Results 131 to 140 of about 21,579,379 (182)

A Variant in Abhydrolase Domain Containing 14A (ABHD14A) and the Suspicion of Aminoacylase 1 (ACY1) Deficiency

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Aminoacylase 1 (ACY1) deficiency is a rare autosomal recessive inborn error of metabolism, characterised by accumulation of N‐acetyl‐l‐amino acids in urine and highly variable clinical presentations. In contrast, the abhydrolase domain containing 14A (ABHD14A) has been suggested to play a role in various metabolic processes and may be linked ...
Lil Klaas, Estrella López‐Martín, Beatriz Martinez‐Delgado, Manuel Posada de la Paz, Antonia Ribes, Jörn Oliver Sass   +5 more
wiley   +1 more source

Aberrant alternative splicing of purinergic receptor P2RX4 prevents sensitivity towards combinatorial treatment in colorectal and pancreatic cancer

The Journal of Pathology, Volume 270, Issue 1, Page 55-68, September 2026.
Abstract Recently, we suggested the combination of chemotherapy and P2RX4 inhibition as a promising novel therapeutic approach for P2RX4‐expressing epithelial tumors to prevent paracrine resistance. Here, we aimed to assess whether determining P2RX4 expression status in colorectal and pancreatic cancer patients would allow stratification of potentially
Christoph Steup, Julian Dosch, Christopher Dietz‐Fricke, Sara Khosraviseftejani, Esther Engel, Adalbert F de Valk, Dominic Menger, Patrick Welker, Peter J Wild, Kilian B Kennel, Maja Kantlehner, Paul K Ziegler, Florian R Greten   +12 more
wiley   +1 more source

Mendelian randomization evidence refines retinal alterations in Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 9, September 2026.
Shulei Man, Yuzhu Gao, Kefan Mou, Yunxia Gao, Ming Zhang   +4 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Joy of Ping-Pong: Genome-Wide and Phenome-Wide Association Studies. [PDF]

Allergy Asthma Immunol Res, 2020
Park HW.
europepmc   +1 more source

Genome–phenome association prediction using weighted deep matrix factorization with a multisource graph attention network

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Genome–phenome association (GPA) prediction can broaden the understanding of biological mechanisms underlying complex phenotypic traits (e.g., diseases and agronomic traits). Traditional deep matrix factorization (DMF)‐based GPA methods can integrate multiple data types and uncover nonlinear associations but often rely on low‐dimensional ...
Ran Duan, Wei Cao, Maozu Guo, Le Tian, Lingling Zhao   +4 more
wiley   +1 more source

A Guide for Exploring Pleiotropic Associations in Genome‐Wide Association Studies Using Summary Statistics

Statistics in Medicine, Volume 45, Issue 20-22, September 2026.
ABSTRACT Genome‐wide association studies (GWAS) have shown that pleiotropy, whereby a single genetic variant or gene influences multiple traits, is common in complex human diseases. Detecting cross‐phenotype associations from GWAS summary statistics remains challenging because of small effect sizes, extensive multiple testing, heterogeneous effects ...
Christina Y. Feng, Pierre‐Emmanuel Sugier, Nan Zou, Benoit Liquet   +3 more
wiley   +1 more source

Molecular insights and translational opportunities to enhance heat tolerance in rice

The Plant Genome, Volume 19, Issue 3, September 2026.
Abstract Heat stress is an increasingly serious threat to rice (Oryza sativa L.) productivity, yet the genetic and regulatory architecture underlying thermotolerance remain poorly resolved and fragmented across studies. Earlier research focused on individual pathways or specific developmental stages; however, recent advances now support an integrated ...
Prabhat Rana, Chanderkant Chaudhary, Rajat Pruthi, Mansi Sharma, Bhupinderjeet Singh, Ravi Kiran Reddy Kondi, Mallesham Bulle, Prasanta K. Subudhi   +7 more
wiley   +1 more source

Testing bidirectional associations of major depressive disorder with medical conditions: two-sample Mendelian randomization study

npj Mental Health Research
Depression is associated with increased risk for a variety of medical conditions. However, the extent to which these associations reflect a causal impact of depression on medical conditions, or vice-versa, remains unresolved.
Yu Fang, Srijan Sen, Gita A. Pathak, Margit Burmeister, Leah S. Richmond-Rakerd   +4 more
doaj   +1 more source

Long‐Term Multisystem Comorbidity Patterns in Acute Pancreatitis: Insights From Observational and Genetic Analysis

United European Gastroenterology Journal, Volume 14, Issue 7, September 2026.
ABSTRACT Introduction Acute pancreatitis (AP) is an inflammatory pancreatic disorder with potentially severe systemic consequences. While its immediate clinical impact is well established, the long‐term multisystem comorbidities of AP remain underexplored.
Tianyi Che, Tian Fu, Yuexin Zhu, Xixian Ruan, Yuhao Sun, Jiawei Geng, Lintao Dan, Xiaoyan Wang, Chunhua Zhou, Duowu Zou, Benoit J. Arsenault, Shuai Yuan, Xue Li, Zhijie Wang, Xiaofeng Zhang, Jie Chen, Yao Zhang   +16 more
wiley   +1 more source