Lista de obras - Constantinos Deltas - Dominio Público Uruguay

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

artículo científico publicado en 2016

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population

artículo científico publicado en 2017

A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery, adaptation and apoptosis.

artículo científico publicado en 2013

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy

artículo científico publicado en 2012

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

artículo científico publicado en 2014

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)

artículo científico publicado en 1997

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

artículo científico publicado en 2016

Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies

artículo científico publicado en 2014

Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks

artículo científico

Analysis of published PKD1 gene sequence variants

article

Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity

article

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

artículo científico publicado en 2000

Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations

artículo científico publicado en 2000

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

artículo científico publicado en 2015

Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

artículo científico publicado en 2002

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

artículo científico

CNVs-microRNAs interactions demonstrate unique characteristics in the human genome. An interspecies in silico analysis

artículo científico publicado en 2013

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

artículo científico publicado en 2008

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

artículo científico publicado en 2015

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

artículo científico publicado en 2007

COL4A3/COL4A4Mutations Link Familial Hematuria and Focal Segmental Glomerulosclerosis. Glomerular Epithelium Destruction via Basement Membrane Thinning?

scientific article published on 01 January 2008

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

artículo científico publicado en 2015

Clinical Aspects of Cystinuria

artículo científico publicado en 1997

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn

artículo científico publicado en 2009

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

artículo científico publicado en 2015

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

artículo científico publicado en 2017

Correction: cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways.

artículo científico publicado en 2011

Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways

artículo científico publicado en 2010

Cystic diseases of the kidney: molecular biology and genetics

artículo científico publicado en 2010

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom

artículo científico publicado en 2007

Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology.

artículo científico publicado en 1997

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

artículo científico

Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual

artículo científico publicado en 1996

Description of the First Two Seemingly Unrelated Greek Cypriot Families with a Common C618R RET Proto-Oncogene Mutation

artículo científico publicado en 2004

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

article

Digenic inheritance and genetic modifiers

artículo científico publicado en 2017

Discovery of old diseases: the molecular approach

artículo científico publicado en 2003

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

artículo científico publicado en 2017

Epistatic role of the MYH9/APOL1 region on familial hematuria genes

artículo científico publicado en 2013

Evidence for Association of Endothelial Cell Nitric Oxide Synthase Gene Polymorphism with Earlier Progression to End-Stage Renal Disease in a Cohort of Hellens from Greece and Cyprus

article

Evidence for activation of the unfolded protein response in collagen IV nephropathies

artículo científico publicado en 2013

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria

article

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

artículo científico publicado en 2011

Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus

artículo científico publicado en 2002

Familial Mediterranean fever associated pyrin mutations in Greece ⬇️

artículo científico publicado el 1 de mayo de 2003

Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

artículo científico publicado en 2010

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing

artículo científico publicado en 2014

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

artículo científico publicado en 2017

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

artículo científico publicado en 2000

Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population

artículo científico publicado en 2014

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

artículo científico publicado en 2010

Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5

artículo científico publicado en 2012

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

artículo científico publicado en 2003

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

artículo científico publicado en 2015

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

artículo científico publicado en 2010

Increased Number of MicroRNA Target Sites in Genes Encoded in CNV Regions. Evidence for an Evolutionary Genomic Interaction

article

Is suppression of cyst growth in PKD enough to preserve renal function?: STAT6 inhibition is a novel promising target.

artículo científico publicado en 2012

Lack of association between endothelial nitric oxide synthase gene polymorphisms and risk of premature coronary artery disease in the Greek population

artículo científico publicado en 2008

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

artículo científico publicado en 1998

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

artículo científico publicado en 2006

Modification of the enzyme mismatch cleavage method using T7 endonuclease I and silver staining

scientific article published on 01 May 2004

Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.

artículo científico publicado en 2015

Molecular genetics of familial hematuric diseases

artículo científico publicado en 2013

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations

artículo científico publicado en 2014

Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.

artículo científico publicado en 2005

Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2.

artículo científico publicado en 2008

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

artículo científico publicado en 2008

New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles

article

New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney

artículo científico publicado en 2014

Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

artículo científico publicado en 2001

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

scientific article published on 01 September 2001

Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model

artículo científico publicado en 2017

On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations'.

artículo científico publicado en 2013

Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1

artículo científico publicado en 2003

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

artículo científico publicado en 1996

RAAS inhibition and the course of Alport syndrome

artículo científico publicado en 2016

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2

artículo científico publicado en 2011

RNA Intereference: a powerful laboratory tool and its therapeutic implications

artículo científico publicado en 2006

Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

artículo científico publicado en 2001

Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1

artículo científico publicado en 2013

Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population

scientific article published on 01 June 2009

Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.

artículo científico publicado en 2009

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and ade novo mutation in Hellenic polycystic kidney disease families

artículo científico publicado en 2000

Serum total homocysteine, folate, 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T genotype and subclinical atherosclerosis

artículo científico publicado en 2009

The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure

artículo científico publicado en 2005

The cypriot and Iranian National Mutation Frequency Databases.

artículo científico publicado en 2006

The role of molecular genetics in diagnosing familial hematuria(s).

artículo científico publicado en 2011

Thin basement membrane nephropathy: is there genetic predisposition to more severe disease?

artículo científico publicado en 2008

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

artículo científico publicado en 2014

X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

artículo científico publicado en 2011

X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure

artículo científico publicado en 2013

Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements

artículo científico publicado en 2016

ccRCC is fundamentally a metabolic disorder.

artículo científico publicado en 2014

microRNAs: a newly described class of encoded molecules that play a role in health and disease

artículo científico publicado en 2010

Lista de obras de Constantinos Deltas

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population

A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery, adaptation and apoptosis.

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies

Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks

Analysis of published PKD1 gene sequence variants

Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

CNVs-microRNAs interactions demonstrate unique characteristics in the human genome. An interspecies in silico analysis

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

COL4A3/COL4A4Mutations Link Familial Hematuria and Focal Segmental Glomerulosclerosis. Glomerular Epithelium Destruction via Basement Membrane Thinning?

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

Clinical Aspects of Cystinuria

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidn

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

Correction: cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways.

Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways

Cystic diseases of the kidney: molecular biology and genetics

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom

Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology.

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual

Description of the First Two Seemingly Unrelated Greek Cypriot Families with a Common C618R RET Proto-Oncogene Mutation

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

Digenic inheritance and genetic modifiers

Discovery of old diseases: the molecular approach

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

Epistatic role of the MYH9/APOL1 region on familial hematuria genes

Evidence for Association of Endothelial Cell Nitric Oxide Synthase Gene Polymorphism with Earlier Progression to End-Stage Renal Disease in a Cohort of Hellens from Greece and Cyprus

Evidence for activation of the unfolded protein response in collagen IV nephropathies

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus

Familial Mediterranean fever associated pyrin mutations in Greece ⬇️

Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

Increased Number of MicroRNA Target Sites in Genes Encoded in CNV Regions. Evidence for an Evolutionary Genomic Interaction

Is suppression of cyst growth in PKD enough to preserve renal function?: STAT6 inhibition is a novel promising target.

Lack of association between endothelial nitric oxide synthase gene polymorphisms and risk of premature coronary artery disease in the Greek population

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

Modification of the enzyme mismatch cleavage method using T7 endonuclease I and silver staining

Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.

Molecular genetics of familial hematuric diseases

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations

Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.

Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2.

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles

New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney

Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model

On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations'.

Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

RAAS inhibition and the course of Alport syndrome

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2

RNA Intereference: a powerful laboratory tool and its therapeutic implications

Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region