Genomes and Genes
P M Thomas
Affiliation: University of Michigan
- Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancyP M Thomas
Department of Medical Specialties, University of Texas M D Anderson Cancer Center, Houston, USA
Am J Hum Genet 59:510-8. 1996..These data suggest that both nucleotide-binding-fold regions of the sulfonylurea receptor are required for normal regulation of beta-cell ATP-dependent potassium channel activity and insulin secretion...
- Genetic mutations as a cause of hyperinsulinemic hypoglycemia in childrenP M Thomas
Department of Pediatrics, University of Michigan Medical School, Ann Arbor, USA
Endocrinol Metab Clin North Am 28:647-56, viii. 1999..This article reviews recent progress that has elucidated several beta-cell molecular defects responsible for the pathogenesis of this disorder...
- Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancyP M Thomas
Department of Medical Specialties, University of Texas M D Anderson Cancer Center, Houston 77030, USA
Science 268:426-9. 1995..Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene...
- Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancyP M Thomas
Department of Medical Specialties, University of Texas M D Anderson Cancer Center, Houston 77030
Am J Hum Genet 56:416-21. 1995..Identification of this gene may allow a better understanding of other disorders of glucose homeostasis, by providing insight into the regulation of insulin release...
- A human succinate-ubiquinone oxidoreductase CII-3 subunit gene ending in a polymorphic dinucleotide repeat is located within the sulfonylurea receptor (SUR) geneN Wohllk
Section of Endocrinology, The University of Texas M D Anderson Cancer Center, Houston, Texas, 77030, USA
Mol Genet Metab 65:187-90. 1998..The second gene CII-3b is expressed at a low level and contains a 102-bp internal deletion compared to CII-3 cDNA. These genes should prove valuable in the characterization of Complex II disorders...
- A novel sulfonylurea receptor family member expressed in the embryonic Drosophila dorsal vessel and tracheal systemI Nasonkin
Department of Pediatric, University of Michigan, Ann Arbor, Michigan 48109 0646, USA
J Biol Chem 274:29420-5. 1999..The lack of gene duplication in the Drosophila system provides a unique opportunity for functional studies of SUR using a genetic approach...
- Structure of the mouse calcitonin/calcitonin gene-related peptide alpha and beta genesP M Thomas
Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA
DNA Seq 12:131-5. 2001..The predicted mouse alpha-CGRP was found to be identical to rat alpha-CGRP, however, beta-CGRP predicted amino acid sequences revealed three amino acid differences suggesting these residues are not critical to CGRP function...
- A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in FinlandT Otonkoski
Transplantation Laboratory, Haartman Institute, and University of Helsinki, Finland
Diabetes 48:408-15. 1999..This unique SUR1 mutation explains the majority of PHHI cases in Finland and is strongly associated with a severe form of the disease. These findings provide diagnostic and prognostic utility for suspected PHHI patients...