List of works - Georges Nemer

A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases.

scientific article

A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.

scientific article published on 20 September 2017

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects

scientific article published on 18 December 2017

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

scientific article

A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.

scientific article published on 5 March 2013

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

scientific journal article

A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans

scientific article published on 30 April 2020

A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

scientific article published on 01 February 2016

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot

scientific article published in March 2006

A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.

scientific article published in March 2017

A novel mutation in the gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis

article

A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

scientific article

Absence of GJA1 gene mutations in four patients with anomalous left coronary artery from the pulmonary artery (ALCAPA)

scientific article published on 01 July 2011

Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

scientific article published on 01 April 2008

AutoDock and AutoDockTools for Protein-Ligand Docking: Beta-Site Amyloid Precursor Protein Cleaving Enzyme 1(BACE1) as a Case Study.

scientific article

BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer

scientific article

Bioexploration and Phylogenetic Placement of Entomopathogenic Fungi of the Genus Beauveria in Soils of Lebanon Cedar Forests

scientific article published in 2021

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

scientific article published on 30 May 2018

Cooperative interaction between GATA5 and NF-ATc regulates endothelial-endocardial differentiation of cardiogenic cells.

scientific article published on September 2002

Copper-adenine complex, a compound, with multi-biochemical targets and potential anti-cancer effect.

scientific article

Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis

scientific article published on 10 November 2018

Diet, genetics, and disease: a focus on the middle East and north Africa region ⬇️

scientific article published on 29 March 2012

Differential duplication of an intronic region in the NFATC1 gene in patients with congenital heart disease

scientific article published on 01 September 2006

Distinct expression and function of alternatively spliced Tbx5 isoforms in cell growth and differentiation

scientific article published on 7 April 2008

Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease

scientific article published on 01 September 2007

Efficient and Accurate Algorithm for Cleaved Fragments Prediction (CFPA) in Protein Sequences Dataset Based on Consensus and Its Variants: A Novel Degradomics Prediction Application.

scientific article published on January 2017

Electrostatic study of Alanine mutational effects on transcription: application to GATA-3:DNA interaction complex.

scientific article published on August 2015

Epigenetic Suppression of the T-box Subfamily 2 () in Human Non-Small Cell Lung Cancer ⬇️

scientific article published on 07 March 2019

Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.

scientific article published on 11 January 2017

Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation

scientific article published on 01 July 2007

FOXI2: a possible gene contributing to ectodermal dysplasia

scientific article published on 22 November 2017

Familial hypercholesterolemia: the lipids or the genes? ⬇️

scientific article

GATA4 loss-of-function mutations underlie familial tetralogy of fallot

scientific article

GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.

scientific article

Genetics of inherited cardiocutaneous syndromes: a review

scientific article

Genome-wide gene expression changes in the normal-appearing airway during the evolution of smoking-associated lung adenocarcinoma.

scientific article

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes

scientific article published on 16 March 2017

Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation

scientific article published on 11 November 2010

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

scientific article published on 20 June 2018

Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis

scientific article published on 13 August 2016

Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease

scientific article

Immunodiagnosis of Prune dwarf virus using antiserum produced to its recombinant coat protein.

scientific article published in October 2004

Impact of embryonic passaging of H9N2 virus on pathogenicity and stability of HA1- amino acid sequence cleavage site.

scientific article published in October 2010

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

scientific article published on 26 June 2018

Integrative transcriptome analyses empower the anti-COVID-19 drug arsenal

scientific article published on 19 October 2020

Linezolid Toxicity and Mitochondrial Susceptibility: A Novel Neurological Complication in a Lebanese Patient

scientific article published on 20 September 2016

Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia

scientific article published on 09 October 2013

Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction

scientific article published on 19 September 2018

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms

scientific article

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis

scientific article published in October 2016

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.

scientific article

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity

scientific article

Novel Bioinformatics-Based Approach for Proteomic Biomarkers Prediction of Calpain-2 &Caspase-3 Protease Fragmentation: Application to βII-Spectrin Protein

scientific article published on 23 January 2017

Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension

scientific article published on 11 November 2019

Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1mutation

scientific article published on 25 July 2014

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

scientific article published on 02 January 2020

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia.

scientific article

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype ⬇️

scientific article published on March 12, 2013

Regulation of de novo ceramide synthesis: the role of dihydroceramide desaturase and transcriptional factors NFATC and Hand2 in the hypoxic mouse heart

scientific article published on 14 May 2013

Regulation of the sphingolipid signaling pathways in the growing and hypoxic rat heart

scientific article published on 26 October 2005

Research in Congenital Heart Disease: A Comparative Bibliometric Analysis Between Developing and Developed Countries ⬇️

scientific article published on August 10, 2012

Retinoids: a journey from the molecular structures and mechanisms of action to clinical uses in dermatology and adverse effects.

scientific article published on 20 March 2017

Role of glucagon-like peptide-1 analogues on insulin receptor regulation in diabetic rat hearts.

scientific article published in January 2010

SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.

scientific article published on 12 December 2017

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency

scientific article published on 03 December 2012

Statins Modulate Cyclooxygenase-2 and Microsomal Prostaglandin E Synthase-1 in Human Hepatic Myofibroblasts

scientific article

SuPAR, an emerging biomarker in kidney and inflammatory diseases

scientific article published on 03 September 2018

T-box factors: insights into the evolutionary emergence of the complex heart

scientific article published on September 19, 2011

TBX2 subfamily suppression in lung cancer pathogenesis: a high-potential marker for early detection.

