Lista de obras - Daniel C Swan - Dominio Público Uruguay

A CD4 T cell gene signature for early rheumatoid arthritis implicates interleukin 6-mediated STAT3 signalling, particularly in anti-citrullinated peptide antibody-negative disease.

artículo científico publicado en 2012

A genome wide analysis of the response to uncapped telomeres in budding yeast reveals a novel role for the NAD+ biosynthetic gene BNA2 in chromosome end protection ⬇️

artículo científico publicado en 2008

A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report ⬇️

artículo científico publicado en 2016

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

artículo científico publicado en 2012

A role for the pregnane X receptor in flucloxacillin-induced liver injury.

artículo científico publicado en 2010

A variation in the ghrelin gene increases weight and decreases insulin secretion in tall, obese children

artículo científico publicado en 2002

An approach to describing and analysing bulk biological annotation quality: a case study using UniProtKB

artículo científico publicado en 2012

Analysis of differential gene-regulatory responses to zinc in human intestinal and placental cell lines

artículo científico publicado en 2008

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

artículo científico publicado en 2002

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

artículo científico publicado en 2013

BioStar: An Online Question & Answer Resource for the Bioinformatics Community

artículo científico publicado en 2011

Bioinformatic selection of putative epigenetically regulated loci associated with obesity using gene expression data

artículo científico publicado en 2012

Comparative gene expression profiling of human umbilical vein endothelial cells and ocular vascular endothelial cells.

artículo científico publicado en 2011

Comparative genome hybridization of Streptococcus mutans strains

scientific article published on 01 April 2007

Crowdsourced direct-to-consumer genomic analysis of a family quartet

artículo científico publicado en 2015

DNA methylation patterns in cord blood DNA and body size in childhood

artículo científico publicado en 2012

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

artículo científico publicado en 2015

Effects of Sirt1 on DNA methylation and expression of genes affected by dietary restriction

artículo científico publicado en 2012

Emergence of wheat blast in Bangladesh was caused by a South American lineage of Magnaporthe oryzae

artículo científico publicado en 2016

Emergence of wheat blast in Bangladesh was caused by a South American lineage of Magnaporthe oryzae

Glutathione peroxidase 4 has a major role in protecting mitochondria from oxidative damage and maintaining oxidative phosphorylation complexes in gut epithelial cells

artículo científico publicado en 2012

Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA

artículo científico publicado en 2012

Immediate and gradual gene expression changes in telomerase over-expressing fibroblasts

artículo científico publicado en 2010

Improving and correcting the contiguity of long-read genome assemblies of three plant species using optical mapping and chromosome conformation capture data.

artículo científico publicado en 2017

Induction of the mammalian node requires Arkadia function in the extraembryonic lineages

artículo científico publicado en 2001

Intelligent Power Management Over Large Clusters

Leaf LIMS: A Flexible Laboratory Information Management System with a Synthetic Biology Focus

artículo científico publicado en 2017

Low budget analysis of Direct-To-Consumer genomic testing familial data

artículo científico publicado en 2012

MetaBase—the wiki-database of biological databases

artículo científico publicado en 2012

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

scientific journal article

Open software for biologists: from famine to feast

scientific article published on 01 July 2006

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

scientific journal article

Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

artículo científico publicado en 2009

Postnatal growth and DNA methylation are associated with differential gene expression of the TACSTD2 gene and childhood fat mass

artículo científico publicado en 2011

Python for information theoretic analysis of neural data

artículo científico publicado en 2009

Selenium alters miRNA profile in an intestinal cell line: evidence that miR-185 regulates expression of GPX2 and SEPSH2.

artículo científico publicado en 2013

Skeletal site-related variation in human trabecular bone transcriptome and signaling

artículo científico publicado en 2010

Strand selective generation of endo-siRNAs from the Na/phosphate transporter gene Slc34a1 in murine tissues

artículo científico publicado en 2009

The EIF2AK3 gene region and type I diabetes in subjects from South India

artículo científico publicado en 2004

The genetics of cholesteatoma study. Loss-of-function variants in an affected family

scientific article published on 23 July 2019

The genome of the obligate intracellular parasite Trachipleistophora hominis: new insights into microsporidian genome dynamics and reductive evolution

artículo científico publicado en 2012

The molecular phenotype of heparan sulfate in the Hs2st-/- mutant mouse

scientific journal article

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

artículo científico publicado en 2014

What are natural antisense transcripts good for?

artículo científico publicado en 2010

What do natural antisense transcripts regulate?

artículo científico publicado en 2009

Lista de obras de Daniel C Swan

A CD4 T cell gene signature for early rheumatoid arthritis implicates interleukin 6-mediated STAT3 signalling, particularly in anti-citrullinated peptide antibody-negative disease.

A genome wide analysis of the response to uncapped telomeres in budding yeast reveals a novel role for the NAD+ biosynthetic gene BNA2 in chromosome end protection ⬇️

A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report ⬇️

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

A role for the pregnane X receptor in flucloxacillin-induced liver injury.

A variation in the ghrelin gene increases weight and decreases insulin secretion in tall, obese children

An approach to describing and analysing bulk biological annotation quality: a case study using UniProtKB

Analysis of differential gene-regulatory responses to zinc in human intestinal and placental cell lines

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

BioStar: An Online Question & Answer Resource for the Bioinformatics Community

Bioinformatic selection of putative epigenetically regulated loci associated with obesity using gene expression data

Comparative gene expression profiling of human umbilical vein endothelial cells and ocular vascular endothelial cells.

Comparative genome hybridization of Streptococcus mutans strains

Crowdsourced direct-to-consumer genomic analysis of a family quartet

DNA methylation patterns in cord blood DNA and body size in childhood

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Effects of Sirt1 on DNA methylation and expression of genes affected by dietary restriction

Emergence of wheat blast in Bangladesh was caused by a South American lineage of Magnaporthe oryzae

Emergence of wheat blast in Bangladesh was caused by a South American lineage of Magnaporthe oryzae

Glutathione peroxidase 4 has a major role in protecting mitochondria from oxidative damage and maintaining oxidative phosphorylation complexes in gut epithelial cells

Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA

Immediate and gradual gene expression changes in telomerase over-expressing fibroblasts

Improving and correcting the contiguity of long-read genome assemblies of three plant species using optical mapping and chromosome conformation capture data.

Induction of the mammalian node requires Arkadia function in the extraembryonic lineages

Intelligent Power Management Over Large Clusters

Leaf LIMS: A Flexible Laboratory Information Management System with a Synthetic Biology Focus

Low budget analysis of Direct-To-Consumer genomic testing familial data

MetaBase—the wiki-database of biological databases

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Open software for biologists: from famine to feast

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

Postnatal growth and DNA methylation are associated with differential gene expression of the TACSTD2 gene and childhood fat mass

Python for information theoretic analysis of neural data

Selenium alters miRNA profile in an intestinal cell line: evidence that miR-185 regulates expression of GPX2 and SEPSH2.

Skeletal site-related variation in human trabecular bone transcriptome and signaling

Strand selective generation of endo-siRNAs from the Na/phosphate transporter gene Slc34a1 in murine tissues

The EIF2AK3 gene region and type I diabetes in subjects from South India

The genetics of cholesteatoma study. Loss-of-function variants in an affected family

The genome of the obligate intracellular parasite Trachipleistophora hominis: new insights into microsporidian genome dynamics and reductive evolution

The molecular phenotype of heparan sulfate in the Hs2st-/- mutant mouse

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

What are natural antisense transcripts good for?

What do natural antisense transcripts regulate?