Results 151 to 160 of about 73,228 (270)

Compound inheritance of EHHADH and MASP1 mutations contributes to nonsyndromic cleft lip: familial analysis and zebrafish models. [PDF]

Biol Open
Swatowska P, Odrzywolski A, Kuźniarz K, Tylzanowski P.   +3 more
europepmc   +1 more source

Degree theory for 4‐dimensional asymptotically conical gradient expanding solitons

Communications on Pure and Applied Mathematics, EarlyView.
Abstract We develop a new degree theory for 4‐dimensional, asymptotically conical gradient expanding solitons. Our theory implies the existence of gradient expanding solitons that are asymptotic to any given cone over S3$S^3$ with non‐negative scalar curvature. We also obtain a similar existence result for cones whose link is diffeomorphic to S3/Γ$S^3/\
Richard H. Bamler, Eric Chen
wiley   +1 more source

Molecular Studies of <i>TCF4</i> Gene and Correlation with Late-Onset Fuchs Endothelial Corneal Dystrophy in the Greek Population: A Novel Cost-Effective Diagnostic Algorithm. [PDF]

Int J Mol Sci
Petri N, Margoni A, Droutsas K, Diamantopoulou A, Kappos N, Papavassiliou AG, Moschos MM, Kroupis C.   +7 more
europepmc   +1 more source

PharmVar GeneFocus: NAT2—Genetic Variation and Updated Nomenclature

Clinical Pharmacology &Therapeutics, EarlyView.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N‐acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines.
Georgia Papanikolaou, Estella S. Poloni, José A.G. Agúndez, Raquel L.F. Teixeira, Erin C. Boone, Adalberto Rezende Santos, Michelle Whirl‐Carrillo, Katrin Sangkuhl, Teri E. Klein, Mariam R. Habil, Giannoulis Fakis, Rodney F. Minchin, David W. Hein, Sotiria Boukouvala, Andrea Gaedigk   +14 more
wiley   +1 more source

GCCVision: An integrated toolkit for calculating and visualizing parental genome contribution in breeding populations. [PDF]

iScience
Shen E, Yu Y, Ma X, Shen Z, Ye Y.
europepmc   +1 more source

Improving Genotype Imputation in High‐Dimensional Pharmacogenomics Using Multiple Imputation: Evaluation with Machine Learning Approaches

Clinical Pharmacology &Therapeutics, EarlyView.
Multiple imputation is well‐established for handling missing data, yet its use in high‐dimensional genetic datasets remains limited. Using pharmacokinetic tuberculosis simulations and SNP data (1000 Genomes Project), we compared machine learning (ML) and traditional approaches (e.g., mean imputation and complete‐case analysis) for imputation and ...
Innocent G. Asiimwe, Tao You, Daniel F. Carr, Munir Pirmohamed, Geraint Davies, Andrea L. Jorgensen, on behalf of the UNITE4TB Consortium   +6 more
wiley   +1 more source

geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders. [PDF]

Mol Genet Genomic Med
Zhang J, Liu D, Chen M, Fang Y, Dai K, Zhu X, Xu Q, Hou M, Wang L, Wang J, Zhang J, Liang B, Teng X.   +12 more
europepmc   +1 more source

Slit tube responses and rock fracture characteristics in slit charge blasting under high in situ stress

Deep Underground Science and Engineering, EarlyView.
In this article, the finite element method‐smoothed particle hydrodynamics adaptive coupling algorithm is applied to numerically simulate and analyze the dynamic response of the slit tube and the crack propagation under high in situ stress. The dynamic response of the slit tube mainly exhibits radial response in the vertical direction of the slit and ...
Zhe Sui, Liyun Yang, Lijun Wu, Chenxi Ding   +3 more
wiley   +1 more source

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability. [PDF]

BMC Med Genomics
Xu J, Xu Y, Su W, Chen L, Wang Y, Li H.
europepmc   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source