Results 11 to 20 of about 2,618 (150)

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant [PDF]

International Journal of Molecular Sciences
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the TYMP gene, typically characterized by severe and progressive gastrointestinal and neurological manifestations.
Ferruccio Santini, Franco Ricci, Elena Procopio   +2 more
exaly   +3 more sources

Thymidine Phosphorylase Deficiency or Inhibition Preserves Cardiac Function in Mice With Acute Myocardial Infarction

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Ischemic cardiovascular disease is the leading cause of death worldwide. Current pharmacologic therapy has multiple limitations, and patients remain symptomatic despite maximal medical therapies.
Lili Du, Hong Yue, Boyd R. Rorabaugh, Oliver Q. Y. Li, Autumn R. DeHart, Gretel Toloza‐Alvarez, Liang Hong, James Denvir, Ellen Thompson, Wei Li   +9 more
doaj   +2 more sources

Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy

BMJ Neurology Open, 2022
Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a rare multisystem disorder that mainly affects the digestive and nervous systems. Key features of the disease include cachexia, ptosis, external ophthalmoplegia, peripheral
Syed Asfand Yar Shah, Hassan Abdullah Shakeel, Wajih Ul Hassan   +2 more
doaj   +2 more sources

Targeting thymidine phosphorylase as a potential therapy for bone loss associated with periprosthetic osteolysis

Bioengineering & Translational Medicine, 2021
Macrophages are generally thought to play a key role in the pathogenesis of aseptic loosening through initiating periprosthetic inflammation and pathological bone resorption.
Gen Matsumae, Tomohiro Shimizu, Yuan Tian, Daisuke Takahashi, Taku Ebata, Hend Alhasan, Shunichi Yokota, Ken Kadoya, Mohamad Alaa Terkawi, Norimasa Iwasaki   +9 more
doaj   +2 more sources

Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes [PDF]

BMC Medicine, 2022
Background Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of the deoxyribonucleosides, thymidine and 2′-deoxyuridine, to thymine and uracil ...
Jérémie Gautheron, Lara Lima, Baris Akinci, Jamila Zammouri, Martine Auclair, Sema Kalkan Ucar, Samim Ozen, Canan Altay, Bridget E. Bax, Ivan Nemazanyy, Véronique Lenoir, Carina Prip-Buus, Cécile Acquaviva-Bourdain, Olivier Lascols, Bruno Fève, Corinne Vigouroux, Esther Noel, Isabelle Jéru   +17 more
doaj   +2 more sources

WARS1, TYMP and GBP1 display a distinctive microcirculation pattern by immunohistochemistry during antibody-mediated rejection in kidney transplantation

Scientific Reports, 2022
Antibody-mediated rejection (ABMR) is the leading cause of allograft failure in kidney transplantation. Defined by the Banff classification, its gold standard diagnosis remains a challenge, with limited inter-observer reproducibility of the histological ...
Bertrand Chauveau, Antoine Garric, Sylvaine Di Tommaso, Anne-Aurélie Raymond, Jonathan Visentin, Agathe Vermorel, Nathalie Dugot-Senant, Julie Déchanet-Merville, Jean-Paul Duong Van Huyen, Marion Rabant, Lionel Couzi, Frédéric Saltel, Pierre Merville   +12 more
doaj   +2 more sources

Thymidine phosphorylase facilitates retinoic acid inducible gene-I induced endothelial dysfunction

Cell Death and Disease, 2023
Activation of nucleic acid sensors in endothelial cells (ECs) has been shown to drive inflammation across pathologies including cancer, atherosclerosis and obesity.
Adrian Baris, Eugenia Fraile-Bethencourt, Jaiden Eubanks, Sokchea Khou, Sudarshan Anand   +4 more
doaj   +2 more sources

Spatial Transcriptomics Reveals Transcriptomic and Immune Microenvironment Reprogramming during Thyroid Carcinoma Dedifferentiation [PDF]

Advanced Science
Anaplastic thyroid carcinoma (ATC) is one of the most lethal human malignancies, often evolving from differentiated thyroid carcinoma (DTC) through a poorly understood dedifferentiation process.
Kang Ning, Bu Zou, Yongchao Yu, Taonong Cai, Zhenyu Luo, Yu Guo, Yi Wu, Xiujiao Shen, Hao Li, Mengyuan Fang, Jian Bu, Han Hong, Zan Jiao, Tong Wu, Yulong Wang, Tianrun Liu, Weichao Chen, Wanming Hu, Mingjie Jiang, Ankui Yang   +19 more
doaj   +2 more sources

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis [PDF]

Case Reports in Neurology, 2012
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Mauro Scarpelli, Anna Russignan, Melinda Zombor, Csaba Bereczki, Francesca Zappini, Romina Buono, Bridget E. Bax, Alessandro Padovani, Paola Tonin, Massimiliano Filosto   +9 more
doaj   +2 more sources

Proteomics unveil candidate biomarkers and pathogenesis of subacute thyroiditis [PDF]

Endocrine Connections
Subacute thyroiditis (SAT) is an inflammatory thyroid disease characterized by neck pain, tenderness, general symptoms and thyroid dysfunction. Despite gaining new insights into the epidemiology, pathogenesis and treatment of SAT in recent years, the ...
Litong Ran, Xiufei Liu, Yongfeng Tian, Jiaran Zhu, Zhengyuan Gong, Qiao Qiao, Xin Jiang, Yuren Wang, Guojun Yang, Hongting Zheng, Yi Zheng, Hua Qu   +11 more
doaj   +2 more sources