| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Vykuntaraju K Gowda, Annsmol P Markose, Varunvenkat M Srinivasan, Viveka Santhosh C Redd. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria. Indian journal of pediatrics. 2024-09-03. PMID:39225921. |
comparison of cystathionine beta-synthase (cbs) and methylene tetrahydrofolate reductase (mthfr) deficiency in children with homocystinuria. |
2024-09-03 |
2024-09-05 |
Not clear |
| Yaqin Cai, Bin Liu, Yingping Zhang, Yuqiu Zho. MTHFR gene polymorphisms in diabetes mellitus. Clinica chimica acta; international journal of clinical chemistry. 2024-06-22. PMID:38908773. |
in 1972, severe mthfr deficiency resulting in homocystinuria was first reported, suggesting mthfr involvement in the disease. |
2024-06-22 |
2024-06-25 |
Not clear |
| Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamda. Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation. Case reports in urology. vol 2023. 2023-07-24. PMID:37485311. |
priapism in a child from homocystinuria from methylenetetrahydrofolate reductase mthfr (c677t) mutation. |
2023-07-24 |
2023-08-14 |
Not clear |
| Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamda. Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation. Case reports in urology. vol 2023. 2023-07-24. PMID:37485311. |
however, we present the first of such a case to the best of our knowledge of a prepubescent child who only had the mthfr (c677t) mutation that causes homocystinuria and had ischaemic priapism. |
2023-07-24 |
2023-08-14 |
Not clear |
| Yitong Lu, Shaozhi Zhao, Xiaohui He, Hua Yang, Xiaolei Wang, Chen Miao, Hongwei Liu, Xinwen Zhan. Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency. BMC medical genomics. vol 15. issue 1. 2022-12-25. PMID:36567323. |
novel compound heterozygous mutations of mthfr gene in a chinese family with homocystinuria due to mthfr deficiency. |
2022-12-25 |
2023-08-14 |
Not clear |
| Yitong Lu, Shaozhi Zhao, Xiaohui He, Hua Yang, Xiaolei Wang, Chen Miao, Hongwei Liu, Xinwen Zhan. Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency. BMC medical genomics. vol 15. issue 1. 2022-12-25. PMID:36567323. |
homocystinuria due to methylenetetrahydrofolate reductase (mthfr) deficiency is a rare autosomal recessive disorder. |
2022-12-25 |
2023-08-14 |
Not clear |
| Nadeesha Samarasinghe, Dinithi Mahaliyanage, Sumadee De Silva, Eresha Jasinge, Nimal Punyasiri, H W Dilanth. Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka. Journal, genetic engineering & biotechnology. vol 20. issue 1. 2022-12-13. PMID:36512268. |
association of selected genetic variants in cbs and mthfr genes in a cohort of children with homocystinuria in sri lanka. |
2022-12-13 |
2023-08-14 |
Not clear |
| Kiran Vemireddy, Nalinikanta Panigrahy, Lokesh Lingappa, Dinesh Chirl. Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency. BMJ case reports. vol 15. issue 1. 2022-01-05. PMID:34983810. |
mthfr deficiency also results in hyperhomocysteinemia, homocystinuria and hypomethionemia. |
2022-01-05 |
2023-08-13 |
Not clear |
| Amita Moirangthem, Deepti Saxena, Suzena Masih, Arya Shambhavi, Mayank Nilay, Shubha R Phadk. Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants. Clinical dysmorphology. 2021-11-30. PMID:34845156. |
inherited methylenetetrahydrofolate reductase (mthfr) deficiency is associated with a wide spectrum of disorders including homocystinuria. |
2021-11-30 |
2023-08-13 |
human |
| Amita Moirangthem, Deepti Saxena, Suzena Masih, Arya Shambhavi, Mayank Nilay, Shubha R Phadk. Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants. Clinical dysmorphology. 2021-11-30. PMID:34845156. |
this study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in mthfr. |
2021-11-30 |
2023-08-13 |
human |
| Hansashree Padmanabha, Ravi Shekhar, Rohan Mahale, Harikrishna Annam, Maya Bhat, Thuppanattumadam A Sangeeth, Rita Christopher, Gautham Arunachal, Pooja Mailankody, Pavagada S Mathuranat. Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder. Journal of inherited metabolic disease. vol 44. issue 6. 2021-11-22. PMID:34541688. |
reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to mthfr deficiency: a treatable metabolic disorder. |
2021-11-22 |
2023-08-13 |
Not clear |
| Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Sanjay K Shivapp. Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome. Indian journal of pediatrics. vol 88. issue 11. 2021-11-05. PMID:34347262. |
homocystinuria due to mthfr variant presenting as infantile tremor syndrome. |
2021-11-05 |
2023-08-13 |
Not clear |
| Ahra Cho, Sara D Ragi, Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Joseph Ryu, Ber-Yuh Yang, Stephen H Tsan. Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency. Molecular genetics & genomic medicine. vol 8. issue 7. 2021-04-30. PMID:32347013. |
the c677t variant of the mthfr (5,10-methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (omim#236250), neural tube defects (omim#601634), schizophrenia (omim#181500), thromboembolism (omim#188050), and vascular diseases. |
2021-04-30 |
2023-08-13 |
Not clear |
| Hemavathy Nagarajan, Saratha Narayanaswamy, Umashankar Vetrive. Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach. Mutation research. vol 819-820. 2020-04-22. PMID:31968288. |
therefore, mutations in mthfr leads to its dysfunction resulting in conditions like homocystinuria, cardiovascular diseases, and neural tube defects in infants. |
2020-04-22 |
2023-08-13 |
human |
| Hemavathy Nagarajan, Saratha Narayanaswamy, Umashankar Vetrive. Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach. Mutation research. vol 819-820. 2020-04-22. PMID:31968288. |
hence, in this study, we intend to explore the mutational landscape of human mthfr isoform-1 (h.mthfr-1) to decipher the most pathogenic variants pertaining to homocystinuria. |
2020-04-22 |
2023-08-13 |
human |
| Patricie Burda, Terttu Suormala, Dorothea Heuberger, Alexandra Schäfer, Brian Fowler, D Sean Froese, Matthias R Baumgartne. Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. Journal of inherited metabolic disease. vol 40. issue 2. 2017-12-07. PMID:27743313. |
severe mthfr deficiency is the most common inborn error of folate metabolism, resulting in hyperhomocysteinemia and homocystinuria. |
2017-12-07 |
2023-08-13 |
human |
| Brooke Levenseller Levin, Elizabeth Varg. MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature. Journal of genetic counseling. vol 25. issue 5. 2017-09-20. PMID:27130656. |
rare mutations in the mthfr gene have been associated with autosomal recessive mthfr deficiency leading to homocystinuria. |
2017-09-20 |
2023-08-13 |
Not clear |
| Renata H Bahous, Nafisa M Jadavji, Liyuan Deng, Marta Cosín-Tomás, Jessica Lu, Olga Malysheva, Kit-Yi Leung, Ming-Kai Ho, Mercè Pallàs, Perla Kaliman, Nicholas D E Greene, Barry J Bedell, Marie A Caudill, Rima Roze. High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring. Human molecular genetics. vol 26. issue 5. 2017-05-15. PMID:28069796. |
severe mthfr deficiency results in homocystinuria and neurologic impairment. |
2017-05-15 |
2023-08-13 |
mouse |
| Eva Richard, Lourdes R Desviat, Magdalena Ugarte, Belén Pére. Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects. Journal of cellular biochemistry. vol 114. issue 1. 2013-04-22. PMID:22887477. |
in this work, we have evaluated several parameters related to oxidative stress and apoptosis in fibroblasts from patients with homocystinuria due to defects in the mtr, mtrr, and mthfr genes involved in the remethylation pathway of homocysteine. |
2013-04-22 |
2023-08-12 |
Not clear |
| Halim Yilmaz, Gulten Erkin, Haluk Gumus, Lutfiye Nalban. Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report. Case reports in neurological medicine. vol 2013. 2013-03-28. PMID:23533858. |
several mutations seen in methylenetetrahydrofolate reductase (mthfr) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. |
2013-03-28 |
2023-08-12 |
Not clear |