scientific article published on 4 August 2017

The Kruppel-like transcription factor KLF13 is a novel regulator of heart development

scientific article

The Lebanese allele at the LDLR in normocholesterolemic people merits reconsideration of genotype phenotype correlations in familial hypercholesterolemia

scientific article published on 10 April 2012

The Muscle-Bound Heart.

scientific article published on March 2016

The Mutation P.T613a in the Pore Helix of the Kv 11.1 Potassium Channel is Associated with Long QT Syndrome.

scientific article

The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.

scientific article published on 20 April 2017

The status of pediatric cardiology at a tertiary center in Lebanon

scientific article published on July 1, 2011

Transcriptional activation of BMP-4 and regulation of mammalian organogenesis by GATA-4 and -6

scientific article (publication date: February 2003)

Transcriptomic Alterations in Lung Adenocarcinoma Unveil New Mechanisms Targeted by the TBX2 Subfamily of Tumor Suppressor Genes

article

Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.

scientific article

Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.

scientific article published on 17 July 2017

Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses

scientific article published on 01 November 2018

Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

scientific article published on 24 February 2016

Widespread expression of an extended peptide sequence of GATA-6 during murine embryogenesis and non-equivalence of RNA and protein expression domains

scientific article

Widespread expression of an extended peptide sequence of GATA-6 during murine embryogenesis and non-equivalence of RNA and protein expression domains

scientific article published on 01 December 2002

[Tbx5 and the heart adaptation to life on earth]

scientific article published on 01 August 2010

List of works by Georges Nemer

A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases.

A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans

A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot

A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.

A novel mutation in the gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis

A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

Absence of GJA1 gene mutations in four patients with anomalous left coronary artery from the pulmonary artery (ALCAPA)

Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

AutoDock and AutoDockTools for Protein-Ligand Docking: Beta-Site Amyloid Precursor Protein Cleaving Enzyme 1(BACE1) as a Case Study.

BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer

Bioexploration and Phylogenetic Placement of Entomopathogenic Fungi of the Genus Beauveria in Soils of Lebanon Cedar Forests

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Cooperative interaction between GATA5 and NF-ATc regulates endothelial-endocardial differentiation of cardiogenic cells.

Copper-adenine complex, a compound, with multi-biochemical targets and potential anti-cancer effect.

Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis

Diet, genetics, and disease: a focus on the middle East and north Africa region ⬇️

Differential duplication of an intronic region in the NFATC1 gene in patients with congenital heart disease

Distinct expression and function of alternatively spliced Tbx5 isoforms in cell growth and differentiation

Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease

Efficient and Accurate Algorithm for Cleaved Fragments Prediction (CFPA) in Protein Sequences Dataset Based on Consensus and Its Variants: A Novel Degradomics Prediction Application.

Electrostatic study of Alanine mutational effects on transcription: application to GATA-3:DNA interaction complex.

Epigenetic Suppression of the T-box Subfamily 2 () in Human Non-Small Cell Lung Cancer ⬇️

Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.

Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation

FOXI2: a possible gene contributing to ectodermal dysplasia

Familial hypercholesterolemia: the lipids or the genes? ⬇️

GATA4 loss-of-function mutations underlie familial tetralogy of fallot

GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.

Genetics of inherited cardiocutaneous syndromes: a review

Genome-wide gene expression changes in the normal-appearing airway during the evolution of smoking-associated lung adenocarcinoma.

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes

Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis

Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease

Immunodiagnosis of Prune dwarf virus using antiserum produced to its recombinant coat protein.

Impact of embryonic passaging of H9N2 virus on pathogenicity and stability of HA1- amino acid sequence cleavage site.

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

Integrative transcriptome analyses empower the anti-COVID-19 drug arsenal

Linezolid Toxicity and Mitochondrial Susceptibility: A Novel Neurological Complication in a Lebanese Patient

Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia

Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity

Novel Bioinformatics-Based Approach for Proteomic Biomarkers Prediction of Calpain-2 &Caspase-3 Protease Fragmentation: Application to βII-Spectrin Protein

Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension

Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1mutation

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia.

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype ⬇️

Regulation of de novo ceramide synthesis: the role of dihydroceramide desaturase and transcriptional factors NFATC and Hand2 in the hypoxic mouse heart

Regulation of the sphingolipid signaling pathways in the growing and hypoxic rat heart

Research in Congenital Heart Disease: A Comparative Bibliometric Analysis Between Developing and Developed Countries ⬇️

Retinoids: a journey from the molecular structures and mechanisms of action to clinical uses in dermatology and adverse effects.

Role of glucagon-like peptide-1 analogues on insulin receptor regulation in diabetic rat hearts.

SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency

Statins Modulate Cyclooxygenase-2 and Microsomal Prostaglandin E Synthase-1 in Human Hepatic Myofibroblasts

SuPAR, an emerging biomarker in kidney and inflammatory diseases

T-box factors: insights into the evolutionary emergence of the complex heart

TBX2 subfamily suppression in lung cancer pathogenesis: a high-potential marker for early detection.

The Kruppel-like transcription factor KLF13 is a novel regulator of heart development

The Lebanese allele at the LDLR in normocholesterolemic people merits reconsideration of genotype phenotype correlations in familial hypercholesterolemia

The Muscle-Bound Heart.

The Mutation P.T613a in the Pore Helix of the Kv 11.1 Potassium Channel is Associated with Long QT Syndrome.

The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.

The status of pediatric cardiology at a tertiary center in Lebanon

Transcriptional activation of BMP-4 and regulation of mammalian organogenesis by GATA-4 and -6

Transcriptomic Alterations in Lung Adenocarcinoma Unveil New Mechanisms Targeted by the TBX2 Subfamily of Tumor Suppressor Genes

Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.

Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.