Results 241 to 250 of about 1,107,991 (320)

Sparse multitask group Lasso for genome-wide association studies. [PDF]

PLoS Comput Biol
Nouira A, Azencott CA.
europepmc   +1 more source

Genome-Wide Association Studies and Diet

Journal of Nutrigenetics and Nutrigenomics, 2010
openaire   +3 more sources

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Genome-wide association studies and traditional Chinese medicine in hyperuricemia: current evidence and mechanistic insights. [PDF]

Front Pharmacol
Yang L, Liu J, Luo S, Deng Y.
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

FINEMAP-miss: fine-mapping genome-wide association studies with missing genotype information. [PDF]

Bioinformatics
Kartau J, Pirinen M.
europepmc   +1 more source

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical applications, challenges, and future directions

Arthritis Care &Research, Accepted Article.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Genome-wide association studies and modeling of stomatal gas conductance reveal genetic control of water-use efficiency in sorghum. [PDF]

Plant Physiol
Singh A, Singh A, Newton L, Thompson AM.
europepmc   +1 more source

Nanoindentation Criteria for Combinatorial Thin Film Libraries

Advanced Engineering Materials, EarlyView.
Thin‐film material libraries are compositional spreads used for screening composition‐structure‐property relationships. Nanoindentation is often used to characterize mechanical behavior across these systems, however variations in methodology are widespread.
Andre Bohn, Adie Alwen, Andrea M. Hodge
wiley   +1 more source