Results 231 to 240 of about 1,446,122 (309)

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Zuranolone in Postpartum Depression: Mechanistic Innovation, Clinical Evidence, and Translational Uncertainty. [PDF]

Cureus
Zavaleta-Monestel E, Herrera-Jiménez LG, González-Aguilar K, Mora-Jiménez J, Millán González R.   +4 more
europepmc   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Occupational health challenges faced by female anaesthesiologists: a scoping review. [PDF]

BJA Open
Chan S, Mathew L, Schilling A, Kraus M, Malinzak E, Patel AM.   +5 more
europepmc   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +1 more source

The association of a team management model based on Timing It Right theory with outcomes after cesarean section. [PDF]

Medicine (Baltimore)
Wang X, Zhang Y, Ren S, Zhao Y.
europepmc   +1 more source

Female sexual dysfunction is independently associated with depressive symptom burden in premenopausal pelvic floor clinic patients: a cross-sectional analysis. [PDF]

BMC Womens Health
Li M, Liu Y, Mo D, Li J, He J, Li T.
europepmc   +1 more source

Milk BHB Heritability Estimates and Genetic Correlations with Milk Yield in Grazing Dairies in Chile. [PDF]

JDS Commun
Tao G, Cai M, Melendez P.
europepmc   +1 more source

Identification of candidate genes and metabolites associated with lactation performance in Kazakh mares using blood multi-omics and machine learning. [PDF]

BMC Genomics
Meng C, Luo P, Ren W, Xie X, Zeng Y, Wang J, Yao X, Meng J.   +7 more
europepmc   +1 more source