Results 121 to 130 of about 98,679 (202)

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

open access: yesJIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel   +13 more
wiley   +1 more source

A novel common variant in DCST2 is associated with length in early life and height in adulthood [PDF]

open access: yes, 2014
Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide ...
Freathy, R.M.   +679 more
core   +1 more source

Structural, Compositional, and Dielectric State Profiling in Label‐Free Single‐Cell Monitoring

open access: yesSmall Methods, Volume 10, Issue 13, 8 July 2026.
Label‐free single‐cell monitoring leverages distinct physical interactions to access structural, compositional, and dielectric states of cells, enabling non‐perturbative, repeatable, and information‐rich measurements across diverse biological contexts. This review organizes representative platforms by intrinsic state variables and connects measurement ...
Changi Baek   +6 more
wiley   +1 more source

Evaluation of association of HNF1B variants with diverse cancers : collaborative analysis of data from 19 genome-wide association studies [PDF]

open access: yes, 2010
Background Genome-wide association studies have found type 2 diabetes-associated variants in the HNF1B gene to exhibit reciprocal associations with prostate cancer risk.
Tomlinson, IP   +280 more
core   +1 more source

Assigning function to genome wide association study variants associated with complex gastrointestinal disease [PDF]

open access: yes, 2009
PhDThe genome‐wide association study era has identified numerous loci associated with many common polygenic diseases. The next challenge is to identify the functional consequences of these variants and elicit how they impact on disease risk.
Heap, Graham Alastair Richard
core  

Advancing clinical precision medicine via peripheral blood immune single‐cell omics

open access: yes
Clinical and Translational Medicine, Volume 16, Issue 7, July 2026.
Liyang Li   +5 more
wiley   +1 more source

Exploring Effects of Age at the Onset of Myopia on Multiple Diseases Using Electronic Health Records

open access: yesOphthalmology Science
Purpose: To examine whether genetic predisposition to age at the onset of myopia is associated with the development of future diseases. Design: Mendelian randomization phenome-wide association study (MR-PheWAS) from the UK Biobank.
Xiayin Zhang, PhD   +11 more
doaj   +1 more source

PTGES2 and RNASET2 identified as novel potential biomarkers and therapeutic targets for basal cell carcinoma: insights from proteome-wide mendelian randomization, colocalization, and MR-PheWAS analyses

open access: yesFrontiers in Pharmacology
IntroductionBasal cell carcinoma (BCC) is the most common skin cancer, lacking reliable biomarkers or therapeutic targets for effective treatment. Genome-wide association studies (GWAS) can aid in identifying drug targets, repurposing existing drugs ...
Qiu-Ju Han   +5 more
doaj   +1 more source

Large-scale cross-trait genetic analysis highlights shared genetic backgrounds of autoimmune diseases

open access: yesImmunological Medicine
Disorders associated with the immune system burden multiple organs, although the shared biology exists across the diseases. Preceding family-based studies reveal that immune diseases are heritable to varying degrees, providing the basis for ...
Yuji Yamamoto   +4 more
doaj   +1 more source

SAIGE-GPU: accelerating genome- and phenome-wide association studies using GPUs

open access: yesBioinformatics
Abstract Motivation Genome-wide association studies (GWAS) at biobank scale are computationally intensive, especially for admixed populations requiring robust statistical models. SAIGE is a widely used method for generalized linear mixed-model GWAS but is limited by its CPU-based implementation,
Alex Rodriguez   +120 more
openaire   +2 more sources

Home - About - Disclaimer - Privacy