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CD133 negative glioma cells form tumors in nude rats and give rise to CD133 positive cells
TLDR
It is shown that CD133 negative glioma cells are tumorgenic in nude rats, and thatCD133 positive cells can be obtained from these tumors, suggesting that it may be involved during brain tumor progression. Expand
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
TLDR
Loss-of-function mutations in humans provide strong evidence that SLC30A8 haploinsufficiency protects against type 2 diabetes, suggesting ZnT8 inhibition as a therapeutic strategy in T2D prevention. Expand
Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3
TLDR
It is reported that human highly conserved noncoding elements in LD with the risk SNPs drive expression in endoderm or pancreas in transgenic mice and zebrafish, suggesting a direct link of pancreatic IRX3 function to both obesity and type 2 diabetes. Expand
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
TLDR
Apparently insulin-dependent patients with mutations in Kir6.2 may be managed on an oral sulfonylurea with sustained metabolic control rather than insulin injections, illustrating the principle of pharmacogenetics applied in diabetes treatment. Expand
Expression of the "stem cell marker" CD133 in pancreas and pancreatic ductal adenocarcinomas
TLDR
Neither in the pancreas nor in the other investigated organs can CD133 membrane expression alone be a criterion for "stemness", however, there was an interesting difference in subcellular localization with a minor cell population in normal and malignant pancreatic tissue showing cytoplasmic expression. Expand
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
TLDR
Findings link diabetes to the disrupted function of a lipase in the pancreatic acinar cells and some evidence for an association between common insertions in the CEL VNTR and exocrine dysfunction is found in a group of 182 unrelated subjects with diabetes. Expand
Genome-wide association study identifies three new melanoma susceptibility loci
TLDR
Seven new regions with at least one SNP with P < 10−5 and further local imputed or genotyped support were selected for replication using two other genome-wide studies and showed no association with nevus or pigmentation phenotypes in a large British case-control series. Expand
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
TLDR
It is proposed that this region contains a gonad specific SOX9 transcriptional enhancer(s), the gain or loss of which results in genomic imbalance sufficient to activate or inactivate SoX9 gonadal expression in a tissue specific manner, switch sex determination, and result in isolated DSD. Expand
FTO, Type 2 Diabetes, and Weight Gain Throughout Adult Life
TLDR
It is identified that a variant in FTO alters type 2 diabetes risk partly independent of its observed effect on BMI, and the additional weight gain as a result of the FTO risk variant seems to occur before adulthood, andThe BMI difference remains stable thereafter. Expand
Neonatal diabetes mellitus due to complete glucokinase deficiency.
TLDR
Two patients in whom complete deficiency of the glycolytic enzyme glucokinase, a key regulator of glucose metabolism in pancreatic beta, is described are described. Expand
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