Results 41 to 50 of about 291 (129)

Antioxidant supplementation blunts the proteome response to 3 weeks of sprint interval training preferentially in human type 2 muscle fibres

The Journal of Physiology, EarlyView.
Abstract figure legend Sprint interval training (SIT) is a popular time‐efficient type of endurance training. Healthy young men performed nine SIT sessions (4–6 × 30 s all‐out cycling sprints) over 3 weeks while being supplemented with antioxidants (high doses of vitamins C and E) or placebo. Muscle biopsies taken before and after the first SIT session
Victoria L. Wyckelsma, Marta Murgia, Sigitas Kamandulis, Stefano Gastaldello, Marius Brazaitis, Audrius Snieckus, Nerijus Eimantas, Mati Pääsuke, Sebastian Edman, William Apro, Daniel C. Andersson, Håkan Westerblad, Tomas Venckunas   +12 more
wiley   +1 more source

Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids

Case Reports in Women's Health, 2017
Objective: To report a diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome following initial presentation with multiple cutaneous lesions. Design: Case report. Design classification: N/A.
Pietro Bortoletto, Jennifer L. Lindsey, Liping Yuan, Bradley J. Quade, Antonio R. Gargiulo, Cynthia C. Morton, Elizabeth A. Stewart, Raymond M. Anchan   +7 more
doaj   +1 more source

Case Report: A patient with metastatic fumarate hydratase-deficient renal cell carcinoma associated with leiomyomatosis: real-world clinical insights on systemic therapy and liver-directed SBRT

Frontiers in Oncology
Fumarate hydratase-deficient renal cell carcinoma is a rare type of renal cell carcinoma often associated with hereditary leiomyomatosis and renal cell carcinoma syndrome.
Huili James Chong, Alastair Murray, Kwang Jeat Chong   +2 more
doaj   +1 more source

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

Clinical Case Reports, 2022
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer predisposition syndrome caused by autosomal dominant heterozygous pathogenic variants in the fumarate hydratase (FH) gene.
Keith Franke, Jennie Vagher, Julie Boyle, April Hall, Kelcy Smith‐Simmer   +4 more
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Oncometabolites in Cancer Metabolism: Mechanistic Insights and Biomarker Potential‐ A Narrative Review

Health Science Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background and Aims Cancer cells undergo adaptation in hostile tumor microenvironments and go through extensive metabolic reprogramming for flourishing. Oncogenic transformation caused by mutations in some metabolic enzymes results in the generation of some metabolic intermediates called onco‐metabolites.
Mst. Mohona Khatun, Md. Ashraful Sarker, Munna Kumar Podder, Mohammad Shahangir Biswas, Md. Mahmudul Hasan, Zinat Tamannaa, Md. Nazmul Hossain, Rabeya Sultana Badhon, Mst. Afroja Akter   +8 more
wiley   +1 more source

An atypical case of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)-associated renal cell carcinoma identified by next-generation sequencing

Human Pathology: Case Reports, 2018
Germline mutations in the fumarate hydratase (FH) gene classically lead to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome. Patients with HLRCC typically exhibit multiple cutaneous and uterine leiomyomas at a young age. They also display
Daniel R. Matson, M.D., Ph.D., Molly A. Accola, Ph.D., William M. Rehrauer, Ph.D., Wei Huang, M.D.   +3 more
doaj   +1 more source

Nigericin‐Triggered Phosphodynamics in Inflammasome Formation and Pyroptosis

PROTEOMICS, Volume 26, Issue 8, Page 29-40, August 2026.
ABSTRACT Innate immune signaling relies heavily on phosphorylation cascades to mount effective immune responses. Although traditional innate immune signaling cascades following TLR4 stimulation have been investigated through a temporally quantitative phosphoproteomic lens, far fewer studies have applied these methods to distinct signaling following the
Vanya Bhushan, Clinton J. Bradfield, Sandhini Saha, Sung Hwan Yoon, Iain D. C. Fraser, Aleksandra Nita‐Lazar   +5 more
wiley   +1 more source

Oncometabolite fumarate impairs ATR-CHK1 signaling by succinating RPA1 in fumarate hydratase-deficient renal cell carcinoma cells

Cancer & Metabolism
Background Fumarate hydratase (FH) is a crucial enzyme that converts fumarate to malate in the tricarboxylic acid cycle. FH dysregulation results in abnormal accumulation of oncometabolite fumarate, which drives susceptibility in fumarate hydratase ...
Nian Liu, Changxian Shen, Tingting Zhou, Yu Zhou, Hang Yuan, Hongjie Bi, Yingying Wang, Xinyu Pei, Rui Su, Vijay Trisal, Li Zheng, Yihui Shi, Binghui Shen   +12 more
doaj   +1 more source

The Landscape of Mutations in Human Fumarate Hydratase [PDF]

, 2019
ABSTRACT Fumarate Hydratase (FH) is an enzyme of the citric acid (TCA) cycle that is responsible for reversibly catalysing the conversion between fumarate and malate. FH loss and subsequent buildup of the oncometabolite fumarate causes hereditary leiomyomatosis and renal cell carcinoma.
Shorthouse, David, Hall, Michael W J, Hall, Benjamin A   +2 more
openaire   +1 more source