Lista de obras - Bertrand Boisson - Dominio Público Uruguay

A 44-Year-Old Female With Overwhelming Sepsis

artículo científico publicado en 2019

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

artículo científico publicado en 2019

A continuous assay of myristoyl-CoA:protein N-myristoyltransferase for proteomic analysis

artículo científico publicado en 2003

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

scientific article published on 25 July 2019

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

scientific article published on 01 June 2018

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.

artículo científico publicado en 2013

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

artículo científico publicado en 2014

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

artículo científico publicado en 2021

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

artículo científico publicado en 2013

An essential role for the Zn2+ transporter ZIP7 in B cell development

artículo científico publicado en 2019

Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection

artículo científico publicado en 2020

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

artículo científico publicado en 2018

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

artículo científico publicado en 2018

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

artículo científico publicado en 2018

Carboxypeptidases B of Anopheles gambiae as targets for a Plasmodium falciparum transmission-blocking vaccine.

artículo científico publicado en 2007

Catharanthus roseus G-box binding factors 1 and 2 act as repressors of strictosidine synthase gene expression in cell cultures

artículo científico publicado en 2001

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

artículo científico publicado en 2016

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Clonal conditional mutagenesis in malaria parasites

artículo científico publicado en 2009

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

scientific article published on 23 December 2016

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

artículo científico publicado en 2012

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

artículo científico publicado en 2018

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

artículo científico publicado en 2015

Disruption of Parasite hmgb2 Gene Attenuates Plasmodium berghei ANKA Pathogenicity

artículo científico publicado en 2015

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

artículo científico publicado en 2015

Exome and genome sequencing for inborn errors of immunity

artículo científico publicado en 2016

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years

scientific article published on 15 May 2020

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

artículo científico publicado en 2016

Gene silencing in mosquito salivary glands by RNAi.

artículo científico publicado en 2006

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

artículo científico publicado en 2016

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

artículo científico publicado en 2014

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

scientific article published on 22 September 2020

Host cell traversal is important for progression of the malaria parasite through the dermis to the liver

artículo científico publicado en 2008

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

artículo científico publicado en 2019

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

artículo científico publicado en 2015

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

artículo científico publicado en 2018

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

artículo científico publicado en 2017

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

artículo científico publicado en 2015

Human hyper-IgE syndrome: singular or plural?

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

artículo científico publicado en 2014

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

artículo científico publicado en 2015

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

artículo científico publicado en 2017

Identification of eukaryotic peptide deformylases reveals universality of N-terminal protein processing mechanisms

artículo científico publicado en 2000

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

artículo científico publicado en 2012

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

artículo científico publicado en 2015

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons

article published in the Proceedings of the National Academy of Sciences of the United States of America

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

artículo científico publicado en 2015

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

artículo científico publicado en 2014

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

artículo científico publicado en 2015

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

artículo científico publicado en 2017

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

artículo científico publicado en 2015

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

artículo científico publicado en 2019

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

artículo científico publicado en 2021

Invasive pneumococcal disease in children can reveal a primary immunodeficiency

artículo científico publicado en 2014

LISP1 is important for the egress of Plasmodium berghei parasites from liver cells

artículo científico publicado en 2009

LUBAC: A new function in immunity

artículo científico publicado en 2014

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

artículo científico publicado en 2017

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

artículo científico publicado en 2018

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

artículo científico publicado en 2016

Multibatch Cytometry Data Integration for Optimal Immunophenotyping

scientific article published on 23 November 2020

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

artículo científico publicado en 2012

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

artículo científico publicado en 2014

N-myristoylation regulates the SnRK1 pathway in Arabidopsis

artículo científico publicado en 2007

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

artículo científico publicado en 2021

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

artículo científico publicado en 2015

PAX1 is essential for development and function of the human thymus

artículo científico publicado en 2020

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

artículo científico publicado en 2013

Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

artículo científico publicado en 2015

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

scholarly article by Peng Zhang et al published 15 December 2018 in Bioinformatics

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

artículo científico publicado en 2018

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

artículo científico publicado en 2019

Serial Analysis of Gene Expression in Plasmodium berghei salivary gland sporozoites

artículo científico publicado en 2007

Seroprevalence of human herpes virus 8 antibody in populations at high or low risk of transfusion, graft, or sexual transmission of viruses

artículo científico publicado en 2001

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

scientific article published on 01 May 2020

T-cell defects in patients with germline mutations account for combined immunodeficiency

artículo científico publicado en 2018

TNF and IL-1 exhibit distinct ubiquitin requirements for inducing NEMO-IKK supramolecular structures

artículo científico publicado en 2014

The differential regulation of human ACT1 isoforms by Hsp90 in IL-17 signaling

artículo científico publicado en 2014

The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity

scientific article published on 24 January 2020

The human gene damage index as a gene-level approach to prioritizing exome variants

artículo científico publicado en 2015

The mutation significance cutoff: gene-level thresholds for variant predictions

artículo científico publicado en 2016

The novel putative transporter NPT1 plays a critical role in early stages of Plasmodium berghei sexual development

artículo científico publicado en 2011

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

artículo científico publicado en 2022

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Unexpected protein families including cell defense components feature in the N-myristoylome of a higher eukaryote

artículo científico publicado en 2003

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

artículo científico publicado en 2016

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

artículo científico publicado en 2010

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

artículo científico publicado en 2015

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

ZIPCO, a putative metal ion transporter, is crucial for Plasmodium liver-stage development

artículo científico publicado en 2014

cpbAg1 encodes an active carboxypeptidase B expressed in the midgut of Anopheles gambiae

artículo científico publicado en 2005

Lista de obras de Bertrand Boisson

A 44-Year-Old Female With Overwhelming Sepsis

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

A continuous assay of myristoyl-CoA:protein N-myristoyltransferase for proteomic analysis

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

An essential role for the Zn2+ transporter ZIP7 in B cell development

Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Carboxypeptidases B of Anopheles gambiae as targets for a Plasmodium falciparum transmission-blocking vaccine.

Catharanthus roseus G-box binding factors 1 and 2 act as repressors of strictosidine synthase gene expression in cell cultures

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

Clonal conditional mutagenesis in malaria parasites

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

Disruption of Parasite hmgb2 Gene Attenuates Plasmodium berghei ANKA Pathogenicity

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Exome and genome sequencing for inborn errors of immunity

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

Gene silencing in mosquito salivary glands by RNAi.

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

Host cell traversal is important for progression of the malaria parasite through the dermis to the liver

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Human hyper-IgE syndrome: singular or plural?

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

Identification of eukaryotic peptide deformylases reveals universality of N-terminal protein processing mechanisms

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Invasive pneumococcal disease in children can reveal a primary immunodeficiency

LISP1 is important for the egress of Plasmodium berghei parasites from liver cells

LUBAC: A new function in immunity

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Multibatch Cytometry Data Integration for Optimal Immunophenotyping

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

N-myristoylation regulates the SnRK1 pathway in Arabidopsis

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

PAX1 is essential for development and function of the human thymus

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

Serial Analysis of Gene Expression in Plasmodium berghei salivary gland sporozoites

Seroprevalence of human herpes virus 8 antibody in populations at high or low risk of transfusion, graft, or sexual transmission of viruses

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions