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An Appraisal of the Role of Previously Reported Risk Factors in the Age at Menopause Using Mendelian Randomization
ConclusionOur results help to identify the risk factors of ANM via a genetics approach and future research into the biological mechanism could further help with targeted prevention for early menopause.
Source: Frontiers in Genetics - May 28, 2020 Category: Genetics & Stem Cells Source Type: research

Kosaki overgrowth syndrome: a novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
This article is protected by copyright. All rights reserved. PMID: 32291752 [PubMed - as supplied by publisher]
Source: Clinical Genetics - April 13, 2020 Category: Genetics & Stem Cells Authors: Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, John Tags: Clin Genet Source Type: research

Genetic variation of matrix metalloproteinase enzyme in HIV-associated neurocognitive disorder.
Abstract Matrix metalloproteinases (MMPs) play a key role in several diseases such as rheumatoid arthritis, HIV-associated neurological diseases (HAND), multiple sclerosis, osteoporosis, stroke, Alzheimer's disease, certain viral infections of the central nervous system, cancer, and hepatitis C virus. MMPs have been explained with regards to extracellular matrix remodeling, which occurs throughout life and ranges from tissue morphogenesis to wound healing in various processes. MMP are inhibited by endogenous tissue inhibitors of metalloproteinases (TIMPs). Matrix metalloproteases act as an interface between host's...
Source: Gene - February 26, 2019 Category: Genetics & Stem Cells Authors: Singh H, Nain S, Krishnaraj A, Lata S, Dhole TN Tags: Gene Source Type: research

S-adenosylhomocysteine hydrolase over-expression does not alter S-adenosylmethionine or S-adenosylhomocysteine levels in CBS deficient mice
Publication date: June 2018Source: Molecular Genetics and Metabolism Reports, Volume 15Author(s): Hyung-Ok Lee, Liqun Wang, Yin-Ming Kuo, Andrew J. Andrews, Sapna Gupta, Warren D. KrugerAbstractElevated plasma total homocysteine (tHcy) is associated with a number of human diseases including coronary artery disease, stroke, osteoporosis and dementia. It is highly correlated with intracellular S-adenosylhomocysteine (SAH). Since SAH is a strong inhibitor of methyl-transfer reactions involving the methyl-donor S-adenosylmethionine (SAM), elevation in SAH could be an explanation for the wide association of tHcy and human disea...
Source: Molecular Genetics and Metabolism Reports - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Medical cost savings in Sakado City and worldwide achieved by preventing disease by folic acid fortification.
Abstract The introduction of mandatory fortification of grains with folate in 1998 in the United States resulted in 767 fewer spina bifida cases annually and a cost savings of $603 million per year. However, far more significant medical cost savings result from preventing common diseases, including myocardial infarction, stroke, dementia and osteoporosis. A cost‐effectiveness analysis showed a gain of 266,649 quality‐adjusted life‐years and $3.6 billion saved annually, mainly due to the reduction of cardiac infarction. The recommended folate intake in Japan is 240 µg//d whereas it is 400 µg//d internationally. ...
Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Yasuo Kagawa, Mami Hiraoka, Mitsuyo Kageyama, Yoshiko Kontai, Mayumi Yurimoto, Chiharu Nishijima, Kaori Sakamoto Tags: Invited Review Article Source Type: research