Results 51 to 60 of about 43,307 (224)

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis. [PDF]

PLoS ONE, 2015
We report on the derivation of a diploid 46(XX) human embryonic stem cell (HESC) line that is homozygous for the common deletion associated with Spinal muscular atrophy type 1 (SMA) from a pathenogenetic embryo.
Silvina Epsztejn-Litman, Yaara Cohen-Hadad, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Ephrat Levy-Lahad, Oshrat Schonberger, Talia Eldar-Geva, Sharon Zeligson, Rachel Eiges   +9 more
doaj   +1 more source

Population Genomics Insights into Pharmacogenomic Differentiation Between East Asians and Europeans

Clinical Pharmacology &Therapeutics, EarlyView.
Genetic variation contributes substantially to interindividual and interpopulation differences in drug response, yet most pharmacogenomic studies remain biased toward European populations. Here, we systematically assessed pharmacogenomic variation across East Asians (EAS) and Europeans (EUR) using public genomic datasets and investigated the potential ...
Sihan Chen, Hongpu Chen, Shuhua Xu
wiley   +1 more source

Association between SLCO1B1 genetic polymorphisms and bleeding risk in patients treated with edoxaban

Scientific Reports, 2023
Since SLCO1B1 encodes the uptake transporter OATP1B1, which can influence the pharmacokinetic and pharmacodynamic profiles of edoxaban, polymorphisms in SLCO1B1 may affect the edoxaban response.
Ji Min Han, Eun Jeong Jang, Jeong Yee, Tae-Jin Song, Dong-Hyeok Kim, Junbeom Park, Hye Sun Gwak   +6 more
doaj   +1 more source

Does Next Generation Sequencing (NGS)‐Based CYP2D6 Sequencing Improve Genotype–Phenotype Concordance in Tamoxifen‐Treated Patients?

Clinical Pharmacology &Therapeutics, EarlyView.
CYP2D6 metabolizes about 20% of commonly used drugs, including tamoxifen, a major hormone therapy for breast cancer. Although the relationship between tamoxifen pharmacokinetics and CYP2D6 genotype has been demonstrated, residual variability in drug exposure remains unexplained.
Jeanne Petit, Julien Plenecassagnes, Aurelie Brice, Florence Dalenc, Ludovic Mallet, Etienne Chatelut, Ayman Al Saati, Fabienne Thomas   +7 more
wiley   +1 more source

Identification of a Functional CYP2C8 Variant Allele that Alters Splicing, Reduces Protein Expression, and Increases Drug Exposure

Clinical Pharmacology &Therapeutics, EarlyView.
This study investigated genetic determinants of the pharmacokinetics of the CYP2C8 index drugs repaglinide and gemfibrozil, and their interaction in healthy participants. Sequencing data from a study with montelukast revealed a novel functional CYP2C8 allele (rs2071426, CYP2C8*19), predicted to create an intronic splice donor site.
Anssi J. H. Mykkänen, Päivi Hirvensalo, Kathrin Klein, Dorota Kaminska, Markus Grube, Tuija Tapaninen, Johanna I. Kiiski, Mikko Neuvonen, Ville T. Männistö, Jussi Pihlajamäki, Mladen Tzvetkov, Matthias Schwab, Aleksi Tornio, Janne T. Backman, Mikko Niemi   +14 more
wiley   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Characterization of the First PCSK9 Gain of Function Homozygote

Journal of the American College of Cardiology, 2015
Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative PCSK9 GOF missense variants (p.[(Ala62Asp)]; [(Pro467Ala)]), and no mutation in the low-density lipoprotein (LDL) receptor (LDLR) or
Alves, Ana Catarina, Echevarria Gallego, Aitor, Medeiros, Ana, Benito Vicente, Asier, Thedrez, Aurelie, Passard, Maxime, Croyal, Mikael, Martín Plágaro, César Augusto, Lambert, Gilles, Bourbon, Mafalda   +9 more
openaire   +5 more sources

The association between abcb1 gene polymorphism and clopidogrel response variability in stroke ischemic: a cross sectional study

BMC Neurology
Background Clopidogrel has been the primary choice of antiplatelet in ischemic stroke that inhibits adenosine diphosphate (ADP)-induced platelet aggregation.
Rakhmad Hidayat, Rizqi Amanda Nabilah, Marc Fisher, Tiara Aninditha, Mohammad Kurniawan, Riwanti Estiasari, Luh Ari Indrawati, Ahmad Yanuar Safri, Taufik Mesiano, Al Rasyid, Salim Harris   +10 more
doaj   +1 more source

The β integrin modulates serotonin sensitivity via NPxY motifs to regulate egg laying and mechanosensation behaviors in Caenorhabditis elegans

Developmental Dynamics, EarlyView.
Abstract Background Integrin is an αβ heterodimeric receptor to the extracellular matrix; its binding to the matrix recruits focal adhesions to two NPxY motifs, the tyrosine phosphorylation sites in the cytoplasmic domain. Studies found that replacing tyrosines (Y) with phenylalanines (F) in the motif of β1 integrin displayed little developmental or ...
Josh Haram Bumm, Daniel Dogeon Lee, Zhongqiang Qiu, Angela Haeun Choi, Meghana Kolluri, Michael J. Olsen, Lianzijun Wang, Myeongwoo Lee   +7 more
wiley   +1 more source

The segregation of Calb1, Calb2, and Prph neurons reveals distinct and mixed neuronal populations and projections to hair cells in the inner ear and central nuclei

Developmental Dynamics, EarlyView.
Three populations of hair cells have a distinct expression of Calb1 and Calb2. (A, A′D) The central is highly positive for Calb1 while surrounding HC are positive for Calb2. Later, a calyx forms primarily with Calb1. (B, B′, D′, D″) Saccule and utricle start out positive for Calb2 but will upregulate the Calb1 in the striola that is primarily forming ...
Jeong Han Lee, Ebenezer N. Yamoah, Jennifer Kersigo, Karen Elliott, Niya LaRoda, Gabriela Pavlinkova, Bernd Fritzsch   +6 more
wiley   +1 more source