Results 181 to 190 of about 394,012 (302)

Conservation and evolution of the programmed ribosomal frameshift in <i>prfB</i> across the bacterial domain. [PDF]

mBio
Prince CR, Lin IN, Feaga HA.
europepmc   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Reprogramming ribosomes during viral protein synthesis. [PDF]

Biochem (Lond)
Betts J, Hill CH, Brierley I.
europepmc   +1 more source

Sporadic Hepatocellular Carcinoma in an Adolescent Harboring a Somatic CDH1 Mutation: A Case Report and Literature Review

The Kaohsiung Journal of Medical Sciences, EarlyView.
Chang‐Wei Su, Peir‐In Liang, Shih‐Chang Chuang   +2 more
wiley   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

Impact of Genomic Mutations on the Transcriptional Pathways and Tumor Microenvironment Landscape of Localized Early Prostate Cancer

The Prostate, EarlyView.
ABSTRACT Background The management of intermediate‐risk early prostate cancer (PCa) is challenging due to the difficulty in distinguishing indolent from aggressive tumors. This study explores the association between genomic alterations and the tumor and its microenvironment (TME) and implications for disease progression. Methods We performed multi‐omic
William Lautert‐Dutra, Camila M. Melo, Luiz P. Chaves, Francisco C. Souza, Vida Talebian, Cheryl Crozier, Mary Anne Quintayo, Linda Liao, Dan Dion, Fabiano P. Saggioro, Felipe S. Avante, Rodolfo B. dos Reis, Jeremy A. Squire, Jane Bayani   +13 more
wiley   +1 more source

Covalent Probes Reveal Small-Molecule Binding Pockets in Structured RNA and Enable Bioactive Compound Design. [PDF]

J Am Chem Soc
Kovachka S, Wang J, Taghavi A, Jia Y, Asaba T, Wolff KC, Martin M, Yang X, Meyer SM, Ottilie S, Heacock M, Cheng Z, McNamara CW, Dubey G, Chatterjee AK, Chanda S, Gallego J, Childs-Disney JL, Disney MD.   +18 more
europepmc   +1 more source

Safety Evaluation of an Aqueous Root and Leaf Extract of Ashwagandha (Withania somnifera)

Phytotherapy Research, EarlyView.
Sensoril, an aqueous root and leaf extract of ashwagandha showed no evidence of mutagenicity in the in vitro Ames assay, was negative in the in vitro micronucleus, in vivo mammalian bone marrow chromosome aberration assays, and was well tolerated in the rat at up to 4000 mg/kg BW/day when administered orally for a period of 90 days. The data from these
Mukesh Summan, Candace L. Doepker, Gregory P. Brorby   +2 more
wiley   +1 more source