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Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2019, Volume 129, Issue 1, pp. 246 - 251
Using an integrated approach to characterize the pancreatic tissue and isolated islets from a 33-year-old with 17 years of type 1 diabetes (T1D), we found that... 
MEDICINE, RESEARCH & EXPERIMENTAL | GENE-EXPRESSION | YOUNG | MUTATIONS | INSULIN-SECRETION | GROWTH | Insulitis | Transcription factors | Transcription | Nucleotide sequence | Secretion | Homeostasis | Diabetes mellitus (insulin dependent) | Glucose | Gene expression | Insulin | Proteins | Beta cells | Diabetes | Mutation | Pancreas | Deoxyribonucleic acid--DNA
Journal Article
Reading in a Foreign Language, ISSN 1539-0578, 04/2019, Volume 31, Issue 1, p. 19
Journal Article
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 140 - 143
Journal Article
Diabetes, ISSN 0012-1797, 05/2018, Volume 67, Issue Supplement 1, p. 1379
Journal Article
Diabetes, ISSN 0012-1797, 05/2018, Volume 67, Issue Supplement 1, p. 2353
Journal Article
Diabetes, ISSN 0012-1797, 05/2018, Volume 67, Issue Supplement 1, p. 264
Journal Article
Diabetes Research and Clinical Practice, ISSN 0168-8227, 05/2019, Volume 151, pp. 231 - 236
We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade.... 
Pathogenic variants | MODY | Next-generation sequencing | Glucokinase | Monogenic diabetes | Isoenzymes
Journal Article
Journal of Psychopharmacology, ISSN 0269-8811, 3/2012, Volume 26, Issue 3, pp. 374 - 379
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2019, Volume 129, Issue 1, p. 246
Using an integrated approach to characterize the pancreatic tissue and isolated islets from a 33-year-old with 17 years of type 1 diabetes (T1D), we found that... 
Islands of Langerhans | Research | Genetic regulation | Genetic variation
Journal Article
Journal Article
Pediatric diabetes, ISSN 1399-543X, 5/2018, Volume 19, Issue 3, pp. 388 - 392
Diabetes occurs in 1/90,000–1/160,000 births and when diagnosed under 6 months of age is very likely to have a primary genetic cause. FOXP3 encodes a... 
splice mutation | T Cell | autoimmunity | FOXP3 | Monogenic diabetes
Journal Article
Acta Diabetologica, ISSN 0940-5429, 4/2019, Volume 56, Issue 4, pp. 405 - 411
GCK-MODY is characterized by mild hyperglycemia. Treatment is not required outside of pregnancy. During pregnancy, insulin treatment is recommended if second... 
Pregnancy | MODY | Medicine & Public Health | Glucokinase | Metabolic Diseases | Internal Medicine | Diabetes | HYPERGLYCEMIA | ENDOCRINOLOGY & METABOLISM | COMPLICATIONS | GLUCOKINASE MUTATIONS | Hyperglycemia | Pregnant women | Isoenzymes | Infants | Insulin | Diabetes therapy | Neonates | Fetuses | Diabetes mellitus | Births | Management | Hypoglycemia | Gestational age | Birth weight | Miscarriage | Ultrasound
Journal Article