Lista de obras -

A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets

artículo científico publicado en 2007

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis

scientific article published on 14 December 2019

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

artículo científico publicado en 2016

A congenital neutrophil defect syndrome associated with mutations in VPS45.

artículo científico publicado en 2013

Angiogenic factors in the cerebrospinal fluid of patients with astrocytic brain tumors.

artículo científico publicado en 2004

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3

artículo científico publicado en 2020

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

scientific article published on 20 April 2020

BCL6 is regulated by p53 through a response element frequently disrupted in B-cell non-Hodgkin lymphoma.

artículo científico publicado en 2005

C1824T mutation in the LMNA gene has no association with senile cataract

scientific article published on 10 November 2011

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

scientific article published on 01 October 2019

Cardiac leptin overexpression in the context of acute MI and reperfusion potentiates myocardial remodeling and left ventricular dysfunction

scientific article published in PLoS ONE

Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

artículo científico publicado en 2012

Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency

artículo científico publicado en 2018

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency

artículo científico publicado en 2014

Combined immunodeficiency in a patient with mosaic monosomy 21.

artículo científico publicado en 2016

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene

scientific article published on 11 April 2020

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

artículo científico publicado en 2018

Correlation between 'ACKR1/DARC null' polymorphism and benign neutropenia in Yemenite Jews

artículo científico publicado en 2015

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

artículo científico publicado en 2017

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

artículo científico publicado en 2014

Does RNA editing play a role in the development of urinary bladder cancer?

artículo científico publicado en 2009

EXPERIMENTAL THERAPEUTICS AND PHARMACOLOGY

article

Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency

article by Harjit K Dadi et al published 6 November 2003 in The New England Journal of Medicine

Elevated CO2 levels affect development, motility, and fertility and extend life span in Caenorhabditis elegans

scholarly article

Enhanced expression of the nuclear envelope LAP2 transcriptional repressors in normal and malignant activated lymphocytes

artículo científico publicado en 2007

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations

artículo científico publicado en 2011

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel CARMIL2 mutation

artículo científico publicado en 2020

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

scientific article published on 09 July 2019

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights

artículo científico publicado en 2017

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

artículo científico publicado en 2016

Gene silencing at the nuclear periphery

artículo científico publicado en 2007

Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13

artículo científico publicado en 1999

Genome-wide analysis discloses reversal of the hypoxia-induced changes of gene expression in colon cancer cells by zinc supplementation

artículo científico publicado en 2011

Germline analysis of thymidine/guanidine polymorphism at position 309 of the Mdm2 promoter in malignant melanoma patients.

artículo científico publicado en 2009

Helper T cell immunity in humans with inherited CD4 deficiency

artículo científico publicado en 2024

High metallothionein predicts poor survival in glioblastoma multiforme

artículo científico publicado en 2015

Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.

artículo científico

Histone deacetylase inhibitors--a new tool to treat cancer

artículo científico publicado en 2004

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

artículo científico publicado en 2020

Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients

scientific article published on 01 June 2019

Increased RNA editing in children with cyanotic congenital heart disease

artículo científico publicado en 2011

Induction of polyploidy by nuclear fusion mechanism upon decreased expression of the nuclear envelope protein LAP2β in the human osteosarcoma cell line U2OS.

artículo científico publicado en 2014

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

artículo científico publicado en 2021

Insight into normal thymic activity by assessment of peripheral blood samples.

artículo científico publicado en 2015

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency

scientific article published on 26 September 2018

LAP2zeta binds BAF and suppresses LAP2beta-mediated transcriptional repression.

artículo científico publicado en 2008

Leptin locally synthesized in carotid atherosclerotic plaques could be associated with lesion instability and cerebral emboli

artículo científico publicado en 2012

Leptin receptor is elevated in carotid plaques from neurologically symptomatic patients and positively correlated with augmented macrophage density

artículo científico publicado en 2008

Local Application of Leptin Antagonist Attenuates Angiotensin II-Induced Ascending Aortic Aneurysm and Cardiac Remodeling.

artículo científico publicado en 2016

MHC II deficient infant identified by newborn screening program for SCID

artículo científico publicado en 2018

MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro

artículo científico

Mechanisms operative in the antitumor activity of temozolomide in glioblastoma multiforme

artículo científico publicado en 2007

Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency.

artículo científico publicado en 2010

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

artículo científico publicado en 2011

Multiple imprinted and stemness genes provide a link between normal and tumor progenitor cells of the developing human kidney

scientific article published on 01 June 2006

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

artículo científico publicado en 2006

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

scientific article published on 18 July 2016

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency

artículo científico publicado en 2019

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study

artículo científico publicado en 2013

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

scientific article published on 29 April 2019

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

artículo científico publicado en 2018

Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient

artículo científico publicado en 2013

Nuclear envelopathies--raising the nuclear veil

artículo científico publicado en 2005

Nuclear lamina organization and new functions. The wall and yard guardians of gene expression

articulo cientifico

Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less)

scientific journal article

Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency

artículo científico publicado en 2013

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

artículo científico publicado en 2019

Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells

artículo científico publicado en 2009

Reduced human germ cell-less (HGCL) expression in azoospermic men with severe germinal cell impairment

artículo científico publicado en 2003

Restoring p53 active conformation by zinc increases the response of mutant p53 tumor cells to anticancer drugs.

artículo científico publicado en 2011

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

artículo científico publicado en 2010

Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment

artículo científico publicado en 2012

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.

