Results 151 to 160 of about 18,587 (264)

Decoding the Gut‐Brain Axis: Multi‐Omics Reveals a Causal Chain Linking Human Genome, Gut Microbiota, Blood Metabolites, and Alertness in the Brain

Med Research, EarlyView.
This multi‐omics study identified genetic loci, gut microbiota, blood metabolites, and gray matter volumes of orbitofrontal cortex and cerebellum that were potentially relevant to alerting in healthy Chinese adults. Subsequent two‐step one‐sample Mendelian randomization further revealed a serial mediation pathway: Bacteroides intestinalis influences ...
Hongru Li, Chuansheng Chen, Ofir Turel, Yu Pu, Hong Chen, Tingyong Feng, Jiang Qiu, Xu Lei, Qinghua He   +8 more
wiley   +1 more source

A New Paradigm for Pediatric AML: Improving the Pipeline for Treatments Targeting Cytogenetic and Molecular Alterations. [PDF]

Cancers (Basel)
Ayerbe C, Fan AE, Scanlan R, Raj R, Catueno S, Ray A, Aguirre H, McCall D, Roth M, Garcia MB, Nunez C, Sheikh IN, Garcia-Manero G, Cuglievan B, Gibson A.   +14 more
europepmc   +1 more source

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source

TP53 Amplification, a Rare but Recurrent Alteration in Myeloid Neoplasms. [PDF]

Genes Chromosomes Cancer
Stengel A, Meggendorfer M, Haferlach T, Walter W.   +3 more
europepmc   +1 more source

Beyond conventional anthropometry: Muscle‐related indicators and muscle strength in adults with congenital heart disease: A retrospective study with a comparison group

Nutrition in Clinical Practice, EarlyView.
Abstract Anthropometric characteristics and muscle strength remain insufficiently characterized in adults with congenital heart disease (CHD). The aim of the study was to characterize anthropometric indicators and muscle strength in hospitalized adults with CHD and examine differences according to cardiac lesion complexity. Exploratory comparisons with
Hyan Ribeiro Prudêncio de Sousa, Cláudia Porto Sabino Pinho   +1 more
wiley   +1 more source

Radiation effects of a CT scan on chromosomal aberrations in cancer and non-cancer patients. [PDF]

J Radiat Res
Kawashima Y, Shi L, Fukumoto W, Sun J, Tanaka K, Sakai C, Ishida M, Ishida T, Nakano Y, Loy-Caraos G, Bayasgalan N, Bayarjargal S, Kamimura Y, Aikata H, Yoshinaga S, Chayama K, Awai K, Tashiro S.   +17 more
europepmc   +1 more source

Functional Characterization of CYP26B1 Short Isoform as a Novel Locus for Obesity in Indigenous Americans From Arizona

Obesity, EarlyView.
ABSTRACT Objective To identify heritable factors that affect BMI among Indigenous Americans, we previously conducted a genome‐wide association study using 7.9 million imputed genetic variants from 6789 participants. This study sought to identify a mechanistic link between variants with the strongest association with BMI and adipocyte metabolism ...
Fehmida Farid Khan, Michael Traurig, Kendrick Freeland, Robert L. Hanson, Paolo Piaggi, Leslie J. Baier   +5 more
wiley   +1 more source

From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss. [PDF]

Front Genet
Skrypnyk C, AlHafnawi HH, AlHarmi R, Amin E, Albuarki H.   +4 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Leveraging a spectrum of cytogenomics methods for profiling complex karyotypes in chronic lymphocytic leukemia. [PDF]

Hum Genomics
Cernovska K, Penazova S, Stranska K, Porc JP, Skalakova P, Ondrouskova E, Rausch T, Svaton J, Tausova K, Kazdova N, Pal K, Hynst J, Benes V, Jarosova M, Pospisilova S, Kotaskova J, Plevova K.   +16 more
europepmc   +1 more source