Results 121 to 130 of about 3,950 (204)

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study

Clinical Genetics, Volume 106, Issue 6, Page 733-744, December 2024.
The epidemiological study of 1351 Chinese patients with mitochondrial disease reveals that the most prevalent phenotypes are mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes (MELAS), chronic progressive external ophthalmoplegia (CPEO), and Leigh syndrome. Additionally, the study identified several rare phenotypes.
Yang Zhao, Xutong Zhao, Kunqian Ji, Junling Wang, Yuying Zhao, Jie Lin, Qiang Gang, Meng Yu, Yun Yuan, Haishan Jiang, Chong Sun, Fang Fang, Chuanzhu Yan, Zhaoxia Wang   +13 more
wiley   +1 more source

Tafazzin (TAZ) promotes the tumorigenicity of cervical cancer cells and inhibits apoptosis

PLOS ONE, 2017
Tafazzin (TAZ) is often aberrantly expressed in some cancers, including rectal cancer and thyroid neoplasms. However, the function of TAZ in cervical cancer cells remains unknown. This study aims to explore the expression and function of TAZ in cervical cancer cells.
Mei Chen, Yuan Zhang, Peng-Sheng Zheng
openaire   +4 more sources

Cardiomyopathy: pathogenesis and therapeutic interventions

MedComm, Volume 5, Issue 11, November 2024.
Cardiomyopathy is a group of diseases characterized by structural and functional damage to the myocardium. Many specific gene mutations, environmental factors, and metabolic disorders may cause cardiomyopathy. Traditional therapeutic includes drug and surgery. With the growing comprehension of the molecular mechanisms underlying cardiomyopathy.
Shitong Huang, Jiaxin Li, Qiuying Li, Qiuyu Wang, Xianwu Zhou, Jimei Chen, Xuanhui Chen, Abdelouahab Bellou, Jian Zhuang, Liming Lei   +9 more
wiley   +1 more source

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2015
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling   +13 more
doaj   +1 more source

Cardiolipin biosynthesis and remodeling enzymes are altered during development of heart failure

Journal of Lipid Research, 2009
Cardiolipin (CL) is responsible for modulation of activities of various enzymes involved in oxidative phosphorylation. Although energy production decreases in heart failure (HF), regulation of cardiolipin during HF development is unknown.
Harjot K. Saini-Chohan, Michael G. Holmes, Adam J. Chicco, William A. Taylor, Russell L. Moore, Sylvia A. McCune, Diane L. Hickson-Bick, Grant M. Hatch, Genevieve C. Sparagna   +8 more
doaj   +1 more source

A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data [PDF]

, 2015
Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to a ect approximately 36 individuals per 100,000 individuals.
Bland, Calvert, Egenvall, Hayes, Hershberger, Ingles, Janssens, Mausberg, McNally, Meurs, Meurs, Owczarek-Lipska, Papa, Parker, Pencina, Philipp, Philipp, Philipp, Posafalvi, Proschowsky, Rampersaud, Shinbane, Singletary, Strange, Summerfield, Wess, Wiersma, Xu   +27 more
core   +6 more sources

Multiple genetic associations with Irish wolfhound dilated cardiomyopathy [PDF]

, 2016
Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH) is one of the most commonly affected breeds and one of the few breeds with genetic ...
Brownlie, Serena, Cobb, Malcolm, Dunning, Mark D., Godden, Megan, Mongan, Nigel P., Patel, Janika, Rutland, Catrin S., Simpson, Siobhan   +7 more
core   +3 more sources

Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2015
Mutations in the tafazzin ( TAZ ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial ...
Minal Borkar PhD, Sunita Bijarnia-Mahay DCH, DNB, MD, Sudha Kohli PhD, Monica Juneja MD, Yogesh Srivastava M.Sc, Renu Saxena PhD, Ishwar C. Verma FRCP   +6 more
doaj   +1 more source

Relations structure/fonction de la dynamine mitochondriale Msp1 : étude de ses relations avec la membrane interne et de ses activités biochimiques [PDF]

, 2011
La dynamique mitochondriale est définie comme un équilibre entre des forces antagonistes de fusion et de fission des membranes qui modulent la morphologie des mitochondries et jouent un rôle majeur dans la régulation des fonctions de l'organelle.
Diot, Alan
core  

New clinical and molecular insights on Barth syndrome. [PDF]

, 2013
BACKGROUND: Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria.
Bertini, E, Catarzi, S, Cooper, Dn, Donati, Ma, Ferri, L, Funghini, S, Guerrini, Renzo, Lugli, L, Malvagia, S, Morrone, Amelia, Ragni, L, Vaz, Fm   +11 more
core   +2 more sources