Results 81 to 90 of about 7,772 (216)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Genetic Relationship amongst Marica, Kacang Goat and Capra species

International Journal of Agriculture System, 2015
Marica goat is an endemic species that can be found only in South Sulawesi, Indonesia. It has been reported by the FAO as endangered species because its number of population has been significantly decreased. Domestication by local people has been done by
Rosdiana Ngitung, Herry Sonjaya, Syamsuddin Hasan, Wempie Wempie   +3 more
doaj   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Genetic Diversity and Population Structure of Amphidromous Goby (Stiphodon semoni) in Western Part of Southern Java Waters

Jurnal Ilmiah Perikanan dan Kelautan
Graphical Abstract Research Highlight • The genetic diversity of Stiphodon semoni is high. • All populations have high haplotype diversity except for Cimaja. • No genetic structure is observed within the populations of semoni. • The population
Ahmad Romdon, Charles P. H. Simanjuntak, Sulistiono, Augy Syahailatua   +3 more
doaj  

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Chronic alcohol consumption compromises gut barrier integrity and promotes endotoxemia: Implications for sepsis susceptibility in immunocompromised hosts

Animal Models and Experimental Medicine, EarlyView.
Chronic alcohol exposure disrupts intestinal barrier integrity, resulting in a leaky gut and enhanced translocation of lipopolysaccharide (LPS) and microbial products into the systemic circulation. Alcohol‐induced endotoxemia drives exaggerated pro‐inflammatory responses, mitochondrial damage, and activation of the cGAS–STING pathway, particularly in ...
Thansita Bhunyakarnjanarat, Chatsuree Suksamai, Dhammika Leshan Wannigama, Kent Doi, Wiwat Chancharoenthana, Asada Leelahavanichkul   +5 more
wiley   +1 more source

Oxidative stress triggers neuronal injury and mouse pain sensitization by up-regulating TDP-43 to activate mtDNA-cGAS/STING pathway

陆军军医大学学报
Objective To investigate the role and possible mechanisms of transactive response DNA binding protein 43 (TDP-43) in mediating neuronal injury induced by oxidative stress in mouse neuro-2a (N2a) cells and mouse pain sensitization.
LI Li, HUANG Penghui, CUI Jian
doaj   +1 more source

The mitochondrial genome of Cavia aperea

Mitochondrial DNA. Part B. Resources, 2020
Cavia aperea is a wild guinea pig found throughout South America. The previously published mitochondrial sequence for C. aperea was highly divergent from the C. porcellus sequence and contained stop codons within open reading frames.
Azizia Wahedi, Anja Günther, Alexandra Weyrich, Neal Sondheimer   +3 more
doaj   +1 more source

Reduction of Ribonucleotide Reductase Subunit RRM2 Potentially Impairs Gut Function of Woody Breast Broilers

Animal Research and One Health, EarlyView.
Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri, Elizabeth Ziabtchenko, Janghan Choi, Caitlin E. Harris, Richard J. Buhr, Trevor R. Mitchell, Byungwhi Kong, Hong Zhuang, Brian Bowker   +8 more
wiley   +1 more source

Genetic identification of a non-native species introgression into wild population of the field cricket Gryllus campestris (Orthoptera: Gryllidae) in Central Europe

European Journal of Entomology, 2016
Two species of the genus Gryllus occur in Europe: G. campestris and G. bimaculatus. The first is widely distributed in the north-western Palaearctic, while the second, G. bimaculatus, occurs predominantly in the Mediterranean area.
Hanna PANAGIOTOPOULOU, Mateusz BACA, Katarzyna BACA, Paweł SIENKIEWICZ, Piotr ŚLIPIŃSKI, Michał ŻMIHORSKI   +5 more
doaj   +1 more source