2 are highly conserved in mammals and they encode two different mitochondrial membrane proteins respectively.
Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
genetic variations at MKKS gene influence the risk of metabolic syndrome
The presence of three mutant alleles in the BBS (Montrer BBS2 Anticorps) family correlates with a more severe Bardet-Biedl phenotype.
Combinations of Cep290rd16 & Mkksko alleles improved ciliogenesis & sensory functions vs either mutant alone. Altered association of CEP290 (Montrer CEP290 Anticorps) & MKKS affects multiprotein complex integrity at the cilia transition zone & basal body.
Data implicate Bardet-Biedl syndrome genes in the regulation of vascular function and demonstrate that disrupting Bbs2 (Montrer BBS2 Anticorps) and Bbs6 genes affect differentially the vascular function.
MKKS/BBS6 is a novel centrosomal component required for cytokinesis
Mutations in Mkks are the basis of the BBS (Montrer BBS2 Anticorps)-like syndrome in knockout mice.
These results indicate that the MKKS mutants have an abnormal conformation and that chaperone-dependent degradation mediated by CHIP is a key feature of McKusick-Kaufman syndrome/Bardet-Biedl syndrome diseases.
Although BBS (Montrer BBS2 Anticorps) proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1 (Montrer BBS1 Anticorps), Bbs2 (Montrer BBS2 Anticorps), Bbs4 (Montrer BBS4 Anticorps), and Bbs6 mutant mice.
Bardet-Biedl syndrome (BBS (Montrer BBS2 Anticorps)) proteins mediate LepR (Montrer LEPR Anticorps) trafficking and that impaired LepR (Montrer LEPR Anticorps) signaling underlies energy imbalance in BBS (Montrer BBS2 Anticorps).
This gene encodes a protein which shares sequence similarity with other members of the chaperonin family. The encoded protein may have a role in protein folding, processing and assembly. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants.
McKusick-Kaufman syndrome protein
, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
, Bardet-Biedl syndrome 6
, McKusick-Kaufman syndrome
, mcKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin-like
, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin-like
, bardet-Biedl syndrome 6 protein
, McKusick-Kaufman syndrome protein; MKKS protein
, protein Bbs6 homolog