Lista de obras - Andrew P Jackson - Dominio Público Uruguay

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

artículo científico publicado en 2009

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

artículo científico publicado en 2000

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

scientific article published on 10 August 2012

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

artículo científico publicado en 2005

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

artículo científico publicado en 2020

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

artículo científico publicado en 2000

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

scientific journal article

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

scientific article published on 24 September 2018

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

artículo científico publicado en 2000

BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

artículo científico publicado en 2009

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

artículo científico publicado en 2019

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

artículo científico publicado en 2011

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

artículo científico publicado en 2018

Cerebral organoids model human brain development and microcephaly

artículo científico publicado en 2013

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability

artículo científico publicado en 2016

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

artículo científico publicado en 2018

DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain

artículo científico publicado en 2020

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

artículo científico publicado en 2014

Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus.

artículo científico publicado en 2015

Diversifying microtubules in brain development.

artículo científico publicado en 2009

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

artículo científico publicado en 2012

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

scientific article published on 01 August 2017

Evolution of primary microcephaly genes and the enlargement of primate brains

artículo científico publicado en 2005

Exploring microcephaly and human brain evolution ⬇️

artículo científico publicado el 9 de mayo de 2012

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

artículo científico publicado en 2018

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

artículo científico publicado en 2011

Genome-wide mapping of embedded ribonucleotides and other noncanonical nucleotides using emRiboSeq and EndoSeq.

artículo científico publicado en 2015

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

scientific article published on 20 July 2012

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

artículo científico publicado en 2020

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

artículo científico publicado en 2014

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

artículo científico publicado en 2019

Identification of microcephalin, a protein implicated in determining the size of the human brain

artículo científico publicado en 2002

Identification of small-molecule inhibitors of the ribonuclease H2 enzyme.

artículo científico publicado en 2013

In silico protein interaction screening uncovers DONSON’s role in replication initiation

artículo científico publicado en 2023

Lagging-strand replication shapes the mutational landscape of the genome

artículo científico publicado en 2015

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

scientific article published in Nature Communications

Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid

artículo científico publicado en 2010

Mechanisms and pathways of growth failure in primordial dwarfism.

artículo científico publicado en 2011

Meier-Gorlin syndrome

artículo científico publicado en 2015

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

artículo científico publicado en 2012

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder.

artículo científico publicado en 2005

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

artículo científico publicado en 2017

Microcephalin coordinates mitosis in the syncytial Drosophila embryo

artículo científico publicado en 2007

Murray and Jackson reply.

artículo científico publicado en 2012

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

artículo científico publicado en 2017

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

artículo científico publicado en 2014

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

artículo científico publicado en 2006

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

artículo científico publicado en 2004

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

artículo científico

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

artículo científico publicado en 2015

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

artículo científico publicado en 2006

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

artículo científico publicado en 2011

Nucleic acid-mediated inflammatory diseases

artículo científico publicado en 2008

PCNA directs type 2 RNase H activity on DNA replication and repair substrates

artículo científico publicado en 2011

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

scientific article published on 15 October 2020

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

artículo científico publicado en 1998

Quantifying single nucleotide variant detection sensitivity in exome sequencing

artículo científico publicado en 2013

RNA:DNA hybrids are a novel molecular pattern sensed by TLR9.

artículo científico publicado en 2014

Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability

artículo científico publicado en 2014

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

artículo científico publicado en 2006

Replication Proteins and Human Disease ⬇️

artículo científico publicado el 1 de enero de 2014

Ribonuclease H2 in health and disease.

artículo científico publicado en 2014

Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response

artículo científico publicado en 2016

Ribonucleotide excision repair is essential to prevent squamous cell carcinoma of the skin

Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair

artículo científico publicado en 2013

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

artículo científico publicado en 2011

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

artículo científico publicado en 2022

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

artículo científico publicado en 2013

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

artículo científico publicado en 2015

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

artículo científico publicado en 2015

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

artículo científico publicado en 2014

The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease

artículo científico publicado en 2011

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

artículo científico publicado en 2015

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

artículo científico publicado en 2003

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

artículo científico publicado en 1999

Thrombotic microangiopathy associated with interferon beta

artículo científico publicado en 2014

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

artículo científico publicado en 2015

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

artículo científico publicado en 2016

Type I interferon dysregulation and neurological disease

artículo científico

What primary microcephaly can tell us about brain growth.

artículo científico publicado en 2006

cGAS surveillance of micronuclei links genome instability to innate immunity

artículo científico publicado en 2017

Lista de obras de Andrew P Jackson

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

Cerebral organoids model human brain development and microcephaly

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus.

Diversifying microtubules in brain development.

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Evolution of primary microcephaly genes and the enlargement of primate brains

Exploring microcephaly and human brain evolution ⬇️

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

Genome-wide mapping of embedded ribonucleotides and other noncanonical nucleotides using emRiboSeq and EndoSeq.

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

Identification of microcephalin, a protein implicated in determining the size of the human brain

Identification of small-molecule inhibitors of the ribonuclease H2 enzyme.

In silico protein interaction screening uncovers DONSON’s role in replication initiation

Lagging-strand replication shapes the mutational landscape of the genome

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid

Mechanisms and pathways of growth failure in primordial dwarfism.

Meier-Gorlin syndrome

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Microcephalin coordinates mitosis in the syncytial Drosophila embryo

Murray and Jackson reply.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Nucleic acid-mediated inflammatory diseases

PCNA directs type 2 RNase H activity on DNA replication and repair substrates

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

Quantifying single nucleotide variant detection sensitivity in exome sequencing

RNA:DNA hybrids are a novel molecular pattern sensed by TLR9.

Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

Replication Proteins and Human Disease ⬇️

Ribonuclease H2 in health and disease.

Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response

Ribonucleotide excision repair is essential to prevent squamous cell carcinoma of the skin

Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes