Lista de obras - Douglas Higgs - Dominio Público Uruguay

A New Dawn for Stem-Cell Therapy

artículo científico publicado en 2008

A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker

artículo científico publicado en 2021

A large deletion in the human -globin cluster caused by a replication error is associated with an unexpectedly mild phenotype

artículo científico publicado en 2008

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

artículo científico publicado en 2016

A revised model for promoter competition based on multi-way chromatin interactions at the α-globin locus

artículo científico publicado en 2019

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions

artículo científico publicado en 2018

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

artículo científico publicado en 2010

ATRX Plays a Key Role in Maintaining Silencing at Interstitial Heterochromatic Loci and Imprinted Genes.

artículo científico publicado en 2015

ATRX dysfunction induces replication defects in primary mouse cells

artículo científico publicado en 2014

ATRX: taming tandem repeats

artículo científico publicado en 2010

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

artículo científico publicado en 2009

An integrative view of the regulatory and transcriptional landscapes in mouse hematopoiesis

artículo científico publicado en 2020

An international effort to cure a global health problem: A report on the 19th Hemoglobin Switching Conference

artículo científico publicado en 2015

An international registry of survivors with Hb Bart's hydrops fetalis syndrome

artículo científico publicado en 2017

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

artículo científico publicado en 2014

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression

artículo científico publicado en 2013

Association between active genes occurs at nuclear speckles and is modulated by chromatin environment

artículo científico publicado en 2008

Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.

artículo científico publicado en 2016

CTCF, cohesin and higher-order chromatin structure

artículo científico publicado en 2009

Causes and consequences of chromatin variation between inbred mice.

artículo científico publicado en 2013

Chromatin signatures at transcriptional start sites separate two equally populated yet distinct classes of intergenic long noncoding RNAs

artículo científico publicado en 2013

Chromosome looping at the human alpha-globin locus is mediated via the major upstream regulatory element (HS -40).

artículo científico publicado en 2009

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts

artículo científico publicado en 2011

Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin

artículo científico publicado en 2011

Comparative analysis of the alpha-like globin clusters in mouse, rat, and human chromosomes indicates a mechanism underlying breaks in conserved synteny

artículo científico publicado en 2004

Considerations when investigating lncRNA function in vivo.

artículo científico publicado en 2014

DNA methylation of intragenic CpG islands depends on their transcriptional activity during differentiation and disease.

artículo científico publicado en 2017

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Distinct factors control histone variant H3.3 localization at specific genomic regions

artículo científico publicado en 2010

Dynamics of the 4D genome during in vivo lineage specification and differentiation

artículo científico publicado en 2020

Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia

artículo científico publicado en 2017

Elderly Survivors with Homozygous Sickle Cell Disease

scientific article published on 01 February 2007

Enhancer-promoter interactions and transcription

artículo científico publicado en 2020

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

artículo científico publicado en 2015

Functional characterisation of cis-regulatory elements governing dynamic Eomes expression in the early mouse embryo

artículo científico publicado en 2017

Functional significance of mutations in the Snf2 domain of ATRX.

artículo científico publicado en 2011

Generation of bivalent chromatin domains during cell fate decisions

artículo científico publicado en 2011

Genetic complexity in sickle cell disease

artículo científico publicado en 2008

Genetic dissection of the α-globin super-enhancer in vivo

scientific article published on 04 July 2016

Global gene expression analysis of human erythroid progenitors

artículo científico publicado en 2011

Good news for the aging population?

scientific article published on 01 October 2008

Haemoglobin Variant Screening in Jamaica: Meeting Student's Request

artículo científico publicado en 2015

Hb S-β-thalassemia: molecular, hematological and clinical comparisons.

