Results 61 to 70 of about 50,342 (212)

Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases

Molecules, 2022
NADH:ubiquinone oxidoreductase core subunit S8 (NDUFS8) is an essential core subunit and component of the iron-sulfur (FeS) fragment of mitochondrial complex I directly involved in the electron transfer process and energy metabolism.
Sifan Wang, Yuanbo Kang, Ruifeng Wang, Junqi Deng, Yupei Yu, Jun Yu, Junpu Wang   +6 more
doaj   +1 more source

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis, Amelia Shoemark, Anthony T Moore, Antony, Bush, Chela T James, Chiara Bacchelli, Claire Hogg, Eddie M K Chung, Elisabeth M Rosser, Fliegauf, Gerard Pals, Gherman, Hannah M Mitchison, Hirst, Hjeij, Hozumi, Jeannette E Danke-Roelse, John J Sloper, Kennedy, Knowles, Loges, Lonergan, Miriam Schmidts, Mitali Patel, Mustafa M Munye, O'Toole, Olbrich, Ong, Onoufriadis, Papon, Peter J Scambler, Philip L Beales, Plagnol, Richard D Emes, Roy, Sarah Hull, Schultz, Shoemark, Speder, Stephen L Hart, Tarkar, Tewari, Xu, Yang, Zhang   +45 more
core   +3 more sources

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source

Molecular basis of Leigh syndrome: a current look

Orphanet Journal of Rare Diseases, 2020
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood.
Manuela Schubert Baldo, Laura Vilarinho
doaj   +1 more source

Hypoglycemia in Mitochondrial Disorders [PDF]

, 2019
INTRODUCTION: The electron transport chain (ETC) in mitochondria functions to produce energy in the form of adenosine triphosphate (ATP). Defects in the mitochondrial or nuclear DNA that codes for components of the ETC lead to mitochondrial disorders ...
Moats, Allison
core   +1 more source

Large-scale analysis of disease pathways in the human interactome

, 2017
Discovering disease pathways, which can be defined as sets of proteins associated with a given disease, is an important problem that has the potential to provide clinically actionable insights for disease diagnosis, prognosis, and treatment ...
Agrawal, Monica, Leskovec, Jure, Zitnik, Marinka   +2 more
core   +1 more source

Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome [PDF]

, 2003
Background: Cowden syndrome (CS) or multiple hamartoma syndrome is a cancer-associated genodermatosis inherited in an autosomal dominant pattern. One of the diagnostic criteria is facial papules which are felt to be trichilemmomas, benign hair follicle ...
Burgdorf, Walter H. C., Itin, Peter H., Lautenschlager, Stephan, Rohwedder, A., Schaller, Jörg   +4 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

A rare mitochondrial disorder: Leigh sydrome - a case report

Italian Journal of Pediatrics, 2010
Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable.
Shrikhande Dhananjay Y, Kalakoti Piyush, Syed MM Aarif, Ahya Kunal, Singh Gurmeet   +4 more
doaj   +1 more source

Law enforcement policies for individuals with intellectual and developmental disabilities: A mixed‐methods analysis

Criminology &Public Policy, EarlyView.
Abstract Research Summary Individuals with intellectual and developmental disabilities (IDDs) face an elevated risk of victimization relative to their peers. Victims with IDD may view police departmental websites or policies to identify available accommodations in deciding to report their experience. The current study employs a convergent mixed‐methods
Cooper A. Maher, Brittany E. Hayes, Martha McCullough, Jacquelyn Burckley, Ráchael A. Powers, Amanda K. Simmons, Leigh Anne McKingsley   +6 more
wiley   +1 more source