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The protein encoded by CDKAL1 is a member of the methylthiotransferase family. Zusätzlich bieten wir Ihnen CDKAL1 Antikörper (50) und CDKAL1 Kits (4) und viele weitere Produktgruppen zu diesem Protein an.
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Non-significant association was seen in the two single nucleotide polymorphisms (SNPs) of CDKAL1 (rs7754840) and CDKN2A/2B (rs10811661) with gestational diabetes mellitus (GDM).
chromosomal region 6p22.3 is a novel susceptibility locus for nsCL (zeige NHLH1 Proteine)/P. The location of the risk variants within the CDKAL1 intronic sequence containing enhancer elements predicted to regulate the SOX4 transcription may suggest that SOX4, rather than CDKAL1, is a potential candidate gene for this craniofacial anomaly.
More CDKAL1 variants are required to validate the association between CDKAL1 and gestational glycemic traits.
Forced MT1E (zeige MT1E Proteine) expression rescues both hypersensitivity of CDKAL1 mutant cells to glycolipotoxicity and pancreatic beta-cell dysfunction in vitro and in vivo.
CDKAL1 gene is associated with development of type 2 diabetes. For the HHEX (zeige HHEX Proteine)/IDE (zeige IDE Proteine) locus, such an association is absent.
family-based GWAS of imputed SNPs revealed novel genomic variants in (or near) PTPRG (zeige PTPRG Proteine), OSBPL6 (zeige OSBPL6 Proteine), and PDCL3 (zeige PDCL3 Proteine) that influence risk for Alzheimer's Disease. rs7609954 in the gene PTPRG (zeige PTPRG Proteine), rs1347297 in the gene OSBPL6 (zeige OSBPL6 Proteine), and rs1513625 near PDCL3 (zeige PDCL3 Proteine). In addition, rs72953347 in OSBPL6 (zeige OSBPL6 Proteine) and two SNPs in the gene CDKAL1 showed marginally significant association with LOAD (rs10456232, P-value=4.76 x 10-7; rs62400067, P-value=3.54 x 10-7).
The multivariate logistic regression analysis with reference to both alleles and genotypes of CDKAL1 SNPs showed significant association, suggesting an important role for this gene in the T2DM pathophysiology. INTERPRETATION & CONCLUSIONS: A significant association was seen of all the three SNPs of CDKAL1 and CDKN2A/B genes with T2DM but none of the two SNPs of HHEX (zeige HHEX Proteine).
Study provides evidence that SNPs of JMJD1C and KCNQ1 (zeige KCNQ1 Proteine) are prospectively associated with the risk of type 2 diabetes (T2D) in Korean population. Additionally, CDKAL1 may not be associated with T2D onset over the age of 40.
Our results suggest that rs6908425 in CDKAL1 is associated with the risk of developing SAPHO in Han Chinese populations. People who carry the risk allele T of rs6908425 might be more prone to developing SAPHO syndrome.
We investigated the association between 8 single-nucleotide polymorphisms (SNPs) at 3 genetic loci (CDKAL1, CDKN2A/2B and FTO (zeige FTO Proteine)) with type 2 diabetes (T2D) in a Uyghur population
CDKAL1 may affect such compensatory mechanisms regulating glucose homeostasis through interaction with diet
Knockout mice with pancreatic beta-cell-specific lack of cdkal1 show pancreatic islet hypertrophy and impaired blood glucose control.
Data show that Cdkal1 is a mammalian methylthiotransferase that biosynthesizes 2-methylthio-N6-threonylcarbamoyladenosine (ms2t6A) in tRNA(Lys (zeige LYZ Proteine))(UUU) and that it is required for the accurate translation of AAA (zeige AAAS Proteine) and AAG (zeige C16orf35 Proteine) codons.
CDKAL1 controls first-phase insulin (zeige INS Proteine) exocytosis in beta cells by facilitating ATP generation, K(ATP) channel responsiveness and the subsequent activity of Ca(2 (zeige CA2 Proteine)+) channels through pathways other than CDK5 (zeige CDK5 Proteine)-mediated regulation
The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes.
CDK5 regulatory subunit-associated protein 1-like 1
, tRNA-t(6)A37 methylthiotransferase
, threonylcarbamoyladenosine tRNA methylthiotransferase
, CDK5 regulatory subunit associated protein 1-like 1