Results 101 to 110 of about 245,728 (306)

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

open access: yesFEBS Open Bio, EarlyView.
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui   +10 more
wiley   +1 more source

MiR‐513a promotes human erythroid differentiation by modulating c‐Jun

open access: yesFEBS Open Bio, EarlyView.
During early human erythropoiesis, miR‐513a promoted erythroid differentiation in primary human CD34+ hematopoietic stem‐progenitor cells and human TF‐1 erythroleukemic cells by indirectly decreasing c‐Jun and phospho‐c‐Jun expression, which are associated with increased GATA1 expression.
MinJung Kim   +11 more
wiley   +1 more source

CRISPR/Cas9-mediated editing of the TM6 MADS-box gene in the octoploid strawberry (Fragaria x ananassa) [PDF]

open access: yes, 2018
El contenido del poster presentado está desarrollado en: doi:10.1093/jxb/ery400 y Publicado por Oxford University pressThe B-class of MADS-box transcription factors has been studied in many plant species, but remain functionally uncharacterized in the
Martín-Pizarro, Carmen   +3 more
core   +3 more sources

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte   +13 more
wiley   +1 more source

Combinatorial CRISPR-Cas9 screens for de novo mapping of genetic interactions. [PDF]

open access: yes, 2017
We developed a systematic approach to map human genetic networks by combinatorial CRISPR-Cas9 perturbations coupled to robust analysis of growth kinetics.
A Baryshnikova   +56 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]

open access: yes, 2018
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O   +9 more
core   +2 more sources

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

open access: yesAdvanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley   +12 more
wiley   +1 more source

Evaluation of behavior in transgenic mouse models to understand human congenital pain conditions [PDF]

open access: yes, 2018
BACKGROUND: Containing a brain for signal processing and decision making, and a peripheral component for sensation and response, the nervous system provides higher organisms a powerful method of interacting with their environment.
Bullock, Daniel
core  

Cardiac‐Derived ECM Microspheres for Enhanced hiPSC‐CMs Maturation

open access: yesAdvanced Functional Materials, EarlyView.
Cardiac extracellular matrix microspheres derived from decellularized porcine heart provide a biomimetic 3D microenvironment for human induced pluripotent stem cell–derived cardiomyocytes (hiPSC‐CMs). This platform supports short‐ and long‐term culture, enhances structural organization, and promotes electrophysiological and functional maturation of ...
Jiazhu Xu   +9 more
wiley   +1 more source

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