Results 71 to 80 of about 41,824,283 (165)

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

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

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

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

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

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

Comparative Genome‐Wide Association Studies of Metabolites and Grain‐Related Traits in Common Wheat

Plant Biotechnology Journal, EarlyView.
ABSTRACT The metabolome is highly diverse and the closest layer to phenotype; therefore, it is commonly regarded as a bridge between the genome and phenome in plants. Here, we performed large‐scale metabolome analysis using liquid chromatography–tandem mass spectrometry (LC–MS/MS) and 33 grain‐related traits in a diverse panel of natural accessions and
Guoguo Lv, Yanyan Liu, Bingyang Zhang, Ranran Shen, Maosong Yu, Yongyang Wu, Wanting Du, Xinru Yuan, Congwei Sun, Yan Yan, Wei Chen, Feng Chen   +11 more
wiley   +1 more source

Integrated Analysis of Grapevine Responses to Winter Pruning Reveals Temperature‐Associated, Polyphenol‐Rich Xylem Occlusions

Plant, Cell &Environment, EarlyView.
ABSTRACT Perennial crops are continually wounded throughout cultivation. To limit pathogen infection and tissue dehydration, plants have evolved a range of wound responses that protect damaged tissues. These responses include changes in gene expression and the synthesis of protective compounds such as polyphenols.
Marilou Camboué, Monica Galar‐Martínez, Grégoire Loupit, Paraskevi Charalambous, Enric Zehraoui, Joseph Tran, Josep Valls Fonayet, Luis Gonzaga Santesteban, Notburga Gierlinger, Sarah Jane Cookson   +9 more
wiley   +1 more source