Results 11 to 20 of about 2,699,597 (146)

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome [PDF]

The Turkish Journal of Pediatrics, 2019
Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus.
Gezdirici, Alper, Ersoy, Gizem, Salcioglu, Zafer, Hasan Önal, Onal, Hasan, Kucukemre-Aydin, Banu, Aydogan, Gonul, Zafer Şalcıoğlu, Odaman-Al, Isik, Tuba Nur Tahtakesen, Banu Küçükemre-Aydın, Alper Gezdirici, Işık Odaman-Al, Gizem Ersoy, Melek Yıldız, Tahtakesen, Tuba Nur, Yildiz, Melek, Gönül Aydoğan   +17 more
core   +7 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.
Hepsen, Sema, Burak Canvar Helvacı, Erman Çakal, Cakal, Erman, Saat, HANİFE, Hanife Saat, Helvaci, Burcak Cavnar, Özant Helvacı, HELVACI, ÖZANT, Sema Hepsen   +9 more
core   +6 more sources

Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation. [PDF]

Iran J Child Neurol, 2018
Here we report a 5-month-old boy with thiamine Responsive Megaloblastic Anemia syndrome (TRMA syndrome) with several attacks of stroke. In addition to the cardinal clinical manifestations of the syndrome (thiamine-responsive megaloblastic anemia ...
Karimzadeh P, Moosavian T, Moosavian H.
europepmc   +3 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.
Baris, Safa, Yesil, Goezde, Celkan, Tülin Tıraje, Ozdil, Mine, ONAL, Hasan, Ozyilmaz, Isa, Aydin, Ahmet, Altun, Guerkan   +7 more
core   +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),
Preszler, Elizabeth, Stover, Allie D., Garcia, Luis, Sandeep K. Singhal, Singhal, Sonalika, Basson, Marc D., Emilie E. Vomhof-DeKrey, Singhal, Sandeep K., Sonalika Singhal, Marc D. Basson, Rajpathy, Odele, Elizabeth Preszler, Luis Garcia, Vomhof-DeKrey, Emilie E., Allie D. Stover, Odele Rajpathy   +15 more
core   +2 more sources

Deciphering hub genes and immune landscapes related to neutrophil extracellular traps in rheumatoid arthritis: insights from integrated bioinformatics analyses and experiments. [PDF]

Front Immunol
BackgroundRheumatoid arthritis (RA) is a chronic autoimmune disease characterized by synovial inflammation and progressive joint destruction. Neutrophil extracellular traps (NETs), a microreticular structure formed after neutrophil death, have recently ...
Li Y, Liu J, Sun Y, Hu Y, Zhou Q, Cong C, Chen Y.   +6 more
europepmc   +4 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.
Argun, Mustafa, Mustafa Argun, Nihal Hatipoğlu, BAYKAN, Ali, Nazmi Narin, Sahin, Yavuz, HATİPOĞLU, Nihal, NARİN, Nazmi, AKIN, Leyla, Yavuz Şahin, Kurtoglu, Selim, Ali Baykan, Leyla Akın, Selim Kurtoğlu   +13 more
core   +3 more sources

Screening potential diagnostic biomarkers for PLA2R‑associated idiopathic membranous nephropathy by WGCNA analysis and LASSO algorithm. [PDF]

Ren Fail
Adult nephrotic syndrome is primarily caused by membranous nephropathy (MN), with idiopathic membranous nephropathy (IMN) being a prominent subtype. The onset of phospholipase A2 receptor (PLA2R1)-associated IMN is critically linked to M-type PLA2R1 ...
Huang J, Huang Y, Zeng X, Zhang Y, Zhang J, Hong Q, Peng Y.   +6 more
europepmc   +3 more sources

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

Indian 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.
Paresh Singhal, Arijit Sen, Ankur Ahuja, Gurpreet Kaur, Renjith Verghese   +4 more
core   +2 more sources

Integrative Bioinformatics-Guided Analysis of Glomerular Transcriptome Implicates Potential Therapeutic Targets and Pathogenesis Mechanisms in IgA Nephropathy. [PDF]

Bioengineering (Basel)
(1) Background: IgA nephropathy (IgAN) is a leading cause of chronic kidney disease worldwide. Despite its prevalence, the molecular mechanisms of IgAN remain poorly understood, partly due to limited research scale. Identifying key genes involved in IgAN’
Yang T, Dai M, Zhang F, Wen W.
europepmc   +2 more sources