Results 181 to 190 of about 8,739 (269)

Development and Analytical Validation of a Laboratory‐Customized TaqMan‐MGB Probe Method for CYP2C19 Genotyping

Journal of Clinical Laboratory Analysis, EarlyView.
A laboratory‐customized, open‐sequence TaqMan‐MGB probe assay was developed for detecting CYP2C19*2 and CYP2C19*17 polymorphisms using dried blood spot‐derived DNA. The assay demonstrated allele‐specific discrimination, candidate LODs of 1.17 × 102 copies/μL for CYP2C19*2 and 0.94 × 103 copies/μL for CYP2C19*17, and repeatability with CVs below 10%. In
Yaqun Liu, Lianghui Chen, Xuanyi Zheng, Peikui Yang, Yicun Chen, Chengsong Xie, Zhenxia Zhang, Yuzhong Zheng   +7 more
wiley   +1 more source

Predicting productive, health, and reproductive traits in Mexican Holstein cattle using single nucleotide polymorphisms, haplotypes, and runs of homozygosity. [PDF]

JDS Commun
Cortes-Hernández JG, Martinez-Boggio G, Peñagaricano F, Montaldo HH, Ruiz-López FJ, García-Ruiz A.   +5 more
europepmc   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Visualization of Runs of Homozygosity and Classification Using Convolutional Neural Networks. [PDF]

Biology (Basel)
Bakoev S, Kolosova M, Romanets T, Bakoev F, Kolosov A, Romanets E, Korobeinikova A, Bakoeva I, Akhmedli V, Getmantseva L.   +9 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Genetic diversity and runs of homozygosity in Rendena cattle

, 2021
Somenzi, E., Franceschi, N., Barbato, M., Colli, N., Partel E., Komjanc, M., Achilli, A., Hauffe, H. C., Ajmone Marsan, P.   +8 more
openaire   +3 more sources

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Analysis of runs of homozygosity in Yeonsan Ogye chickens using 600K single nucleotide polymorphism arrays. [PDF]

J Anim Sci Technol
Kim J, Kim M, Cho E, Lee SS, Kim S, Jin D, Lee JH.   +6 more
europepmc   +1 more source

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 more
wiley   +1 more source

Distribution of runs of homozygosity in Lactuca species and its implications for plant breeding and evolutionary conservation. [PDF]

BMC Genomics
Zhang Q, Lv W, Liu D, Xie X, Yang K, Tang Y, Solkner J.   +6 more
europepmc   +1 more source