artículo científico publicado en 2011

High-resolution analysis of cis-acting regulatory networks at the α-globin locus

artículo científico publicado en 2013

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

artículo científico publicado en 2013

How best to identify chromosomal interactions: a comparison of approaches

artículo científico publicado en 2017

Intragenic enhancers act as alternative promoters

artículo científico publicado en 2012

Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants

artículo científico publicado en 2016

Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I

article

Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression

artículo científico publicado en 2007

Long-range regulation of alpha globin gene expression during erythropoiesis

artículo científico publicado en 2008

Long-range regulation of alpha-globin gene expression

artículo científico publicado en 2008

Manipulating the mouse genome to engineer precise functional syntenic replacements with human sequence

artículo científico publicado en 2007

MicroRNAs of the miR-290-295 Family Maintain Bivalency in Mouse Embryonic Stem Cells.

artículo científico publicado en 2016

Molecular biology: RNA discrimination

artículo científico publicado en 2012

Multiplexed analysis of chromosome conformation at vastly improved sensitivity

artículo científico publicado en 2015

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

artículo científico publicado en 2014

Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53.

artículo científico publicado en 2008

Newborn Screening for Sickle Cell Disease: Jamaican Experience

artículo científico publicado en 2015

PhenCode: connecting ENCODE data with mutations and phenotype

artículo científico publicado en 2007

Polycomb eviction as a new distant enhancer function.

artículo científico publicado en 2011

Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function

article

Prevalence of erythrocyte haemoglobin H inclusions in unselected patients with clonal myeloid disorders

artículo científico publicado en 2007

Reactivation of a developmentally silenced embryonic globin gene

artículo científico publicado en 2021

Research Highlights

artículo científico publicado en 2009

Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.

artículo científico publicado en 2017

Selective silencing of α-globin by the histone demethylase inhibitor IOX1: a potentially new pathway for treatment of β-thalassemia

artículo científico publicado en 2016

Sickle Cell Disease at 100 Years

artículo científico publicado en 2010

Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains

artículo científico publicado en 2018

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX

artículo científico publicado en 2007

Studying epigenomics in single cells: what is feasible and what can we learn?

scientific article published on 08 December 2015

Suppression of the alternative lengthening of telomere pathway by the chromatin remodelling factor ATRX.

artículo científico publicado en 2015

Switching genes on and off in haemopoiesis.

artículo científico publicado en 2008

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

artículo científico publicado en 2011

Thalassaemia

artículo científico publicado en 2011

The alpha thalassaemias.

artículo científico publicado en 2009

The bipartite TAD organization of the X-inactivation center ensures opposing developmental regulation of Tsix and Xist

artículo científico publicado en 2019

The changing face of homozygous sickle cell disease: 102 patients over 60 years.

artículo científico publicado en 2008

The chromatin remodeller ATRX: a repeat offender in human disease

artículo científico publicado en 2013

The chromatin remodelling factor ATRX suppresses R-loops in transcribed telomeric repeats

artículo científico publicado en 2017

The molecular basis of α-thalassemia

artículo científico publicado en 2013

The molecular basis of α-thalassemia: a model for understanding human molecular genetics

artículo científico publicado en 2010

The regulatory interplay of CpG islands and nucleosome remodeling at mammalian primary response genes

article

The relationship between genome structure and function

artículo científico publicado en 2020

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).

artículo científico publicado en 2009

The role of the polycomb complex in silencing alpha-globin gene expression in nonerythroid cells

artículo científico publicado en 2008

The worm has turned: unexpected similarities between the transcription of enhancers and promoters in the worm and mammalian genomes

artículo científico publicado en 2013

Tissue-specific CTCF-cohesin-mediated chromatin architecture delimits enhancer interactions and function in vivo.

artículo científico publicado en 2017

Tissue-specific histone modification and transcription factor binding in alpha globin gene expression.

artículo científico publicado en 2007

Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin

artículo científico publicado en 2016

Understanding α-globin gene regulation and implications for the treatment of β-thalassemia

artículo científico

Using genomics to study how chromatin influences gene expression

artículo científico publicado en 2007

XNP/ATRX at sites of nucleosome replacement

artículo científico publicado en 2009

α-Globin as a molecular target in the treatment of β-thalassemia

artículo científico publicado en 2015

α-thalassaemia

artículo científico publicado en 2010

Lista de obras de Douglas Higgs

A New Dawn for Stem-Cell Therapy

A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker

A large deletion in the human -globin cluster caused by a replication error is associated with an unexpectedly mild phenotype

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

A revised model for promoter competition based on multi-way chromatin interactions at the α-globin locus

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

ATRX Plays a Key Role in Maintaining Silencing at Interstitial Heterochromatic Loci and Imprinted Genes.

ATRX dysfunction induces replication defects in primary mouse cells

ATRX: taming tandem repeats

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

An integrative view of the regulatory and transcriptional landscapes in mouse hematopoiesis

An international effort to cure a global health problem: A report on the 19th Hemoglobin Switching Conference

An international registry of survivors with Hb Bart's hydrops fetalis syndrome

Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression

Association between active genes occurs at nuclear speckles and is modulated by chromatin environment

Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.

CTCF, cohesin and higher-order chromatin structure

Causes and consequences of chromatin variation between inbred mice.

Chromatin signatures at transcriptional start sites separate two equally populated yet distinct classes of intergenic long noncoding RNAs

Chromosome looping at the human alpha-globin locus is mediated via the major upstream regulatory element (HS -40).

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts

Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin

Comparative analysis of the alpha-like globin clusters in mouse, rat, and human chromosomes indicates a mechanism underlying breaks in conserved synteny

Considerations when investigating lncRNA function in vivo.

DNA methylation of intragenic CpG islands depends on their transcriptional activity during differentiation and disease.

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model

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

Distinct factors control histone variant H3.3 localization at specific genomic regions

Dynamics of the 4D genome during in vivo lineage specification and differentiation

Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia

Elderly Survivors with Homozygous Sickle Cell Disease

Enhancer-promoter interactions and transcription

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Functional characterisation of cis-regulatory elements governing dynamic Eomes expression in the early mouse embryo

Functional significance of mutations in the Snf2 domain of ATRX.

Generation of bivalent chromatin domains during cell fate decisions

Genetic complexity in sickle cell disease

Genetic dissection of the α-globin super-enhancer in vivo

Global gene expression analysis of human erythroid progenitors

Good news for the aging population?

Haemoglobin Variant Screening in Jamaica: Meeting Student's Request

Hb S-β-thalassemia: molecular, hematological and clinical comparisons.

High-resolution analysis of cis-acting regulatory networks at the α-globin locus

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

How best to identify chromosomal interactions: a comparison of approaches

Intragenic enhancers act as alternative promoters

Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants

Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I

Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression

Long-range regulation of alpha globin gene expression during erythropoiesis

Long-range regulation of alpha-globin gene expression

Manipulating the mouse genome to engineer precise functional syntenic replacements with human sequence

MicroRNAs of the miR-290-295 Family Maintain Bivalency in Mouse Embryonic Stem Cells.

Molecular biology: RNA discrimination

Multiplexed analysis of chromosome conformation at vastly improved sensitivity

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53.

Newborn Screening for Sickle Cell Disease: Jamaican Experience

PhenCode: connecting ENCODE data with mutations and phenotype

Polycomb eviction as a new distant enhancer function.

Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function

Prevalence of erythrocyte haemoglobin H inclusions in unselected patients with clonal myeloid disorders

Reactivation of a developmentally silenced embryonic globin gene

Research Highlights

Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.

Selective silencing of α-globin by the histone demethylase inhibitor IOX1: a potentially new pathway for treatment of β-thalassemia

Sickle Cell Disease at 100 Years

Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX

Studying epigenomics in single cells: what is feasible and what can we learn?

Suppression of the alternative lengthening of telomere pathway by the chromatin remodelling factor ATRX.

Switching genes on and off in haemopoiesis.

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Thalassaemia

The alpha thalassaemias.

The bipartite TAD organization of the X-inactivation center ensures opposing developmental regulation of Tsix and Xist

The changing face of homozygous sickle cell disease: 102 patients over 60 years.