Results 81 to 90 of about 735,599 (336)

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

Separation and characterization of cardiolipin molecular species by reverse-phase ion pair high-performance liquid chromatography-mass spectrometry1

Journal of Lipid Research, 2010
An improved high-performance liquid chromatography-mass spectrometry method for the separation and characterization of cardiolipin molecular species is presented.
Paul E. Minkler, Charles L. Hoppel
doaj   +1 more source

Cytosolic redox components regulate protein homeostasis via additional localisation in the mitochondrial intermembrane space [PDF]

, 2017
Oxidative protein folding is confined to the bacterial periplasm, endoplasmic reticulum and the mitochondrial intermembrane space. Maintaining a redox balance requires the presence of reductive pathways.
Cardenas-Rodriguez, Mauricio, Tokatlidis, Konstantinos   +1 more
core   +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

Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies

Orphanet Journal of Rare Diseases
Background The POMT2 gene, which encodes protein O-mannosyltransferase 2, is essential for α-dystroglycan glycosylation. Variants in POMT2 cause various disorders, including the relatively rare presentation of limb-girdle muscular dystrophy R14 (LGMDR14).
Guiguan Yang, Xiaoqing Lv, Wenjing Wu, Guangyu Wang, Mengqi Yang, Yifei Feng, Chuanzhu Yan, Meirong Liu, Pengfei Lin   +8 more
doaj   +1 more source