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Lista de obras de Kate G Quinlan

1000 Norms Project: protocol of a cross-sectional study cataloging human variation

artículo científico publicado en 2015

A L225A substitution in the human tumour suppressor HIC1 abolishes its interaction with the corepressor CtBP

artículo científico publicado en 2006

A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 site

artículo científico publicado en 2019

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

artículo científico publicado en 2013

Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution

artículo científico publicado en 2015

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

scientific journal article

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

artículo científico publicado en 2015

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

scientific article published on 02 May 2011

Differential regulation of the α-globin locus by Krüppel-like Factor 3 in erythroid and non-erythroid cells

artículo científico publicado en 2014

Direct competition between DNA binding factors highlights the role of Krüppel-like Factor 1 in the erythroid/megakaryocyte switch

artículo científico publicado en 2017

Directing an artificial zinc finger protein to new targets by fusion to a non-DNA-binding domain

artículo científico publicado en 2015

Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin.

artículo científico publicado en 2015

EoTHINophils: Eosinophils as key players in adipose tissue homeostasis

artículo científico publicado en 2020

Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3)

artículo científico publicado en 2020

Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle

artículo científico publicado en 2014

Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans

artículo científico publicado en 2017

How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'.

artículo científico publicado en 2016

KLF1 drives the expression of fetal hemoglobin in British HPFH.

artículo científico publicado en 2017

Krüppel-like Factor 3 (KLF3/BKLF) Is Required for Widespread Repression of the Inflammatory Modulator Galectin-3 (Lgals3).

artículo científico publicado en 2016

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

artículo científico publicado en 2014

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

scientific journal article

Mechanisms directing the nuclear localization of the CtBP family proteins.

artículo científico publicado en 2006

Methylation of a CGATA element inhibits binding and regulation by GATA-1

scientific article published on 22 May 2020

NF1 is a critical regulator of muscle development and metabolism

artículo científico publicado en 2013

Phosphorylation of Krüppel-like factor 3 (KLF3/BKLF) and C-terminal binding protein 2 (CtBP2) by homeodomain-interacting protein kinase 2 (HIPK2) modulates KLF3 DNA binding and activity

artículo científico publicado en 2015

Structural basis for human ZBTB7A action at the fetal globin promoter

artículo científico publicado en 2021

The Identification and Structure of an N-Terminal PR Domain Show that FOG1 Is a Member of the PRDM Family of Proteins

artículo científico publicado en 2014

The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins.

artículo científico publicado en 2010

The regulation of human globin promoters by CCAAT box elements and the recruitment of NF-Y.

artículo científico publicado en 2016

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

scientific journal article

α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

article