Lista de obras - Patrick Revy - Dominio Público Uruguay

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

artículo científico publicado en 2007

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

artículo científico publicado en 2013

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

artículo científico publicado en 2016

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

artículo científico publicado en 2007

A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

artículo científico publicado en 2000

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression

artículo científico publicado en 1997

Activation of the Janus kinase 3-STAT5a pathway after CD40 triggering of human monocytes but not of resting B cells

scientific article published on 01 July 1999

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

artículo científico publicado en 2000

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

artículo científico publicado en 2015

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

artículo científico publicado en 2005

Assessment of dietary zinc requirement of weaned piglets fed diets with or without microbial phytase

scientific article published on 01 February 2006

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

artículo científico publicado en 2019

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

artículo científico publicado en 2012

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

artículo científico publicado en 2012

Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.

artículo científico publicado en 2006

Cernunnos, a novel DNA repair factor essential for the immune system

artículo científico publicado en 2006

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

artículo científico publicado en 2006

Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.

artículo científico publicado en 2006

DNA repair and the immune system: From V(D)J recombination to aging lymphocytes.

artículo científico publicado en 2007

Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.

artículo científico publicado en 2010

Dyskeratosis congenita: short telomeres are not the rule

artículo científico publicado en 2012

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

artículo científico publicado en 2019

Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

artículo científico publicado en 2017

Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.

artículo científico publicado en 2014

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

scientific journal article

Genotoxic signature in cord blood cells of newborns exposed in utero to a Zidovudine-based antiretroviral combination

artículo científico publicado en 2013

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

artículo científico publicado en 2011

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

artículo científico publicado en 2015

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

artículo científico publicado en 2013

Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes).

artículo científico publicado en 2004

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

artículo científico publicado en 2015

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

artículo científico publicado en 2003

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination ⬇️

artículo científico publicado en 2003

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects

artículo científico publicado en 2005

Hyper-immunoglobulin-M syndromes caused by an intrinsic B cell defect

artículo científico publicado en 2003

Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

artículo científico publicado en 2019

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

artículo científico publicado en 1996

Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell.

artículo científico publicado en 2007

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

artículo científico publicado en 2016

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening

artículo científico publicado en 2017

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

artículo científico publicado en 2016

Méningite à Bacillus cereus chez un nourrisson au décours d'un syndrome de Reye

artículo científico publicado en 1998

Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells

artículo científico publicado en 1998

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

artículo científico publicado en 2012

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.

artículo científico publicado en 2016

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

artículo científico publicado en 2012

Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?

artículo científico publicado en 2014

RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair

artículo científico publicado en 2016

RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability

artículo científico publicado en 2013

Retinoids regulate survival and antigen presentation by immature dendritic cells

artículo científico publicado en 2003

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

artículo científico publicado en 2014

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

artículo científico publicado en 2017

Somatic genetic rescue in Mendelian haematopoietic diseases

scientific article published on 11 June 2019

Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining

artículo científico publicado en 2011

Synapses immunologiques et synapses neuronales

T cell adhesion lowers the threshold for antigen detection

artículo científico publicado en 2003

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

artículo científico publicado en 2013

The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region

artículo científico publicado en 2003

The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.

artículo científico publicado en 2005

Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.

artículo científico publicado en 2011

Two years after, activation-induced cytidine deaminase has not revealed all of its secrets

artículo científico publicado en 2003

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

artículo científico publicado en 2015

V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.

scientific article published on December 2007

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

scientific article published on 21 March 2013

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

artículo científico publicado en 2006

Lista de obras de Patrick Revy

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression

Activation of the Janus kinase 3-STAT5a pathway after CD40 triggering of human monocytes but not of resting B cells

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

Assessment of dietary zinc requirement of weaned piglets fed diets with or without microbial phytase

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.

Cernunnos, a novel DNA repair factor essential for the immune system

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.

DNA repair and the immune system: From V(D)J recombination to aging lymphocytes.

Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.

Dyskeratosis congenita: short telomeres are not the rule

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

Genotoxic signature in cord blood cells of newborns exposed in utero to a Zidovudine-based antiretroviral combination

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes).

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination ⬇️

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects

Hyper-immunoglobulin-M syndromes caused by an intrinsic B cell defect

Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

Méningite à Bacillus cereus chez un nourrisson au décours d'un syndrome de Reye

Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?

RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair

RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability

Retinoids regulate survival and antigen presentation by immature dendritic cells

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

Somatic genetic rescue in Mendelian haematopoietic diseases

Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining

Synapses immunologiques et synapses neuronales

T cell adhesion lowers the threshold for antigen detection

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region

The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.

Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.

Two years after, activation-induced cytidine deaminase has not revealed all of its secrets

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome