Lista de obras - Min Ae Lee-Kirsch - Dominio Público Uruguay

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

artículo científico publicado en 2007

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening

artículo científico publicado en 2016

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations

artículo científico publicado en 2011

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

artículo científico publicado en 2019

Aicardi-Goutières syndrome: a model disease for systemic autoimmunity

artículo científico publicado en 2014

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome

scientific article published on 30 June 2014

Altered structure, regulation, and function of the gene encoding the atrial natriuretic peptide in the stroke-prone spontaneously hypertensive rat

artículo científico publicado en 1999

Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation

scholarly article by Nick Zimmermann et al published 23 January 2019 in JAMA Dermatology

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

artículo científico publicado en 2017

Chilblain lupus erythematosus--a review of literature.

artículo científico publicado en 2008

Chilblain lupus erythematosus-a review of literature.

artículo científico publicado en 2008

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

artículo científico publicado en 2014

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

artículo científico publicado en 2010

Deregulated type I IFN response in TREX1-associated familial chilblain lupus

artículo científico publicado en 2013

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype

artículo científico publicado en 2011

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

artículo científico publicado en 2020

Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors

scientific article published on 06 May 2020

Epilepsy in Aicardi-Goutières syndrome

artículo científico publicado en 2013

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

artículo científico publicado en 2010

Familial chilblain lupus due to a gain-of-function mutation in STING.

artículo científico publicado en 2016

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).

artículo científico publicado en 2015

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

artículo científico publicado en 2006

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.

artículo científico publicado en 2009

Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes

artículo científico publicado en 2007

Genetic methods for analysis of autoinflammatory diseases

artículo científico publicado en 2017

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).

artículo científico publicado en 2005

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

artículo científico publicado en 2012

Innate immune processes in lupus erythematosus

artículo científico

Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?

scientific article published on 17 November 2020

Janus kinase inhibition in complement component 1 deficiency

scientific article published on 20 April 2020

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.

artículo científico publicado en 2017

More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation

artículo científico publicado en 2020

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

artículo científico publicado en 2015

Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL.

artículo científico publicado en 2014

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

artículo científico publicado en 2007

Nucleic acid metabolism and systemic autoimmunity revisited

scientific article published on 01 May 2010

Nucleic acid-mediated autoinflammation and autoimmunity-type I interferonopathies

artículo científico publicado en 2016

PNPT1 mutations may cause Aicardi-Goutières-Syndrome

artículo científico publicado en 2020

Platelet function in obese children and adolescents

artículo científico publicado el 1 de noviembre de 2010

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

artículo científico publicado en 2016

Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus

artículo científico publicado en 2009

Reconciling neuroimaging and clinical findings in Aicardi-Goutières syndrome: an autoimmune-mediated encephalopathy

artículo científico publicado en 2010

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

artículo científico publicado en 2016

SAMHD1 prevents autoimmunity by maintaining genome stability

artículo científico publicado en 2014

SMARCAD1 haploinsufficiency underlies Huriez Syndrome and associated skin cancer susceptibility

artículo científico publicado en 2018

Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense <i>RASGRP2</i> Mutation

artículo científico publicado en 2020

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

artículo científico publicado en 2015

Single Cell Gel Electrophoresis for the Detection of Genomic Ribonucleotides

artículo científico publicado en 2018

Single-stranded nucleic acids promote SAMHD1 complex formation

artículo científico publicado en 2013

Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation

artículo científico publicado en 2006

Systemic involvement in TREX1-associated familial chilblain lupus

artículo científico publicado en 2013

The Status Quo of Rare Diseases Centres for the Development of a Clinical Decision Support System - A Cross-Sectional Study

artículo científico publicado en 2020

The Type I Interferonopathies.

artículo científico publicado en 2016

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1 ⬇️

artículo científico publicado el 26 de septiembre de 2010

Therapeutic Approaches to Type I Interferonopathies.

artículo científico publicado en 2018

Three-generational alkaptonuria in a non-consanguineous family

artículo científico publicado en 2008

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes

artículo científico publicado en 2012

Type I interferon-mediated autoinflammation and autoimmunity

artículo científico publicado en 2017

Type I interferonopathies--an expanding disease spectrum of immunodysregulation

artículo científico

Type I interferonopathies. Systemic inflammatory diseases triggered by type I interferons

artículo científico publicado en 2016

Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene

artículo científico publicado en 2009

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

artículo científico publicado en 2016

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

artículo científico publicado en 2017

Lista de obras de Min Ae Lee-Kirsch

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening

Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

Aicardi-Goutières syndrome: a model disease for systemic autoimmunity

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome

Altered structure, regulation, and function of the gene encoding the atrial natriuretic peptide in the stroke-prone spontaneously hypertensive rat

Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

Chilblain lupus erythematosus--a review of literature.

Chilblain lupus erythematosus-a review of literature.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Deregulated type I IFN response in TREX1-associated familial chilblain lupus

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors

Epilepsy in Aicardi-Goutières syndrome

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

Familial chilblain lupus due to a gain-of-function mutation in STING.

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.

Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes

Genetic methods for analysis of autoinflammatory diseases

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

Innate immune processes in lupus erythematosus

Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?

Janus kinase inhibition in complement component 1 deficiency

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.

More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL.

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

Nucleic acid metabolism and systemic autoimmunity revisited

Nucleic acid-mediated autoinflammation and autoimmunity-type I interferonopathies

PNPT1 mutations may cause Aicardi-Goutières-Syndrome

Platelet function in obese children and adolescents

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus

Reconciling neuroimaging and clinical findings in Aicardi-Goutières syndrome: an autoimmune-mediated encephalopathy

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

SAMHD1 prevents autoimmunity by maintaining genome stability

SMARCAD1 haploinsufficiency underlies Huriez Syndrome and associated skin cancer susceptibility

Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense <i>RASGRP2</i> Mutation

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

Single Cell Gel Electrophoresis for the Detection of Genomic Ribonucleotides

Single-stranded nucleic acids promote SAMHD1 complex formation

Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation

Systemic involvement in TREX1-associated familial chilblain lupus

The Status Quo of Rare Diseases Centres for the Development of a Clinical Decision Support System - A Cross-Sectional Study

The Type I Interferonopathies.

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1 ⬇️

Therapeutic Approaches to Type I Interferonopathies.

Three-generational alkaptonuria in a non-consanguineous family

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes

Type I interferon-mediated autoinflammation and autoimmunity

Type I interferonopathies--an expanding disease spectrum of immunodysregulation

Type I interferonopathies. Systemic inflammatory diseases triggered by type I interferons

Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene