Associated Papers
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
Permanent Neonatal Diabetes with High Insulin Requirements Due to a New Variant in the INS Gene.
Hernández JAB et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
The ATP Synthase Deficiency in Human Diseases.
Galber C et al.
Life (basel, Switzerland), 2021
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Yang J et al.
Frontiers in Physiology, 2021
Functional Genomics in Pancreatic β Cells: Recent Advances in Gene Deletion and Genome Editing Technologies for Diabetes Research.
Hu M et al.
Frontiers in Endocrinology, 2020
Molecular Mechanism of Cancer Susceptibility Associated with Fok1 Single Nucleotide Polymorphism of VDR in Relation to Breast Cancer
Raza S et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2019
[Insulin gene mutations].
Nishi M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012
Insulin gene mutations and diabetes.
Nishi M et al.
Journal of Diabetes Investigation, 2011
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R et al.
Antioxidants & Redox Signaling, 2010
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
Støy J et al.
Reviews in Endocrine & Metabolic Disorders, 2010
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.
Wiedemann B et al.
Pediatric Diabetes, 2010
Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
Guda K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
[Insulin gene mutation].
Nishi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002