- ►nih.gov LW Harries, MJ Sloman, EAC Sellers, AT … - Diabetes, 2008 - Am Diabetes Assoc RESULTS—Full-length G319S mRNA accounted for 24% of mRNA transcripts in the
homozygous G319S cell line. A novel isoform lacking the terminal 12 bases of
exon 4 was upregulated (55% of mRNA transcripts) compared with control cell ... Related articles - All 5 versions
TFJR Lo, FA Kruyt, MB Zweekhorst, G Pals, … - Human mutation, 1998 - ncbi.nlm.nih.gov Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense
mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one
exon causing skipping of another downstream. ... Lo Ten Foe JR, Kruyt FA, ... Cited by 6 - Related articles - BL Direct
RA Hegele, H Cao, SB Harris, B Zinman, AJ … - Int J Obes Relat Metab Disord, 2000 - bases.bireme.br Among the Oji-Cree of northern Ontario, women have both a higher prevalence and
an earlier onset of type 2 diabetes compared to men. We studied the relationship
between HNF1A S319 and both the presence of and the age-of-onset of type 2 ... Cited by 9 - Related articles - Cached - BL Direct - All 3 versions
H Thomas, B Badenberg, M Bulman, I Lemm, J … - Biological chemistry, 2002 - reference-global.com Maturity onset diabetes of the young (MODY) is a mono- genic form of diabetes
mellitus characterized by autoso- mal dominant inheritance, onset usually before
the age of 25 years and a primary defect in glucose-stimulated in- sulin ... Cited by 15 - Related articles - BL Direct - All 4 versions
S Ellard, K Thomas, EL Edghill, M Owens, L … - Diabetologia, 2007 - Springer Page 1. SHORT COMMUNICATION Partial and whole gene deletion mutations of the
GCK and HNF1A genes in maturity-onset diabetes of the young ... Cited by 19 - Related articles - BL Direct - All 2 versions
- ►diabetesjournals.org LW Harries, AT Hattersley, S Ellard - Diabetes, 2004 - Am Diabetes Assoc Mutations in the hepatocyte nuclear factor-1 (HNF-1a) gene cause maturity-onset
diabetes of the young (MODY). Approximately 30% of these mutations generate mRNA
transcripts harboring premature termination codons (PTCs). Degradation of ... Cited by 29 - Related articles - BL Direct - All 4 versions
- ►diabetesjournals.org EAC Sellers, B Triggs-Raine, C Rockman- … - Diabetes Care, 2002 - Am Diabetes Assoc RESULTS—A total of 51 youth seen sequentially in a type 2 diabetes clinic
participated in this study. Of these, 21 (41.2%) had at least one copy of the
mutant allele. The allele frequency in the study population was 0.29 (95% ... Cited by 22 - Related articles - BL Direct - All 7 versions
