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Pediatrics, ISSN 0031-4005, 09/2016, Volume 138, Issue 3, p. 1
  Background: Hyperglycemia in premature infants is usually thought to reflect inadequate pancreatic development rather than monogenic neonatal diabetes. No... 
Pediatrics | Newborn babies | Premature birth | Genetic testing | Diabetes | Mutation
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2018, Volume 115, Issue 5, p. 1027
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic... 
Glaucoma | Biotechnology | Phosphorylation | Transformation | MafA protein | Glucose | Males | Genotype & phenotype | Missense mutation | Pancreas | Phenotypes | Stability | Secretion | Diabetes mellitus | Heredity | Hypoglycemia | Insulin | Patients | Homozygotes | Pedigree | Human performance | Cell lines | Mutation | Diabetes | Islets of Langerhans | Females | Tumors | Neuroendocrine tumors
Journal Article
PLoS Genetics, ISSN 1553-7390, 02/2015, Volume 11, Issue 2
  The existence of viral variants that escape from the selection pressures imposed by cytotoxic T-lymphocytes (CTLs) in HIV-1 infection is well documented, but... 
Studies | Medical research | Mutation | Human immunodeficiency virus--HIV
Journal Article
Endocrinology, diabetes & metabolism case reports, ISSN 2052-0573, 05/2019, Volume 2019, Issue 1, pp. 1 - 4
Diazoxide is the first-line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). Approximately 50% of patients with HH are diazoxide resistant.... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 8, pp. 812 - 814
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 44, Issue 1, pp. 20 - 22
Journal Article
Diabetes, ISSN 0012-1797, 03/2013, Volume 62, Issue 3, pp. 993 - 997
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2007, Volume 104, Issue 38, pp. 15040 - 15044
We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in... 
Molecules | Medical genetics | Disulfides | Diabetes | Type 2 diabetes mellitus | Genetic mutation | Insulin | Chromosomes | Human genetics | Type 1 diabetes mellitus | Disulfide bonds | Insulin biosynthesis | Endoplasmic reticulum stress | Unfolded protein response | KIR6.2 | B-CHAIN | MULTIDISCIPLINARY SCIENCES | MOUSE | DOMINANT | ENDOPLASMIC-RETICULUM STRESS | PROINSULIN | IDENTIFICATION | PEPTIDE | disulfide bonds | unfolded protein response | LINKAGE ANALYSIS | CHIRAL MUTAGENESIS | endoplasmic reticulum | stress insulin biosynthesis | Proinsulin - metabolism | Diabetes Mellitus - genetics | Receptors, Drug - genetics | Humans | Molecular Sequence Data | Infant | Male | Mutation, Missense | Sulfonylurea Receptors | Potassium Channels - metabolism | ATP-Binding Cassette Transporters - genetics | ATP-Binding Cassette Transporters - metabolism | Female | Insulin - genetics | Infant, Newborn | Genetic Linkage | Amino Acid Sequence | Protein Precursors - genetics | Diabetes Mellitus - metabolism | Potassium Channels, Inwardly Rectifying - genetics | Proinsulin - genetics | Protein Folding | Receptors, Drug - metabolism | Potassium Channels - genetics | Protein Precursors - metabolism | Models, Biological | Pedigree | Heterozygote | Potassium Channels, Inwardly Rectifying - metabolism | Infants (Newborn) | Evaluation | Gene mutations | Genetic aspects | Diagnosis | Health aspects | Diseases | Biological Sciences | insulin biosynthesis | endoplasmic reticulum stress
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2006, Volume 355, Issue 5, pp. 467 - 477
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 29
Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe resistant hypoglycemia in newborn, infancy, and childhood period. Diazoxide is the... 
Epilepsy | Glucose | Mutation | Hypoglycemia | Siblings
Journal Article