Results 111 to 120 of about 10,093 (210)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Lactate metabolism and protein lactylation in programmed cell death: From novel mechanism to therapeutic strategies in human diseases

Clinical and Translational Medicine, Volume 16, Issue 10, October 2026.
This review highlights protein lactylation as a metabolic‐epigenetic regulator linking lactate reprogramming to programmed cell death. By modulating histone and non‐histone targets, lactylation reshapes cell fate decisions and represents a promising biomarker and therapeutic target in human diseases.
Yue Chen, Xiwen Wang, Xiuping Wang, Na Lin, Wenjie Wang, Ruiqi Fu, Yutong Wu, Yi Liu, Hengwei Liu   +8 more
wiley   +1 more source

Predictors for intrapartum cesarean delivery after labor induction for suspected fetal growth restriction at term

International Journal of Gynecology &Obstetrics, Volume 175, Issue 1, Page 249-256, October 2026.
Abstract Objective In term pregnancies with suspected fetal growth restriction (FGR) undergoing induction of labor (IOL), predictors for intrapartum cesarean delivery (CD) remain unclear. We aimed to determine predictors for intrapartum CD in this population. Methods This study included a retrospective cohort of singleton pregnancies undergoing IOL at ≥
Matan Anteby, Yael Reichman, Alon Bar‐Or, Jacky Herzlich, Stav Cohen, Karina Krajden Haratz, Anat Lavie, Liran Hiersch, Yariv Yogev   +8 more
wiley   +1 more source

Acute Neurological Manifestations in COVID‐19 Are Associated With Complement Activation and Glia‐Promoted Neuroinflammation

Journal of Medical Virology, Volume 98, Issue 10, October 2026.
ABSTRACT Pathophysiological mechanisms of neurological manifestations in COVID‐19 are not fully known yet. In this case‐control study, proteomic analysis was used to characterize cerebrospinal fluid (CSF) samples from COVID‐19 patients with acute neurological manifestations primarily categorized as: isolated refractory headache (n = 12), encephalopathy
Nicole Lardini Freitas, Yago Côrtes Pinheiro Gomes, Fábio César Sousa Nogueira, Juliana Echevarria‐Lima, João Victor Carvalho Deus, Carlos Otávio Brandão, Cristiane Nascimento Soares, Marcus Tulius Teixeira Silva, Otávio Melo Espíndola   +8 more
wiley   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source

Posterior Reversible Encephalopathy Syndrome in a Postpartum Patient With Eclampsia. [PDF]

Cureus
Abu-Nayla U, Alabdi N.
europepmc   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, Volume 46, Issue 11, Page 1732-1745, October 2026.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, Volume 110, Issue 4, Page 438-448, October 2026.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Anaphylactic Induction of Lupus Nephritis and Posterior Reversible Encephalopathy Syndrome Following Administration of Depo-Provera. [PDF]

Case Reports Immunol
Ezeani A, Staskiewicz S.
europepmc   +1 more source