Results 41 to 50 of about 5,460 (176)

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

C677T Gene Polymorphism of MTHFR Is a Risk Factor for Impaired Renal Function in Pregnant Women With Preeclampsia in the Chinese Han Population

Frontiers in Cardiovascular Medicine, 2022
Impaired renal function in pregnant women with preeclampsia is particularly common, yet there is no consensus about implementation. This lack of consensus is due in part to uncertainty about risks for disease progression.
Lin Yun, Lin Yun, Meiqi Ge, Rui Xu, Rui Xu, Fei Zheng, Xueqiang Zhao, Xinran Li   +7 more
doaj   +1 more source

The alleles C677T - A1298C methylenetetrahydrofolate reductase

, 2021
The alleles C677T - A1298C methylenetetrahydrofolate reductase M T H F R: Homocysteine metabolism is linked to DNA methylation, but also to the decoding of antibodies for the immune system, through histone methylation, a mechanism potentially involved in the course of virus infection.
openaire   +1 more source

Distribution of the MTHFR C677T polymorphism among populations in China.

, 2016
Distribution of the MTHFR C677T polymorphism among populations in China.
Jinjian Fu (381987), Dingyuan Zeng (2614942), Qianxi Li (2614939), Xingmin Wang (2614936)   +3 more
core   +1 more source

Clinical predictors of response to methotrexate in patients with rheumatoid arthritis: A systematic review

Rheumatology &Autoimmunity, EarlyView.
This review integrates clinical, immunological, genetic, and multi‐omic evidence, highlighting dynamic inflammatory and adenosine‐pathway biomarkers and reinforcing treat‐to‐target principles as the most actionable framework for personalized methotrexate therapy.
Joana Ramos Rodrigues, Helena Margarida de Miranda Lemos Romão Donato, Soraia Raquel Loureiro Azevedo, Luís Miguel da Silva Pires, Luís Pedro Bolotinha de Sousa Inês, Manuel Augusto Nunes Vicente Passos Morgado, Ana Filipa de Sousa Pestana Mourão   +6 more
wiley   +1 more source

Do the MTHFR gene polymorphism and Down syndrome pregnancy association stands true? A case–control study of Indian population and meta-analysis

Egyptian Journal of Medical Human Genetics, 2016
Background: Down syndrome, the most common trisomy 21 arises from abnormal chromosomal segregation. The etiology includes genetic and acquired factors.
Srinivasan Muthuswamy, Sarita Agarwal
doaj   +1 more source

Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies. [PDF]

PLoS ONE, 2012
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and is involved in DNA methylation, DNA synthesis, and DNA repair. In addition, it is a possible risk factor in neural tube defects (NTDs).
Lifeng Yan, Lin Zhao, Yan Long, Peng Zou, Guixiang Ji, Aihua Gu, Peng Zhao   +6 more
doaj   +1 more source

Serum Folate Concentration Corresponding to the Red Blood Cell Folate Threshold for Increased Risk of Neural Tube Defects Among Ethiopian Women of Reproductive Age

Maternal &Child Nutrition, EarlyView.
ABSTRACT Neural tube defects (NTDs) are severe birth defects linked to insufficient maternal folate status during early pregnancy. Red blood cell (RBC) folate concentration is the recommended biomarker for predicting NTD risk, with a threshold of 748 nmol/L using the US Centers for Disease Control and Prevention (CDC) microbiological assay. However, in
Biniyam Tesfaye, Meseret Woldeyohannes, Masresha Tessema, Charles Dale Arnold, Christine M. McDonald, Kenneth H. Brown   +5 more
wiley   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, Volume 78, Issue 11, Page 1691-1700, November 2026.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Methylenetetrahydrofolate reductase polymorphisms in myeloid leukemia patients from Northeastern Brazil

Genetics and Molecular Biology, 2008
Methylenetetrahydrofolate reductase (MTHFR: EC 1.5.1.20) polymorphisms are associated to acute lymphoid leukemia in different populations. We used the polymerase chain reaction and the restriction fragment length polymorphism method (PCR-RFLP) to ...
Cynara Gomes Barbosa, Claudio Lima Souza, José Pereira de Moura Neto, Maria da Glória Bomfim Arruda, José Henrique Barreto, Mitermayer Galvão Reis, Marilda Souza Goncalves   +6 more
doaj   +1 more source