Results 71 to 80 of about 41,823,825 (180)

Genome‐wide association study and polygenic risk scores of eosinophilia in Taiwan

Clinical & Translational Immunology
Objectives Eosinophilia, characterised by elevated eosinophil levels, is associated with various allergic and inflammatory conditions. This study aimed to elucidate the genetic determinants of eosinophil levels by examining polygenic risk scores (PRS ...
Hsing‐Fang Lu, Su Boon‐Yong, Chi‐Ya Yang, Jiu‐Yao Wang, Yen‐Ting Chang, Fuu‐Jen Tsai   +5 more
doaj   +1 more source

Whole‐genome and transcriptome analysis in relapsed/refractory non‐Hodgkin lymphoma: Results from a multicentre precision oncology cohort

British Journal of Haematology, EarlyView.
Summary Comprehensive genome and transcriptome profiling can inform the diagnosis, prognosis and management of relapsed/refractory (R/R) solid malignancies, yet its integration into clinical care has lagged despite strong biological rationale. We evaluated the clinical utility of whole genome and transcriptome analysis (WGTA) in 65 patients (37 ...
Kathleen Wee, Eric J. Zhao, Cassidy Clemente‐Jones, Rebecca J. Deyell, Shahrad R. Rassekh, Anita Villani, Rosemarie Venier, Daniel Sinnett, Sylvie Langlois, Thai Hoa Tran, Thomas Sontag, Stephanie Grover, Scott Davidson, Nisha Kanwar, Winnie Lo, Erin Pleasance, Laura Williamson, Yaoqing Shen, Alina S. Gerrie, Kerry J. Savage, Laurie H. Sehn, Christopher P. Venner, Marco A. Marra, Janessa Laskin, Diego Villa   +24 more
wiley   +1 more source

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Molecular Autism
Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3.
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach   +12 more
doaj   +1 more source

PTEN homozygous deletion is a negative prognostic factor in tumor treating fields‐treated glioblastoma, IDH wildtype patients

Brain Pathology, EarlyView.
In a molecularly confirmed cohort of 64 newly diagnosed, TTFields‐treated glioblastomas, IDH‐wildtype, homozygous PTEN deletion was associated with markedly shorter overall survival (368 vs. 603 days) and remained an independent adverse prognostic factor.
Jakob Nückles, Claudius Jelgersma, Christin Siewert, Brendan Osberg, Simone Schmid, Arend Koch, Eilís Perez, Daniel Teichmann, Martin Misch, Anna‐Gila Karbe, Susanne Ukrow, Patrick N. Harter, Ruth M. Stassart, Peter Vajkoczy, Julia Onken, David Capper   +15 more
wiley   +1 more source

Phenome-wide association of APOE alleles in the All of Us Research ProgramResearch in context

EBioMedicine
Summary: Background: Apolipoprotein E (APOE) variation is associated with altered lipid metabolism, as well as cardiovascular and neurodegenerative disease.
Ehsan Khajouei, Valentina Ghisays, Ignazio S. Piras, Kiana L. Martinez, Anthony T. Vicenti, Marcus Naymik, Preston Ngo, Tam C. Tran, Joshua C. Denny, Travis J. Wheeler, Matthew J. Huentelman, Eric M. Reiman, Jason H. Karnes   +12 more
doaj   +1 more source

Phylogenomic analysis of ultraconserved elements clarifies relationships and morphological evolution in Cryptoplacoidea (Mollusca: Polyplacophora)

Cladistics, EarlyView.
Abstract Targeted enrichment of ultraconserved elements (UCEs) is a powerful tool for resolving phylogeny in groups with limited morphological or molecular data. Here, we use UCEs to reconstruct the first comprehensive phylogeny of the chiton superfamily Cryptoplacoidea, including museum material up to 133 years old.
Katarzyna Vončina, Zeyuan Chen, Enrico Schwabe, Anna K. Hundsdoerfer, Julia D. Sigwart   +4 more
wiley   +1 more source

Phenome-wide association study of the major histocompatibility complex region in the Korean population identifies novel association signals

, 2022
© The Author(s) 2022. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.Human leukocyte antigen (HLA) gene variants in the major histocompatibility complex (MHC) region are associated ...
Kim, Bong-Jo, Jang, Hye-Mi, Hwang, Mi Yeong, Hong, Sang Bin, Han, Buhm, Kim, Chanwoo, Park, Hyun-Young, Kim, Young Jin, Choi, Wanson, Yoon, Kyungheon, Jung, Sunwoo, Lim, Hyunjoon, Hyunjoon Lim, Bong-Jo Kim, Buhm Han, Hye-Mi Jang, Chanwoo Kim, Sang Bin Hong, Wanson Choi, Sunwoo Jung, Young Jin Kim, Kyungheon Yoon, Hyun-Young Park, Mi Yeong Hwang   +23 more
core   +1 more source

Advancing conservation breeding programs for marine invertebrates

Conservation Biology, EarlyView.
Abstract In the face of ecosystem change and biodiversity loss caused by climate change and other stressors, conservation breeding, or captive breeding, with the aim of reintroduction for wild population recovery, is an emerging tool for preventing species’ extinction and rehabilitating ecosystems.
Elora H. López‐Nandam, Bart Shepherd, Kylie Lev, Rebecca Albright   +3 more
wiley   +1 more source

Additional file 2 of Exploring the causal role of the immune response to varicella-zoster virus on multiple traits: a phenome-wide Mendelian randomization study

, 2023
Additional file 2: Table S1. SNPs associated with anti-VZV IgG levels identified by the Genome-wide association scan. Table S2. Full results of the phenome-wide Mendelian randomization analyses of 1,370 traits. Table S3. Traits showed a suggestive causal
Krisztina Mekli (4351042), Artitaya Lophatananon (146409), Hui Guo (110581), Xinzhu Yu (10066699), Kenneth R. Muir (9389092)   +4 more
core   +1 more source

Toward “Obesityomics”: Domain‐Specific Omics in Precision Obesity Medicine with a Brief AI Perspective

Obesity Reviews, EarlyView.
ABSTRACT Background Obesity's global rise has outpaced the effectiveness of “one‐size‐fits‐all” prevention and treatment strategies. The promise of precision medicine lies in addressing the etiological and biological diversity of obesity and transforming it into actionable endotypes.
Nadia Abu Samra, Sara G. I. Suliman, Mohammed Al‐Hadad, Dorret I. Boomsma, Fadwa Alhantoobi, Maithah Alsamahi, Haneen Abufarajallah, Alia Al Tikriti, Zeyar Aung, Selena Richards, Abdulrahim Sajini, Mira Mousa, Fatima Sulaiman, Wael Osman   +13 more
wiley   +1 more source