Results 81 to 90 of about 452,408 (160)

Vitamin B12 and Reproductive Health: Clinical Insights, Emerging Mechanistic Understanding, and Nutritional Aspects

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT Epidemiological data from assisted reproductive technologies (ART) link vitamin B12 (VitB12) deficiency to shorter gestation, low birth weight, and reduced live birth rates. VitB12 also plays a critical role in fertility for both sexes by supporting gamete quality.
Aimee Rachel Mathew, Erisa Selita, Chiara Regano, Claudia Bianco, Veronica Corsetti, Virve Cavallucci, Sandra Moreno, Ada Maria Tata, Marco Fidaleo   +8 more
wiley   +1 more source

DataSheet2_Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.docx

, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv (8556204), Huimin Zhu (1700296), Lili Liang (2862176), Lingqian Wu (165613), Lianshu Han (346650), Weijuan Wu (11917493), Xin Chen (14149), Desheng Liang (9854), Yanling Teng (150096), Zhuo Li (165589)   +9 more
core   +1 more source

Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.

, 2008
BACKGROUND: Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities.
Matthieu, J.M., Borruat, F.X., Gaillard, M.C.   +2 more
core   +1 more source

DataSheet1_Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.docx

, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv (8556204), Huimin Zhu (1700296), Lili Liang (2862176), Lingqian Wu (165613), Lianshu Han (346650), Weijuan Wu (11917493), Xin Chen (14149), Desheng Liang (9854), Yanling Teng (150096), Zhuo Li (165589)   +9 more
core   +1 more source

Molecular mechanisms of promoter silencing by transcriptional readthrough

Cell Reports
Summary: Transcriptional interference is the in cis suppression of one transcriptional process by another. To define the mechanisms by which transcriptional readthrough is converted into stable gene silencing, we develop a mouse cell line model of ...
Gerry A. Shipman, Erika Walback, Andy García González, Cynthia Horth, Michel Gravel, Eric Bareke, Jacek Majewski   +6 more
doaj   +1 more source

DataSheet3_Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.docx

, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv (8556204), Huimin Zhu (1700296), Lili Liang (2862176), Lingqian Wu (165613), Lianshu Han (346650), Weijuan Wu (11917493), Xin Chen (14149), Desheng Liang (9854), Yanling Teng (150096), Zhuo Li (165589)   +9 more
core   +1 more source

Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.

Introduction Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult.
Serrano Moreno, Clara, Miguélez, María, Arhip, Loredana, Cuerda Compes, María Cristina, Romero, Inmaculada, Motilla, Marta, Brox-Torrecilla, Noemi, Cuerda, Cristina, Serrano-Moreno, Clara   +8 more
core   +1 more source

68 | RESILIENCE ASSOCIATED WITH DEFECTS IN VITAMIN B12 METABOLISM: BALANCING BETWEEN HOMEOSTASIS AND DISEASE

European Journal of Histochemistry
CblC deficiency is an inborn error of intracellular Vitamin B12 (B12) metabolism caused by loss-of-function mutations in the MMACHC gene leading to metabolic decompensation, including homocysteine (Hcy) accumulation [1,2].
GEI - SOCIETÀ ITALIANA DI BIOLOGIA DELLO SVILUPPO E DELLA CELLULA
doaj   +1 more source

Figure S1, Figure S2 from Upregulation of E3 Ubiquitin Ligase CBLC Enhances EGFR Dysregulation and Signaling in Lung Adenocarcinoma

, 2018
Figure S1- CBLC expression is upregulated in NSCLC cell lines and clinical patients. Figure S2- Negative correlation between CBLC promoter methylation and mRNA expression in TCGA LUAD and LUSC studies.
Yu-Rung Kao (14899127), Te-Chang Lee (15127), Shiao-Ya Hong (14945308), Cheng-Wen Wu (656139)   +3 more
core   +1 more source

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre

Molecular Genetics and Metabolism Reports
Background: Hyperhomocysteinemia is a group of inherited homocysteine metabolism disorders characterised by elevated blood homocysteine levels (total homocysteine >15 μM).
Mays R. Al-Tai, Adel A. Kareem, Nebal W. Saadi, Tawfig Ben Omran, Ban A. Abdul Majeed, Ibrahim F. Ibrahim, Lamia A. Alattar   +6 more
doaj   +1 more source