Results 51 to 60 of about 9,115 (202)

Reduced Mitochondrial Adenine Nucleotide Translocase 1 (ANT1) Correlates With Aging‐Associated Airway Remodeling

Aging Cell, Volume 24, Issue 12, December 2025.
Adenine nucleotide translocase 1 (ANT1), a mitochondrial ATP transporter, is decreased in the lung epithelium of aged adults and aged mice correlating to pathogenic airway changes. Loss of ANT1 correlates with increased cellular senescence and changes in COL8A1 in the airway epithelium of the lung.
Roshani Jha, Jian Shi, Maggie J. Sedgwick, Justin Sui, Timothy E. Corcoran, Corrine R. Kliment   +5 more
wiley   +1 more source

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling

Brain and Behavior, Volume 15, Issue 11, November 2025.
We report a 32‐year‐old female patient with SANDO syndrome (a subtype of mitochondrial encephalomyopathy), who carries two heterozygous POLG mutations: a novel c.3297G>C and a known c.1774C>T. The neuronal models expressing these mutations demonstrated mitochondrial dysfunction, thereby confirming their pathogenicity.
Fanjing Zhou, Jiang Chen, Tingzheng Zhang, Fengnan Niu, Jinglong Hu, Yun Xu, Meijuan Zhang   +6 more
wiley   +1 more source

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Definitions, 2020
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of ...

semanticscholar   +1 more source

Three and Four Courses of Radiation for Children With Recurrent Diffuse Intrinsic Pontine Glioma

Pediatric Blood &Cancer, Volume 72, Issue 11, November 2025.
ABSTRACT Purpose Re‐irradiation (RT2) for children with diffuse intrinsic pontine glioma (DIPG) is increasingly used upon recurrence; however, limited data are available for evaluating additional courses of radiotherapy (RT) for DIPG. The purpose of this case series was to report our institutional experience in treating patients with recurrent DIPG ...
Nisha Shariff, Anthony Lausch, Eric Bouffet, Derek S. Tsang   +3 more
wiley   +1 more source

Suspensory materials for surgery of blepharoptosis: a systematic review of observational studies [PDF]

, 2016
Background Frontalis suspension surgery is considered the procedure of choice in cases of blepharoptosis. Among all the materials used in this type of surgery, ophthalmic and plastic surgeons prefer to use autologous Fascia Lata.
Amorelli, Giulia Maria, BOTTONE, Andrea, LA TORRE, Giuseppe, MIPATRINI, DANIELE, PACELLA, Elena, PACELLA, FERNANDA, SMALDONE, GIANPAOLO, TURCHETTI, PAOLO   +7 more
core   +3 more sources

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, Volume 3, Issue 5, September 2025.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source

Mitochondrial disease and endocrine dysfunction [PDF]

, 2017
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking.
Achermann, JC, Chow, J, Dattani, MT, Rahman, J, Rahman, S   +4 more
core  

A diagnostic conundrum [PDF]

, 2018
A 26-year-old man was referred with facial weakness, dysarthria, dysphagia, ophthalmoparesis and severely weak and wasted legs. His symptoms had begun when aged 20 with electric shock pains and paraesthesia in both feet progressing over 6 months to the ...
Brandner, S, Carr, AS, Hanna, MG, Jaunmuktane, Z, Keddie, S, Lunn, MPT, Maddison, P, Rees, JH, Reilly, MM, Rossor, AM, Shah, S   +10 more
core   +1 more source