Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G

Autor: Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva

Publikováno v: Acta Médica Portuguesa, Vol 30, Iss 7-8, Pp 581-585 (2017)

Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing

Externí odkaz: https://doaj.org/article/9f8f1653d6694d698d3a3f1f1871f8f6

Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome

Autor: Isis Atallah, Dominique McCormick, Jean-Marc Good, Mohammed Barigou, Montserrat Fraga, Christine Sempoux, Andrea Superti-Furga, Robert K. Semple, Christel Tran

Publikováno v: Atallah, I, McCormick, D, Good, J-M, Barigou, M, Fraga, M, Sempoux, C, Superti-Furga, A, Semple, R K & Tran, C 2022, ' Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome ', Journal of clinical lipidology . https://doi.org/10.1016/j.jacl.2022.06.004
Journal of clinical lipidology, vol. 16, no. 5, pp. 583-590

Werner syndrome is a premature ageing disorder caused by biallelic variants in the WRN gene. WRN encodes a dual DNA helicase/exonuclease enzyme. Molecular diagnosis is commonly only made at a late disease stage in the third or fourth decade, when car

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::513c014e12b40e46dff95666ae05afe3
https://www.pure.ed.ac.uk/ws/files/282649096/053022_Atallah.R1_clean.docx

YIPF5 mutations cause neonatal diabetes and microcephaly: progress for precision medicine and mechanistic understanding

Autor: Simeon I. Taylor, Toni I. Pollin

Publikováno v: Journal of Clinical Investigation. 130:6228-6231

Identifying genes that result in monogenic diabetes can provide insights that can build a scientific foundation for precision medicine. At present, nearly 20% of neonatal diabetes cases have unknown causes. In this issue of the JCI, De Franco and Lyt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4496de04465e47532e9ec4beb56a77fc
https://doi.org/10.1172/jci142364

Interactive Effects of a Combination of the HDAC3 and HDAC9 Genes with Diabetes Mellitus on the Risk of Ischemic Stroke

Autor: Chyi Huey Bai, Sung-Chun Tang, Hung Yi Chiou, Huey Juan Lin, Li Ming Lien, Chaur Jong Hu, Yi Chen Hsieh, Jiann-Shing Jeng

Publikováno v: Thrombosis and Haemostasis. 121:396-404

Background and Aim Previous studies indicated that the HDAC3 and HDAC9 genes play critical roles in atherosclerosis and ischemic stroke (IS). The purpose of this study was to investigate the association of combined single-nucleotide polymorphisms in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b836e4ba35924a3a3dd6acd95e6bb5e0
https://doi.org/10.1055/s-0040-1717116

Integrative analysis of Mendelian randomization and Bayesian colocalization highlights four genes with putative BMI-mediated causal pathways to diabetes

Autor: Hui Guo, Martin K. Rutter, Carlo Berzuini, Qian Liu, Jianxin Pan

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Liu, Q, Pan, J, Berzuini, C, Rutter, M K & Guo, H 2020, ' Integrative analysis of Mendelian randomization and Bayesian colocalization highlights four genes with putative BMI-mediated causal pathways to diabetes ', Scientific Reports, vol. 10, no. 1 . https://doi.org/10.1038/s41598-020-64493-4
Scientific Reports

Genome-wide association studies have identified hundreds of single nucleotide polymorphisms (SNPs) that are associated with BMI and diabetes. However, lack of adequate data has for long time prevented investigations on the pathogenesis of diabetes wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::414647feef87d29243b81a4e7cf06d1e
http://link.springer.com/article/10.1038/s41598-020-64493-4