Lista de obras - Anselm Enders - Dominio Público Uruguay

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

artículo científico publicado en 2019

A three-stage intrathymic development pathway for the mucosal-associated invariant T cell lineage.

artículo científico publicado en 2016

A variant of SCID with specific immune responses and predominance of gamma delta T cells

artículo científico publicado en 2005

ASCT2 (SLC1A5)-Deficient Mice Have Normal B-Cell Development, Proliferation, and Antibody Production

artículo científico publicado en 2017

ATP11C Facilitates Phospholipid Translocation across the Plasma Membrane of All Leukocytes

artículo científico publicado en 2016

ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes

scientific journal article

B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A.

artículo científico publicado en 2012

Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets

artículo científico publicado en 2019

Comparison of predicted and actual consequences of missense mutations

artículo científico publicado en 2015

DOCK8 is critical for the survival and function of NKT cells

scientific article published on 08 August 2013

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

artículo científico publicado en 2013

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

scientific article published on 18 September 2019

Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii

artículo científico publicado en 2004

Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production.

artículo científico publicado en 2009

Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.

artículo científico publicado en 2017

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

artículo científico publicado en 2019

German Society for Immunology and Australasian Society for Immunology joint Workshop 3(rd) -4(th) December 2015 - Meeting report

artículo científico publicado en 2016

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

artículo científico publicado en 2015

Heterozygous mis-sense mutations in Prkcb as a critical determinant of anti-polysaccharide antibody formation

artículo científico publicado en 2013

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome

artículo científico publicado en 2005

Identification of phenotypically and functionally heterogeneous mouse mucosal-associated invariant T cells using MR1 tetramers

artículo científico publicado en 2015

IgD attenuates the IgM-induced anergy response in transitional and mature B cells.

artículo científico publicado en 2016

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

artículo científico publicado en 2006

Loss of the pro-apoptotic BH3-only Bcl-2 family member Bim inhibits BCR stimulation-induced apoptosis and deletion of autoreactive B cells

artículo científico publicado en 2003

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models.

artículo científico publicado en 2012

Mice deficient in the putative phospholipid flippase ATP11C exhibit altered erythrocyte shape, anemia, and reduced erythrocyte life span.

artículo científico publicado en 2014

Mouse strains with point mutations in TAP1 and TAP2.

artículo científico publicado en 2009

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

artículo científico publicado en 2015

Rasgrp1 mutation increases naive T-cell CD44 expression and drives mTOR-dependent accumulation of Helios⁺ T cells and autoantibodies.

artículo científico publicado en 2013

Reduced memory B cells in patients with hyper IgE syndrome

artículo científico publicado en 2008

Reducing the search space for causal genetic variants with VASP.

artículo científico publicado en 2015

Structural determinants of the IRF4/DNA homodimeric complex

artículo científico publicado en 2021

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome

artículo científico publicado en 2011

Systems-guided forward genetic screen reveals a critical role of the replication stress response protein ETAA1 in T cell clonal expansion.

artículo científico publicado en 2017

T cell expansion is the limiting factor of virus control in mice with attenuated TCR signaling: implications for human immunodeficiency

artículo científico publicado en 2015

T-bet-dependent S1P5 expression in NK cells promotes egress from lymph nodes and bone marrow

artículo científico publicado en 2009

T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) deficiency

artículo científico publicado en 2010

The RNA-binding protein hnRNPLL induces a T cell alternative splicing program delineated by differential intron retention in polyadenylated RNA.

artículo científico publicado en 2014

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4

scientific article published on 01 November 2004

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

artículo científico publicado en 2013

Unravelling the association of partial T-cell immunodeficiency and immune dysregulation

artículo científico publicado en 2008

Up-regulation of LFA-1 allows liver-resident memory T cells to patrol and remain in the hepatic sinusoids.

artículo científico publicado en 2017

ZBTB7B (Th-POK) regulates the development of IL-17-producing CD1d-restricted mouse NKT cells

artículo científico publicado en 2012

Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes.

artículo científico publicado en 2014

Lista de obras de Anselm Enders

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

A three-stage intrathymic development pathway for the mucosal-associated invariant T cell lineage.

A variant of SCID with specific immune responses and predominance of gamma delta T cells

ASCT2 (SLC1A5)-Deficient Mice Have Normal B-Cell Development, Proliferation, and Antibody Production

ATP11C Facilitates Phospholipid Translocation across the Plasma Membrane of All Leukocytes

ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes

B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A.

Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets

Comparison of predicted and actual consequences of missense mutations

DOCK8 is critical for the survival and function of NKT cells

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

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

Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii

Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production.

Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

German Society for Immunology and Australasian Society for Immunology joint Workshop 3(rd) -4(th) December 2015 - Meeting report

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Heterozygous mis-sense mutations in Prkcb as a critical determinant of anti-polysaccharide antibody formation

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome

Identification of phenotypically and functionally heterogeneous mouse mucosal-associated invariant T cells using MR1 tetramers

IgD attenuates the IgM-induced anergy response in transitional and mature B cells.

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

Loss of the pro-apoptotic BH3-only Bcl-2 family member Bim inhibits BCR stimulation-induced apoptosis and deletion of autoreactive B cells

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models.

Mice deficient in the putative phospholipid flippase ATP11C exhibit altered erythrocyte shape, anemia, and reduced erythrocyte life span.

Mouse strains with point mutations in TAP1 and TAP2.

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Rasgrp1 mutation increases naive T-cell CD44 expression and drives mTOR-dependent accumulation of Helios⁺ T cells and autoantibodies.

Reduced memory B cells in patients with hyper IgE syndrome

Reducing the search space for causal genetic variants with VASP.

Structural determinants of the IRF4/DNA homodimeric complex

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome

Systems-guided forward genetic screen reveals a critical role of the replication stress response protein ETAA1 in T cell clonal expansion.

T cell expansion is the limiting factor of virus control in mice with attenuated TCR signaling: implications for human immunodeficiency

T-bet-dependent S1P5 expression in NK cells promotes egress from lymph nodes and bone marrow

T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) deficiency

The RNA-binding protein hnRNPLL induces a T cell alternative splicing program delineated by differential intron retention in polyadenylated RNA.

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4

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

Unravelling the association of partial T-cell immunodeficiency and immune dysregulation

Up-regulation of LFA-1 allows liver-resident memory T cells to patrol and remain in the hepatic sinusoids.

ZBTB7B (Th-POK) regulates the development of IL-17-producing CD1d-restricted mouse NKT cells

Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes.