Results 161 to 170 of about 499,359 (306)

Interleukin-1 receptor-associated kinase 1 (IRAK1); SNP rs2239673; SNP rs763737; SNP rs3027907; SNP rs5945174; SNP rs7061789 [PDF]

Science-Business eXchange, 2009
openaire   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Induction and Stabilization of Peptide Alpha‐Helices on Silica Nanoparticles

Angewandte Chemie, EarlyView.
Covalent docking turns silica nanoparticles (SNPs) into α‐helix‐stabilizing surfaces. Dynamic imine formation allows peptides with lysine residues aligned on one helical face to adapt to the surface before reduction locks the structure in place, while preserving the opposite face for functional recognition.
Fidel Lozano‐Elena, Seyed Amirabbas Nazemi, Patrick Shahgaldian, Sebastian Wendeborn   +3 more
wiley   +2 more sources

Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1

Nature Genetics, 2008
C. Amos, Xifeng Wu, P. Broderick, I. Gorlov, J. Gu, T. Eisen, Q. Dong, Qing Zhang, X. Gu, J. Vijayakrishnan, K. Sullivan, A. Matakidou, Yufei Wang, G. Mills, K. Doheny, Ya‐Yu Tsai, W. Chen, S. Shete, M. Spitz, R. Houlston   +19 more
semanticscholar   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source

Prioritizing long COVID related single nucleotide polymorphisms by mining genome-wide association studies of COVID-19 susceptibility and hospitalization. [PDF]

Front Syst Biol
Cheng ZS.
europepmc   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos, Natasha Monte, Kaio Evandro Cardoso Aguiar, Rita de Cássia Calderaro, Aline Pasquini Santos, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐Dos‐Santos, Sandro José De Souza, Ândrea Ribeiro‐Dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos, Ney Pereira Carneiro Dos Santos   +11 more
wiley   +1 more source

Candidate-gene-based study of CYP3A-related single-nucleotide polymorphisms using 4β-hydroxycholesterol/cholesterol ratio as biomarker in a Japanese cohort. [PDF]

Eur J Clin Pharmacol
Tanaka R, Suzuki Y, Koyama T, Sumimoto T, Oda A, Sato H, Ozaki E, Tatsuta R, Yamamoto Y, Nakatochi M, Momozawa Y, Ohno K, Takashima N, Matsuo K, Itoh H.   +14 more
europepmc   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Identification of SNPs Associated With mRNA Expression Differences of the Complement Receptor Type 1-Like Gene in Landrace Weaned Piglets. [PDF]

Vet Med Sci
Yin W, Cheng J, Li Q, Xu L, Li H, Fan K, Zhang Z, Sun N, Sun P, Yang H.   +9 more
europepmc   +1 more source