Results 101 to 110 of about 130,250 (262)

β‐Adducin Restrains PLA2G4A‐Dependent Lysosomal Membrane Permeabilization and Neuronal Death in Ischemic Stroke

Advanced Science, EarlyView.
This study identifies β‐adducin as a regulator of lysosomal integrity in ischemic neurons. Ischemia‐associated FTO loss increases m6A modification and destabilizes Add2 mRNA, reducing β‐adducin expression and promoting PLA2G4A accumulation at lysosomes.
Hui‐qin Li, Pin‐yi Liu, Dan Wu, Fei‐yu Ma, Yi Bai, Sheng‐nan Xia, Hai‐yan Yang, Xin‐yu Bao, Yun Xu, Xiang Cao   +9 more
wiley   +1 more source

Letermovir and inhibitors of the terminase complex: a promising new class of investigational antiviral drugs against human cytomegalovirus

Infection and Drug Resistance, 2015
Dante P Melendez,1,2 Raymund R Razonable1,2 1Division of Infectious Diseases, 2William J von Liebig Center for Transplantation and Clinical Regeneration, Mayo Clinic, Rochester, MN, USA Abstract: Infection with cytomegalovirus is prevalent in ...
Melendez DP, Razonable RR
doaj  

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Congenital cytomegalovirus infection

Zdravniški Vestnik, 2006
Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth.
Katarina Rednak-Paradiž, Martina Mlaker, Darja Paro-Panjan, Rasta Radešček-Rakar   +3 more
doaj  

Ceftriaxone‐associated immune haemolytic anaemia: A patient‐level systematic review

British Journal of Clinical Pharmacology, EarlyView.
Abstract Ceftriaxone can cause acute haemolysis. Its clinical presentation, risk factors, and outcomes remain incompletely characterized. We conducted a systematic review of published cases with patient‐level data, following international guidelines and with registration in PROSPERO (CRD420261338709). Reports were identified through three bibliographic
Sonja Miotti, Giada Wyttenbach, Mario G. Bianchetti, Camilla Lavagno, Pietro Camozzi, Gregorio P. Milani, Renato Gualtieri, Sebastiano A. G. Lava, Pietro B. Faré, Simone Janett   +9 more
wiley   +1 more source

Long‐term cost‐effectiveness of belatacept vs. tacrolimus in kidney transplantation: Trade‐off between metabolic benefit and immunological risk

British Journal of Clinical Pharmacology, EarlyView.
Aims This study aimed to evaluate the long‐term cost‐effectiveness of belatacept vs. tacrolimus as maintenance immunosuppression in adult kidney transplant recipients, focusing on the trade‐off between reduced new‐onset diabetes after transplantation (NODAT), immunological risk and potential renal benefit.
Salvatore Di Maria, Carmelo Puglia, Alessio Provenzani   +2 more
wiley   +1 more source

Engineering Stable Lentiviral Vector Producer Cells Improves LVV Production

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Stable lentiviral vector producer cell lines represent a promising platform for scalable and cost‐efficient vector manufacturing, yet their productivity is often limited by intrinsic host‐cell constraints. In this study, we aimed to identify cellular factors restricting LVV production in stable doxycycline‐inducible GPRTG producer cell lines ...
Jona Röscheise, Lena‐Marie Eberle, Holger Laux, Kerstin Otte   +3 more
wiley   +1 more source