Associated Papers
Genetic background influences the phenotypic penetrance by MAFA S64F MODY in male mice.
Loyd Z et al.
Biorxiv : the Preprint Server for Biology, 2025
The mitochondrial NAD transporter SLC25A51 is a modulator of beta cell senescence and type 2 diabetes.
Kong BS et al.
Biorxiv : the Preprint Server for Biology, 2025
Neuroendocrine Tumors: Germline Genetics and Hereditary Syndromes.
Lauricella E et al.
Current Treatment Options in Oncology, 2025
Defining unique structural features in the MAFA and MAFB transcription factors that control Insulin gene activity.
Cha J et al.
The Journal of Biological Chemistry, 2024
GOAT rs10096097 and CREB1 rs6740584 single nucleotide polymorphisms are associated with type 2 diabetes mellitus in Egyptians.
Shahin NN et al.
Archiv Der Pharmazie, 2024
Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.
Larsen AR et al.
Histology and Histopathology, 2024
Defining unique structural features in the MAFA and MAFB transcription factors that control Insulin gene activity.
Cha J et al.
Biorxiv : the Preprint Server for Biology, 2024
Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.
Fujino M et al.
Genes, 2023
Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.
Ma NS et al.
Current Osteoporosis Reports, 2023
Mafa-dependent GABAergic activity promotes mouse neonatal apneas.
Lecoin L et al.
Nature Communications, 2022
Role of the Transcription Factor MAFA in the Maintenance of Pancreatic β-Cells.
Nishimura W et al.
International Journal of Molecular Sciences, 2022
Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial Insulinomatosis.
Fottner C et al.
Cancers, 2022
The application of precision medicine in monogenic diabetes.
Barbetti F et al.
Expert Review of Endocrinology & Metabolism, 2022
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 2022
Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males.
Walker EM et al.
Cell Reports, 2021
How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.
Vaxillaire M et al.
Current Diabetes Reports, 2019
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
Iacovazzo D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Adult Proinsulinomatosis Associated With a MAFA Germline Mutation as a Rare Cause of Recurrent Hypoglycemia.
Mintziras I et al.
Pancreas, 0