Results 61 to 70 of about 533,276 (294)

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis [PDF]

, 2021
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga, Nana Akiyama, Minako Ogawa‐Tominaga, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Imai‐Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama   +19 more
openalex   +1 more source

Mitochondrial DNA and disease

Annals of Medicine, 2005
The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence
Salvatore, Dimauro, Guido, Davidzon
openaire   +2 more sources

Characterizing the salivary RNA landscape to identify potential diagnostic, prognostic, and follow‐up biomarkers for breast cancer

Molecular Oncology, EarlyView.
This study explores salivary RNA for breast cancer (BC) diagnosis, prognosis, and follow‐up. High‐throughput RNA sequencing identified distinct salivary RNA signatures, including novel transcripts, that differentiate BC from healthy controls, characterize histological and molecular subtypes, and indicate lymph node involvement.
Nicholas Rajan, Irina Primac, Emre Etlioglu, Laurens Debruyne, Ann Janssen, Magy Sallam, Kevin Tabury, Roel Quintens, Wiebren Tjalma, Mohammed Abderrafi Benotmane   +9 more
wiley   +1 more source

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

EBioMedicine, 2018
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers.
Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman   +33 more
doaj   +1 more source

Mitochondrial DNA copy number is associated with Crohn’s disease: a comprehensive Mendelian randomization analysis [PDF]

, 2023
Xianlei Cai, Xueying Li, Chao Liang, Miaozun Zhang, Yuan Xu, Zhebin Dong, Yihui Weng, Weiming Yu   +7 more
openalex   +1 more source

Mechanisms of mitochondrial diseases

Annals of Medicine, 2011
Mitochondria are essential organelles with multiple functions, the most well known being the production of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). The mitochondrial diseases are defined by impairment of OXPHOS. They are a diverse group of diseases that can present in virtually any tissue in either adults or children ...
Suomalainen Anu, Ylikallio Emil, Suomalainen Anu, Ylikallio Emil   +3 more
openaire   +2 more sources

Mitochondrial DNA and disease [PDF]

The Journal of Pathology, 2011
AbstractMitochondrial DNA (mtDNA) defects are a relatively common cause of inherited disease and have been implicated in both ageing and cancer. MtDNA encodes essential subunits of the mitochondrial respiratory chain and defects result in impaired oxidative phosphorylation (OXPHOS).
Laura C, Greaves, Amy K, Reeve, Robert W, Taylor, Doug M, Turnbull   +3 more
openaire   +2 more sources

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

Molecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts, Senada Koljenović, Elise Daems, Karolien De Wael, Marc Peeters, Léon C. van Kempen, Greetje Vanhoutte, Karen Zwaenepoel, Timon Vandamme   +8 more
wiley   +1 more source

Sudden unexpected death in asymptomatic infants due to PPA2 variants

Molecular Genetics & Genomic Medicine, 2020
Background Sudden death in children is a tragic event that often remains unexplained after comprehensive investigation. We report two asymptomatic siblings who died unexpectedly at approximately 1 year of age found to have biallelic (compound ...
Colin K. L. Phoon, Matthew Halvorsen, David B. Goldstein, Rachel Rabin, Frank Cecchin, Laura Crandall, Orrin Devinsky   +6 more
doaj   +1 more source