Results 21 to 30 of about 8,072 (166)

Genome-wide investigation of DNA methylation marks associated with FV Leiden mutation. [PDF]

PLoS ONE, 2014
In order to investigate whether DNA methylation marks could contribute to the incomplete penetrance of the FV Leiden mutation, a major genetic risk factor for venous thrombosis (VT), we measured genome-wide DNA methylation levels in peripheral blood ...
Dylan Aïssi, Jessica Dennis, Martin Ladouceur, Vinh Truong, Nora Zwingerman, Ares Rocanin-Arjo, Marine Germain, Tara A Paton, Pierre-Emmanuel Morange, France Gagnon, David-Alexandre Trégouët   +10 more
doaj   +2 more sources

Novel Homozygous Variant in the SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia Syndrome: A Disease to Be Considered in Diabetes Clinics

Endocrinology Research and Practice
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare syndrome with an autosomal recessive manner that develops due to a mutation in the SLC19A2gene.
Burcak Cavnar Helvaci, Hanife Saat, Sema Hepsen, Özant Helvaci, Erman Cakal   +4 more
doaj   +4 more sources

RNA Sequencing of Intestinal Enterocytes Pre- and Post-Roux-en-Y Gastric Bypass Reveals Alteration in Gene Expression Related to Enterocyte Differentiation, Restitution, and Obesity with Regulation by Schlafen 12

Cells, 2022
Background: The intestinal lining renews itself in a programmed fashion that can be affected by adaptation to surgical procedures such as gastric bypass. Methods: To assess adaptive mechanisms in the human intestine after Roux-en-Y gastric bypass (RYGB),
Emilie E. Vomhof-DeKrey, Sonalika Singhal, Sandeep K. Singhal, Allie D. Stover, Odele Rajpathy, Elizabeth Preszler, Luis Garcia, Marc D. Basson   +7 more
doaj   +2 more sources

A Systems Hypothesis of Lipopolysaccharide-Induced Vitamin Transport Suppression and Metabolic Reprogramming in Autism Spectrum Disorders: An Open Call for Validation and Therapeutic Translation [PDF]

Metabolites
Background: Autism spectrum disorder (ASD) is increasingly linked to systemic metabolic dysfunction, potentially influenced by gut–brain axis dysregulation, but the underlying mechanisms remain unclear. Methods: We developed Personalized Metabolic Margin
Albion Dervishi
doaj   +2 more sources

Arrhythmia in thiamine responsive megaloblastic anemia syndrome [PDF]

The Turkish Journal of Pediatrics, 2018
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness.
Mustafa Argun, Ali Baykan, Nihal Hatipoğlu, Leyla Akın, Yavuz Şahin, Nazmi Narin, Selim Kurtoğlu   +6 more
doaj   +2 more sources

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness [PDF]

The Turkish Journal of Pediatrics, 2009
Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss.
Hasan Onal, Safa Bariş, Mine Ozdil, Gözde Yeşil, Gürkan Altun, Isa Ozyilmaz, Ahmet Aydin, Tiraje Celkan   +7 more
doaj   +3 more sources

Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation [PDF]

Journal of Otology
Thiamine responsive megaloblastic anemia (TRMA), also known as Roger's syndrome, is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests
Hetal Marfatia, Anoushka Sahai, Kartik Narkhede, Monankita Sharma   +3 more
doaj   +2 more sources

Precision treatment of beta-cell monogenic diabetes: a systematic review [PDF]

Communications Medicine
Background Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A- and HNF1B-diabetes, and mitochondrial diabetes (MD ...
Rochelle N. Naylor, Kashyap A. Patel, Jarno L. T. Kettunen, Jonna M. E. Männistö, Julie Støy, Jacques Beltrand, Michel Polak, ADA/EASD PMDI, Tina Vilsbøll, Siri A. W. Greeley, Andrew T. Hattersley, Tiinamaija Tuomi   +11 more
doaj   +3 more sources

Changes in the gut microbiome, metabolic pathways, and intestinal gene expression during the peak, mid, and decline egg production phases in laying hens [PDF]

Poultry Science
The decline in egg production due to aging poses a significant challenge for the egg industry. This study investigated the cecal microbiota, predicted metabolic pathways, and ileal gene expression to clarify how gut health, nutrient availability, and ...
Md Ahosanul Haque Shahid, Rajesh Jha, Birendra Mishra   +2 more
doaj   +2 more sources

Thiamine responsive megaloblastic anemia: a novelSLC19A2compound heterozygous mutation in two siblings

Pediatric Diabetes, 2013
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes.
Enza Mozzillo, Daniela Melis, Mariateresa Falco, Valentina Fattorusso, Roberta Taurisano, Sarah E Flanagan, Sian Ellard, Adriana Franzese   +7 more
openaire   +2 more sources