Maturity-onset diabetes of the young (MODY) are monogenic forms of type 2 diabetes that are characterized by an early disease-onset, autosomal dominant inheritance, and defects in insulin secretion. Genetic studies have identified mutations in at least six genes associated with different forms of MODY. The majority of the MODY subtypes are caused by mutations in transcription factors that include hepatocyte nuclear factor (HNF)-4α, HNF-1α, PDX-1, HNF-1β, and NEURO-D1/BETA-2. In addition, genetic defects in the glucokinase gene, the glucose sensor of the pancreatic β-cells, and the insulin gene also lead to impaired glucose tolerance. Using molecular and genetic approaches, we demonstrated that the MODY genes are functionally related and form an integrated transcriptional network that plays an essential role in development and in different metabolic pathways.
","abstract_html":"<p>Maturity-onset diabetes of the young (MODY) are monogenic forms of type 2 diabetes that are characterized by an early disease-onset, autosomal dominant inheritance, and defects in insulin secretion. Genetic studies have identified mutations in at least six genes associated with different forms of MODY. The majority of the MODY subtypes are caused by mutations in transcription factors that include hepatocyte nuclear factor (HNF)-4α, HNF-1α, PDX-1, HNF-1β, and NEURO-D1/BETA-2. In addition, genetic defects in the glucokinase gene, the glucose sensor of the pancreatic β-cells, and the insulin gene also lead to impaired glucose tolerance. Using molecular and genetic approaches, we demonstrated that the MODY genes are functionally related and form an integrated transcriptional network that plays an essential role in development and in different metabolic pathways.</p>","abstract_has_math":false,"creators":["Shih, David Quan"],"institution":null,"degree_name":"Doctor of Philosophy (PhD)","degree_level":"Thesis","degree_discipline":null,"degree_department":null,"school":null,"contributors":["Markus Stoffel"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2001,"date_issued":"2001-01-01T08:00:00Z","date_published":"2001-01-01T08:00:00Z","updated_at":"2026-07-24T04:11:28Z","subjects":["diabetes","maturity-onset diabetes of the young (MODY)","insulin secretion","transcription factors","genetic mutations","glucokinase","Life Sciences"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://digitalcommons.rockefeller.edu/student_theses_and_dissertations/447","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Markus Stoffel"]},{"key":"dc:creator","label":"Author","values":["Shih, David Quan"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"thesis:degree_level","label":"Degree Level","values":["Thesis"]},{"key":"thesis:degree_name","label":"Degree Name","values":["Doctor of Philosophy (PhD)"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["diabetes","maturity-onset diabetes of the young (MODY)","insulin secretion","transcription factors","genetic mutations","glucokinase","Life Sciences"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://digitalcommons.rockefeller.edu/student_theses_and_dissertations/447"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["Maturity-onset diabetes of the young (MODY) are monogenic forms of type 2 diabetes that are characterized by an early disease-onset, autosomal dominant inheritance, and defects in insulin secretion. Genetic studies have identified mutations in at least six genes associated with different forms of MODY. The majority of the MODY subtypes are caused by mutations in transcription factors that include hepatocyte nuclear factor (HNF)-4α, HNF-1α, PDX-1, HNF-1β, and NEURO-D1/BETA-2. In addition, genetic defects in the glucokinase gene, the glucose sensor of the pancreatic β-cells, and the insulin gene also lead to impaired glucose tolerance. Using molecular and genetic approaches, we demonstrated that the MODY genes are functionally related and form an integrated transcriptional network that plays an essential role in development and in different metabolic pathways.
"]},{"key":"dc:title","label":"Title","values":["Genetic and Molecular Analysis of Islet-and Liver-Enriched Transcription Factors in Metabolism and Development"]}]}],"canonical_facts":{"dc:contributor":["Markus Stoffel"],"dc:creator":["Shih, David Quan"],"dc:description.abstract":["Maturity-onset diabetes of the young (MODY) are monogenic forms of type 2 diabetes that are characterized by an early disease-onset, autosomal dominant inheritance, and defects in insulin secretion. Genetic studies have identified mutations in at least six genes associated with different forms of MODY. The majority of the MODY subtypes are caused by mutations in transcription factors that include hepatocyte nuclear factor (HNF)-4α, HNF-1α, PDX-1, HNF-1β, and NEURO-D1/BETA-2. In addition, genetic defects in the glucokinase gene, the glucose sensor of the pancreatic β-cells, and the insulin gene also lead to impaired glucose tolerance. Using molecular and genetic approaches, we demonstrated that the MODY genes are functionally related and form an integrated transcriptional network that plays an essential role in development and in different metabolic pathways.
"],"dc:identifier":["https://digitalcommons.rockefeller.edu/student_theses_and_dissertations/447"],"dc:subject":["diabetes","maturity-onset diabetes of the young (MODY)","insulin secretion","transcription factors","genetic mutations","glucokinase","Life Sciences"],"dc:title":["Genetic and Molecular Analysis of Islet-and Liver-Enriched Transcription Factors in Metabolism and Development"],"thesis:degree_level":["Thesis"],"thesis:degree_name":["Doctor of Philosophy (PhD)"]},"updated_at":"2026-07-24T04:11:28Z"}