Results 161 to 170 of about 166,442 (338)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes [PDF]

, 2003
The presence of a genetic component in longevity is well known. Here, the association of a mtDNA mutation with a prolonged life span in humans was investigated.
Asin-Cayuela, Jordi, Attardi, Giuseppe, Bonafé, Massimiliano, De Benedictis, Giovanna, Fish, Jennifer, Franceschi, Claudio, Michikawa, Yuichi, Olivieri, Fabiola, Passarino, Giuseppe, Zhang, Jin   +9 more
core  

HMGA2 drives the IGFBP1/AKT pathway to counteract the increase in P27KIP1 protein levels in mtDNA/RNA‐less cancer cells [PDF]

, 2022
Tsuyoshi Maruyama, Koji Saito, Masato Higurashi, Fumihiro Ishikawa, Yohko Kohno, Kazunori Mori, Motoko Shibanuma   +6 more
openalex   +1 more source

Advances in Double‐Stranded DNA Targeting Technologies

Exploration, EarlyView.
Double‐stranded DNA (dsDNA) plays a crucial role in genetic information storage and disease management, but its inherent stability limits access to internal bases. To overcome this challenge, various high‐specificity molecular targeting technologies have been developed to destabilize the DNA structure.
Zuhao Shen, Yiqun Liu, Yingjie Hao, Yifan Bo, Xiaochuan Dai, Shihui Wang, Tian Xia, Xin Su, Huiyu Liu   +8 more
wiley   +1 more source

PCR-RFLP analysis of cpDNA and mtDNA in the genus Houttuynia in some areas of China

, 2006
Wei Wu, Youliang Zheng, Chen Li, Wei Yuming, Yan Zehong, Ruiwu Yang   +5 more
openalex   +1 more source

Response: Point Mutations Are Causing Progeroid Phenotypes in the mtDNA Mutator Mouse [PDF]

, 2010
Daniel Edgar, Nils‐Göran Larsson, Aleksandra Trifunović   +2 more
openalex   +1 more source

Mitochondrial diseases and mtDNA editing

Genes & Diseases
Mitochondrial diseases are a heterogeneous group of inherited disorders characterized by mitochondrial dysfunction, and these diseases are often severe or even fatal. Mitochondrial diseases are often caused by mitochondrial DNA mutations. Currently, there is no curative treatment for patients with pathogenic mitochondrial DNA mutations.
Min Song, Lingqun Ye, Yongjin Yan, Xuechun Li, Xinglong Han, Shijun Hu, Miao Yu   +6 more
openaire   +3 more sources

Large-scale detection and analysis of RNA editing in grape mtDNA by RNA deep-sequencing [PDF]

, 2010
Ernesto Picardi, David S. Horner, Matteo Chiara, Riccardo Schiavon, Giorgio Valle, Graziano Pesole   +5 more
openalex   +1 more source

Phylogeography of New Zealand’s coastal benthos [PDF]

, 2009
During the past 30 years, 42 molecular studies have been undertaken in New Zealand to examine the phylogeography of coastal benthic invertebrates and plants. Here, we identify generalities and/or patterns that have emerged from this research and consider
Hogg, Ian D., Lundquist, Carolyn J., Pilditch, Conrad A., Ross, Philip M.   +3 more
core   +1 more source

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng, Xiao Han, Congquan Wu, Qiaowen Lu, Shujun Gao   +4 more
wiley   +1 more source