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
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
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
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
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
Nucleotide variation of sFRP5 gene is not associated with obesity in children and adolescents.
Van Camp JK et al.
Molecular Biology Reports, 2016
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
Kuhn M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
INS-gene mutations: from genetics and beta cell biology to clinical disease.
Liu M et al.
Molecular Aspects of Medicine, 2015
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE et al.
Cell Metabolism, 2014
[Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history].
Di Benedetto M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2013
[Insulin gene mutations].
Nishi M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.
Barzaghi F et al.
Frontiers in Immunology, 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
A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia.
Marino C et al.
European Journal of Human Genetics : Ejhg, 2005
[Insulin gene mutation].
Nishi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.
Denamur E et al.
Journal of the American Society of Nephrology : Jasn, 1999
Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.
Sobrier ML et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
[Recombinant DNA in the study of diabetes mellitus].
Pankov IuA
Molekuliarnaia Biologiia, 0