- ►osu.edu [PDF] AD Johnson, D Wang, W Sadee - Pharmacology and Therapeutics, 2005 - Elsevier Functional polymorphisms that alter gene expression and mRNA processing appear to play a
critical role in shaping human phenotypic variability. Intensive studies on polymorphisms affecting
drug response have revealed multiple modes of altered gene function, frequently ... Cited by 34 - Related articles - All 5 versions
S Ellard, K Colclough - Human mutation, 2006 - interscience.wiley.com Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized
by autosomal dominant inheritance, early age of onset (often <25 years of age), and pancreatic
-cell dysfunction. MODY is both clinically and genetically heterogeneous, with six different ... Cited by 33 - Related articles - BL Direct - All 4 versions
FMA Giuffrida, AF Reis - Diabetes Obesity and Metabolism, 2005 - interscience.wiley.com Genetic factors play an important role in various forms of diabetes mellitus (DM), but inheritance
is complex and interacts with environmental factors. Although in most cases type 2 DM
(T2DM) and T1DM are polygenic disorders, several monogenic forms have been ... Cited by 32 - Related articles - All 4 versions
LW Harries, C Bingham, C Bellanne-Chantelot, AT … - Human genetics, 2005 - Springer Abstract The nonsense-mediated decay (NMD) pathway is an mRNA surveillance mechanism
that detects and degrades transcripts containing premature termination codons. The position
of a truncating mutation can govern the resulting phenotype as mutations in the last exon ... Cited by 22 - Related articles - BL Direct - All 3 versions
- ►oxfordjournals.org LW Harries, S Ellard, A Stride… - Human Molecular Genetics, 2006 - Oxford Univ Press The generation of multiple transcripts by mRNA processing has the potential to moderate differences
in gene expression both between tissues and at different stages of development. Where gene
function is compromised by mutation, the presence of multiple isoforms may influence the ... Cited by 21 - Related articles - BL Direct - All 6 versions
M Dybbs, J Ngai, JM Kaplan - PLoS Genet, 2005 - genetics.plosjournals.org Forward genetic screens have been used as a powerful strategy to dissect complex biological
pathways in many model systems. A significant limitation of this approach has been the
time-consuming and costly process of positional cloning and molecular characterization ... Cited by 19 - Related articles - Cached - All 10 versions
J Boyer, C Crosnier, C Driancourt, N Raynaud, M … - Human genetics, 2005 - Springer Abstract Heterozygous mutations in JAGGED1 (JAG1), encoding a ligand for Notch
receptors, have been iden- tified in patients with Alagille syndrome (AGS). These mutations map
to the extracellular and transmembrane domains of JAG1, giving rise in 70% cases to a ... Cited by 18 - Related articles - All 5 versions
MD Ware, D DeSilva, OM Sinilnikova, D Stoppa- … - Oncogene, 2005 - nature.com BRCA2 (BReast CAncer susceptibility gene 2) germline mutation carriers are at increased risk
for breast and ovarian cancers. Mutations occurring in the ovarian cancer cluster region
(OCCR) are linked to higher ovarian cancer and/or lower breast cancer risk(s) than ... Cited by 18 - Related articles - BL Direct - All 5 versions
C Bellanné-Chantelot, C Carette, JP Riveline, R Valéro … - Diabetes, 2008 - Am Diabetes Assoc RESULTS—Missense mutations prevailed in the dimerization and DNA-binding domains
(74%), while truncating mutations were predominant in the transactivation domain (62%). The
majority (83%) of the mutations were located in exons 1- 6, thus affecting the three ... Cited by 15 - Related articles - BL Direct - All 4 versions
- ►nih.gov S Ellard, C Bellanne-Chantelot, AT Hattersley - Diabetologia, 2008 - Springer Abstract Aims/hypothesis Mutations in the GCK and HNF1A genes are the most common cause
of the monogenic forms of diabetes known as 'maturity-onset diabetes of the young'. GCK encodes
the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations ... Cited by 17 - Related articles - BL Direct - All 11 versions
