Results 61 to 70 of about 4,722 (199)

陕西地区静脉血栓栓塞症患者MTHFR和MTRR基因多态性分析以及对临床诊疗的指导意义

Zhongguo shiyan zhenduanxue, 2022
目的 探讨陕西地区静脉血栓栓塞症患者MTHFR和MTRR基因多态性分布情况。方法 选取西安交通大学第一附属医院静脉血栓栓塞症治疗患者439例，检测MTHFR和MTRR的基因型，统计基因型及等位基因分布特征，并对比国内外其他地区基因型及等位基因分布差异。结果 MTHFR和MTRR基因型分布CT、TT、CC;AA、AG、GG，分别占患者总数的48.06%、30.07%、21.87%;67.43%、28.93%、3.64%。MTHFR CC及TT等位基因频率分别为45.90%和54.10%;MTRR ...
张李婷, 马文兵, 关栋, 邓祥
doaj  

Analysis of association between FGB, MTHFR, MTR and MTRR genes polymorphisms and ischemic and hemorrhagic stroke

Zaporožskij Medicinskij Žurnal, 2020
The genetic component is a leading factor of stroke manifestation. Contribution of single nucleotide polymorphisms or combined genotypes to disease development has population differences.
V. I. Tsymbaliuk, I. G. Vasylieva, M. R. Kostiuk, N. G. Chopyk, O. S. Galanta, O. I. Tsiubko, N. P. Oleksenko , A. B. Dmytrenko, T. A. Makarova, N. D. Snitzar   +9 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

MTRR rs326119 polymorphism is associated with plasma concentrations of homocysteine and cobalamin, but not with congenital heart disease or coronary atherosclerosis in Brazilian patients

International Journal of Cardiology: Heart & Vasculature, 2017
Background: Differences in the distribution of the MTRR rs326119 polymorphism (c.56+781 A>C) between patients with congenital heart disease (CHD) and controls have been described in Chinese individuals.
Melanie Horita, Carolina Tosin Bueno, Andrea R Horimoto, Pedro A Lemos, Antonio A Morandini-Filho, Jose E Krieger, Paulo C J L Santos, Alexandre C Pereira   +7 more
doaj   +1 more source

Methionine Synthase Interacts With the Methionine Adenosyl‐Transferase MATα2 and the DNA Methyltransferase DNMT3b in the Nucleus

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
This study shows that methionine synthase (MS) interacts with MATα2, responsible for SAM production, and the methyltransferase DNMT3b in the nucleus. These results support the idea that spatial compartmentalization of one‐carbon metabolism could play a major role in regulating the epigenome.
Manon Jeandel, Jean‐Marc Alberto, Okan Baspinar, Aurélie Robert, Natacha Dreumont, Zeinab Alsahly, David Meyre, Jean‐Louis Guéant, David Coelho   +8 more
wiley   +1 more source

The allelic frequencies and associations between reduced sperm counts and common polymorphisms in the MTRR gene.

, 2013
The allelic frequencies and associations between reduced sperm counts and common polymorphisms in the MTRR gene.
Jacqueline Mandelbaum (371312), Jean-Pierre Siffroi (371313), Luis Barreiro (371306), Isabelle Aknin-Seifer (371308), Jerome Pfeffer (371309), Clementine Chalmey (371305), Anu Bashamboo (246674), Sandra Chantot-Bastaraud (371303), Ken McElreavey (246698), Isabelle Berthaut (371310), E. Emmanuelle Mathieu (371311), Celia Ravel (371301)   +11 more
core   +1 more source

Proteostasis Rebalancing by LET‐607 Deficiency Promotes Longevity

Aging Cell, Volume 25, Issue 7, July 2026.
LET‐607 enforces a trade‐off between UPRER and UPRcyto in C. elegans, maintaining a proteostatic balance optimized for development but suboptimal for longevity. LET‐607 deficiency suppresses UPRER but activates UPRcyto via attenuation of one‐carbon metabolism and H3K9 methylation, thereby enhancing cytosolic proteostasis and extending lifespan ...
Haixiang Tong, Wei Li, Pangui Yuan, Feng Li, Qin Liu, Shanshan Pang, Haiqing Tang   +6 more
wiley   +1 more source

Haplotype analysis of the folate-related genes MTHFR, MTRR, and MTR and migraine with aura

, 2013
Aims: The C677T variant in the methylenetetrahydrofolate reductase (MTHFR; EC 1.5.1.20) enzyme, a key player in the\ud folate metabolic pathway, has been associated with increased risk of migraine with aura.
Launer, L. J., Scher, A. I., Gudnason, V., Harris, T., Smith, A., Roecklein, Kathryn A, Garcia, M., Eiriksdottir, G.   +7 more
core   +1 more source

MTRR A66G polymorphism among two caste groups of Uttar Pradesh (India)

Indian Journal of Medical Sciences, 2012
This study was aimed to evaluate the Methionine synthase reductase (MTRR) A66G mutation in Yadav and Scheduled Caste (SC) population of Uttar Pradesh.Blood samples were collected from 100 subjects after taking informed written consent and PCR-RFLP method was used for the analysis of A66G mutation.
Vandana, Rai, Upendra, Yadav, Pradeep, Kumar   +2 more
openaire   +2 more sources