Results 41 to 50 of about 8,072 (166)

Alterations in Skeletal Muscle mRNA Abundance in Response to Ethyl-Cellulose Rumen-Protected Methionine during the Periparturient Period in Dairy Cows

open access: yesAnimals, 2022
This study aimed to evaluate the effect of feeding ethyl cellulose rumen-protected methionine (RPM) on skeletal muscle mRNA abundance during the periparturient period.
Lam Phuoc Thanh   +6 more
doaj   +1 more source

Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia

open access: yesClinica Chimica Acta, 2021
Thiamine-responsive megaloblastic anemia (TRMA), caused by SLC19A2 loss-of-function variants, is characterized by the triad of megaloblastic anemia, progressive sensorineural deafness, and non-type 1 diabetes mellitus. Here, we present the case of a Chinese infant with two novel variants segregating in compound heterozygous form in SLC19A2 and reviewed
Shule, Zhang   +6 more
openaire   +2 more sources

The Role of Nutrient Availability in Therapeutic Response of Leukemia [PDF]

open access: yes, 2021
Tumor environment influences the response to anti-cancer therapy, but which extracellular nutrients impact drug sensitivity is largely unknown. In this work, we used functional genomics to identify metabolic modifiers of the response to L-asparaginase ...
Guarecuco, Rohiverth, Jr.
core   +1 more source

An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia

open access: yesIndian Journal of Pathology and Microbiology
Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness.
Gurpreet Kaur   +4 more
doaj   +1 more source

Alzheimer's disease is associated with disruption in thiamin transport physiology: A potential role for neuroinflammation

open access: yesNeurobiology of Disease, 2022
Alzheimer's disease (AD) is a neurodegenerative disease characterized by Amyloid-β peptide (Aβ) containing plaques and cognitive deficits. The pathophysiology of AD also involves neuroinflammation.
Kalidas Ramamoorthy   +7 more
doaj   +1 more source

Association of rs970740 with SLC19A2 cg1658605, cg0483076 and cg09671955 levels.

open access: yes, 2014
p-values were adjusted for age, sex, batch, chip and cell type composition.In the F5L-families study, the rs970740 was not genotyped but substituted by the proxy rs2420371 that is in complete association (r2 = 1) with it.Association of rs970740 with ...
Pierre-Emmanuel Morange (161602)   +10 more
core   +1 more source

A review of xenobiotic membrane transporter expression within the human placenta: Lessons gained from primary tissue and in vitro methodologies

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend A summary of the current knowledge around membrane transporter expression in the most widely used in vitro models of human trophoblasts, including primary placental tissue, cancer cell lines and trophoblast stem cells, as well as the techniques to attempt to mimic the human placenta in vivo.
Rhiannon Pass   +2 more
wiley   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk   +39 more
wiley   +1 more source

Association(1) of SLC19A2 CpG sites with ACVn (MARTHA) and APCR (F5L-families) phenotypes.

open access: yes, 2014
(1) Association is expressed as % change in phenotype (95% Confidence Interval) for every 0.1 unit increase in methylation β-value.(2) Analysis were adjusted for age, sex, batch, chip and cell type composition.Association(1) of SLC19A2 CpG sites with ...
Pierre-Emmanuel Morange (161602)   +10 more
core   +1 more source

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review

open access: yesHemaSphere, Volume 10, Issue 9, September 2026.
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Alexandros Makis   +2 more
wiley   +1 more source

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