Lista de obras - Owen M Siggs - Dominio Público Uruguay

A ZAP-70 kinase domain variant prevents thymocyte-positive selection despite signalling CD69 induction.

artículo científico publicado en 2014

A forward genetic screen reveals roles for Nfkbid, Zeb1, and Ruvbl2 in humoral immunity

artículo científico publicado en 2012

A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha

artículo científico publicado en 2010

A point mutation in the amino terminus of TLR7 abolishes signaling without affecting ligand binding

artículo científico publicado en 2011

An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence

artículo científico publicado en 2010

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

artículo científico publicado en 2018

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

artículo científico publicado en 2016

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

artículo científico publicado en 2017

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

artículo científico publicado en 2017

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

artículo científico publicado en 2014

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

scientific article published on 18 September 2019

Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease

artículo científico publicado en 2012

Dissecting mammalian immunity through mutation.

artículo científico publicado en 2014

ENU-induced phenovariance in mice: inferences from 587 mutations

artículo científico publicado en 2012

Frontline Science: Coincidental null mutation of Csf2rα in a colony of PI3Kγ-/- mice causes alveolar macrophage deficiency and fatal respiratory viral infection

artículo científico publicado en 2016

Genetic interaction implicates iRhom2 in the regulation of EGF receptor signalling in mice.

artículo científico publicado en 2014

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

scientific article published on 27 July 2018

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

artículo científico publicado en 2017

Increased susceptibility to DNA virus infection in mice with a GCN2 mutation

artículo científico publicado en 2011

Infliximab Reverses Symptoms and May Protect from Developing Chronic Restrictive Ophthalmopathy in Children with Familial Orbital Myositis: A Case Report

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation

scientific article published on 02 January 2019

Mammalian γ2 AMPK regulates intrinsic heart rate

artículo científico publicado en 2017

Molecular Analysis of Goodpasture's Disease Following Hematopoietic Stem Cell Transplant in a Pediatric Patient, Recalls the Conformeropathy of Wild-Type Anti-GBM Disease

scientific article published on 14 November 2019

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

artículo científico publicado en 2020

Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.

artículo científico publicado en 2016

MyD88 signaling in nonhematopoietic cells protects mice against induced colitis by regulating specific EGF receptor ligands

artículo científico publicado en 2010

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

article

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss

artículo científico publicado en 2015

Opposing functions of the T cell receptor kinase ZAP-70 in immunity and tolerance differentially titrate in response to nucleotide substitutions.

artículo científico publicado en 2007

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

artículo científico publicado en 2017

Preponderance of CTLA4 Variation Associated With Autosomal Dominant Immune Dysregulation in the MYPPPY Motif

artículo científico publicado en 2019

Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database

artículo científico publicado en 2018

Quantitative reduction of the TCR adapter protein SLP-76 unbalances immunity and immune regulation.

artículo científico publicado en 2015

RNA and imidazoquinolines are sensed by distinct TLR7/8 ectodomain sites resulting in functionally disparate signaling events

artículo científico publicado en 2014

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

artículo científico publicado en 2016

Systems analysis identifies an essential role for SHANK-associated RH domain-interacting protein (SHARPIN) in macrophage Toll-like receptor 2 (TLR2) responses

artículo científico publicado en 2011

The BTB-ZF transcription factors

artículo científico

The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow

artículo científico publicado en 2011

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

artículo científico publicado en 2020

The genetic and clinical landscape of nanophthalmos in an Australian cohort

artículo científico publicado en 2019

The role of BH3-only protein Bim extends beyond inhibiting Bcl-2-like prosurvival proteins

artículo científico publicado en 2009

Tracing the action of IL-2 in tolerance to islet-specific antigen

scientific article published on 20 March 2007

Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations

artículo científico publicado en 2013

X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C

artículo científico publicado en 2011

iRhom2 is required for the secretion of mouse TNFα

artículo científico publicado en 2012

Lista de obras de Owen M Siggs

A ZAP-70 kinase domain variant prevents thymocyte-positive selection despite signalling CD69 induction.

A forward genetic screen reveals roles for Nfkbid, Zeb1, and Ruvbl2 in humoral immunity

A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha

A point mutation in the amino terminus of TLR7 abolishes signaling without affecting ligand binding

An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease

Dissecting mammalian immunity through mutation.

ENU-induced phenovariance in mice: inferences from 587 mutations

Frontline Science: Coincidental null mutation of Csf2rα in a colony of PI3Kγ-/- mice causes alveolar macrophage deficiency and fatal respiratory viral infection

Genetic interaction implicates iRhom2 in the regulation of EGF receptor signalling in mice.

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Increased susceptibility to DNA virus infection in mice with a GCN2 mutation

Infliximab Reverses Symptoms and May Protect from Developing Chronic Restrictive Ophthalmopathy in Children with Familial Orbital Myositis: A Case Report

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation

Mammalian γ2 AMPK regulates intrinsic heart rate

Molecular Analysis of Goodpasture's Disease Following Hematopoietic Stem Cell Transplant in a Pediatric Patient, Recalls the Conformeropathy of Wild-Type Anti-GBM Disease

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.

MyD88 signaling in nonhematopoietic cells protects mice against induced colitis by regulating specific EGF receptor ligands

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss

Opposing functions of the T cell receptor kinase ZAP-70 in immunity and tolerance differentially titrate in response to nucleotide substitutions.

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

Preponderance of CTLA4 Variation Associated With Autosomal Dominant Immune Dysregulation in the MYPPPY Motif

Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database

Quantitative reduction of the TCR adapter protein SLP-76 unbalances immunity and immune regulation.

RNA and imidazoquinolines are sensed by distinct TLR7/8 ectodomain sites resulting in functionally disparate signaling events

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

Systems analysis identifies an essential role for SHANK-associated RH domain-interacting protein (SHARPIN) in macrophage Toll-like receptor 2 (TLR2) responses

The BTB-ZF transcription factors

The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

The genetic and clinical landscape of nanophthalmos in an Australian cohort

The role of BH3-only protein Bim extends beyond inhibiting Bcl-2-like prosurvival proteins

Tracing the action of IL-2 in tolerance to islet-specific antigen

Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations

X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C

iRhom2 is required for the secretion of mouse TNFα