artículo científico publicado en 2015

Synovial VLA-1+ T cells display an oligoclonal and partly distinct repertoire in rheumatoid and psoriatic arthritis

artículo científico publicado en 2008

T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.

artículo científico publicado en 2017

T- and B-cell defects in a novel purine nucleoside phosphorylase mutation

scientific article published on 10 May 2012

Testicular failure in a patient with G6PC3 deficiency

artículo científico publicado en 2014

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

artículo científico publicado en 2006

The Duffy antigen receptor for chemokines, ACKR1,- 'Jeanne DARC' of benign neutropenia

artículo científico publicado en 2018

The characterization and localization of the mouse thymopoietin/lamina-associated polypeptide 2 gene and its alternatively spliced products

artículo científico publicado en 1996

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation

artículo científico publicado en 2017

The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients

artículo científico publicado en 2010

The effects of DOCK8 deficiency on human neutrophil functions

scholarly article by Amarilla B. Mandola et al published February 2018 in The Journal of Allergy and Clinical Immunology

The human granulocyte nucleus: Unusual nuclear envelope and heterochromatin composition

artículo científico publicado en 2008

The isolation and characterization of renal cancer initiating cells from human Wilms' tumour xenografts unveils new therapeutic targets

artículo científico publicado en 2012

The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients

artículo científico publicado en 2012

The nuclear-envelope protein and transcriptional repressor LAP2beta interacts with HDAC3 at the nuclear periphery, and induces histone H4 deacetylation

artículo científico publicado en 2005

Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome

artículo científico publicado en 2015

Thymic function in MHC class II-deficient patients

artículo científico publicado en 2012

Thymic functions and gene expression profile distinct double-negative cells from single positive cells in the autoimmune lymphoproliferative syndrome

artículo científico

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development

artículo científico publicado en 2015

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

artículo científico publicado en 2012

Ubiquitous expression of a cloned murine thymopoietin cDNA.

artículo científico publicado en 1997

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

scientific article published on 03 March 2020

Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders

artículo científico publicado en 2018

Zinc enhances temozolomide cytotoxicity in glioblastoma multiforme model systems

artículo científico publicado en 2016

Zinc supplementation augments in vivo antitumor effect of chemotherapy by restoring p53 function.

artículo científico publicado en 2011

Lista de obras de

A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

A congenital neutrophil defect syndrome associated with mutations in VPS45.

Angiogenic factors in the cerebrospinal fluid of patients with astrocytic brain tumors.

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

BCL6 is regulated by p53 through a response element frequently disrupted in B-cell non-Hodgkin lymphoma.

C1824T mutation in the LMNA gene has no association with senile cataract

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

Cardiac leptin overexpression in the context of acute MI and reperfusion potentiates myocardial remodeling and left ventricular dysfunction

Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency

Combined immunodeficiency in a patient with mosaic monosomy 21.

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

Correlation between 'ACKR1/DARC null' polymorphism and benign neutropenia in Yemenite Jews

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

Does RNA editing play a role in the development of urinary bladder cancer?

EXPERIMENTAL THERAPEUTICS AND PHARMACOLOGY

Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency

Elevated CO2 levels affect development, motility, and fertility and extend life span in Caenorhabditis elegans

Enhanced expression of the nuclear envelope LAP2 transcriptional repressors in normal and malignant activated lymphocytes

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel CARMIL2 mutation

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

Gene silencing at the nuclear periphery

Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13

Genome-wide analysis discloses reversal of the hypoxia-induced changes of gene expression in colon cancer cells by zinc supplementation

Germline analysis of thymidine/guanidine polymorphism at position 309 of the Mdm2 promoter in malignant melanoma patients.

Helper T cell immunity in humans with inherited CD4 deficiency

High metallothionein predicts poor survival in glioblastoma multiforme

Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.

Histone deacetylase inhibitors--a new tool to treat cancer

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients

Increased RNA editing in children with cyanotic congenital heart disease

Induction of polyploidy by nuclear fusion mechanism upon decreased expression of the nuclear envelope protein LAP2β in the human osteosarcoma cell line U2OS.

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Insight into normal thymic activity by assessment of peripheral blood samples.

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency

LAP2zeta binds BAF and suppresses LAP2beta-mediated transcriptional repression.

Leptin locally synthesized in carotid atherosclerotic plaques could be associated with lesion instability and cerebral emboli

Leptin receptor is elevated in carotid plaques from neurologically symptomatic patients and positively correlated with augmented macrophage density

Local Application of Leptin Antagonist Attenuates Angiotensin II-Induced Ascending Aortic Aneurysm and Cardiac Remodeling.

MHC II deficient infant identified by newborn screening program for SCID

MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro

Mechanisms operative in the antitumor activity of temozolomide in glioblastoma multiforme

Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Multiple imprinted and stemness genes provide a link between normal and tumor progenitor cells of the developing human kidney

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient

Nuclear envelopathies--raising the nuclear veil

Nuclear lamina organization and new functions. The wall and yard guardians of gene expression

Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less)

Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells

Reduced human germ cell-less (HGCL) expression in azoospermic men with severe germinal cell impairment

Restoring p53 active conformation by zinc increases the response of mutant p53 tumor cells to anticancer drugs.

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.

Synovial VLA-1+ T cells display an oligoclonal and partly distinct repertoire in rheumatoid and psoriatic arthritis

T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.

T- and B-cell defects in a novel purine nucleoside phosphorylase mutation

Testicular failure in a patient with G6PC3 deficiency

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

The Duffy antigen receptor for chemokines, ACKR1,- 'Jeanne DARC' of benign neutropenia