Results 41 to 50 of about 72,894 (246)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

Phylogenetic Studies on Red Junglefowl (Gallus gallus) and Native Chicken (Gallus gallus domesticus) in Samar Island, Philippines using the Mitochondrial DNA D-Loop Region

The Journal of Poultry Science, 2019
A study was conducted to provide genetic information on the matrilineal phylogeny and genetic diversity of Red junglefowl (RJF) and native chickens in Samar Island, Philippines and to identify the genetic distance between Philippine junglefowls and other
Cyrill John P. Godinez, Masahide Nishibori, Megumi Matsunaga, Dinah M. Espina   +3 more
doaj   +1 more source

Origins and Evolution of the Etruscans’ mtDNA

PLoS ONE, 2013
The Etruscan culture is documented in Etruria, Central Italy, from the 8(th) to the 1(st) century BC. For more than 2,000 years there has been disagreement on the Etruscans' biological origins, whether local or in Anatolia. Genetic affinities with both Tuscan and Anatolian populations have been reported, but so far all attempts have failed to fit the ...
Silvia Ghirotto, Francesca Tassi, Erica Fumagalli, Vincenza Colonna, Anna Sandionigi, LARI, MARTINA, Stefania Vai, Emmanuele Petiti, Giorgio Corti, Ermanno Rizzi, Gianluca De Bellis, CARAMELLI, DAVID, Guido Barbujani   +12 more
openaire   +7 more sources

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

Hepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir, Rui F. Simões, José Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jéru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip‐Buus, Vlad Ratziu, Jérémie Gautheron, Cecília M. P. Rodrigues   +16 more
wiley   +1 more source

The Making of the African mtDNA Landscape [PDF]

The American Journal of Human Genetics, 2002
Africa presents the most complex genetic picture of any continent, with a time depth for mitochondrial DNA (mtDNA) lineages >100,000 years. The most recent widespread demographic shift within the continent was most probably the Bantu dispersals, which archaeological and linguistic evidence suggest originated in West Africa 3,000-4,000 years ago ...
Salas, Antonio, Richards, Martin, De la Fe, Tomás, Lareu, María-Victoria, Sobrino, Beatriz, Sánchez-Diz, Paula, Macaulay, Vincent, Carracedo, Ángel   +7 more
openaire   +2 more sources

Biointegrated Battery‐Based Electroceuticals

Advanced Materials, EarlyView.
Biointegrated batteries go beyond passive power to serve as active therapeutic platforms for delivering programmable electrical cues and bioactive agents. This review examines their mechanisms and applications and provides a framework to guide battery‐based therapeutic design and clinical translation.
Yan Zhou, Zhilian Yue, Zhiqi Chen, Danming Chao, Xiaoteng Jia, Gordon Wallace, Caiyun Wang   +6 more
wiley   +1 more source

The Ancestry of Brazilian mtDNA Lineages [PDF]

The American Journal of Human Genetics, 2000
We have analyzed 247 Brazilian mtDNAs for hypervariable segment (HVS)-I and selected restriction fragment-length-polymorphism sites, to assess their ancestry in different continents. The total sample showed nearly equal amounts of Native American, African, and European matrilineal genetic contribution but with regional differences within Brazil.
Alves-Silva, Juliana, da Silva Santos, Magda, Guimarães, Pedro E.M., Ferreira, Alessandro C.S., Bandelt, Hans-Jürgen, Pena, Sérgio D.J., Prado, Vania Ferreira   +6 more
openaire   +2 more sources

Negotiating in a Foreign Land: Understanding the Curious Interactions Between Intracellular Mitochondria and Internalized Nanoparticles

Advanced Materials Interfaces, EarlyView.
Therapeutic nano‐drug delivery systems interact with cellular mitochondria in a multitude of ways. While the complexity of such interactions disrupts the mitochondrial electron transport chain and increases reactive oxygen species production, thereby contributing to nanoparticle toxicity, they also present unique theranostic opportunities in diseases ...
Sourav Bhattacharjee
wiley   +1 more source