Lista de obras - Konstantinos Voskarides - 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 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

Animal-to-Human Viral Transitions: Is SARS-CoV-2 an Evolutionary Successful One?

scientific article published on 06 May 2020

Antagonistic Pleiotropy in Human Disease

artículo científico publicado en 2019

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 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

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

Combination of 247 genome-wide association studies reveals high cancer risk as a result of evolutionary adaptation

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Directed Evolution. The Legacy of a Nobel Prize

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Editorial: A New Bright Era for Evolutionary Medicine

scientific article published on 11 December 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Evidence for contribution of the y chromosome in atherosclerotic plaque occurrence in men.

artículo científico publicado en 2014

Evidence that DNA repair genes, a family of tumor suppressor genes, are associated with evolution rate and size of genomes.

artículo científico publicado en 2019

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

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

GWAS studies reveal a possible genetic link between cancer and suicide attempt

scientific article published on 04 December 2019

Genes that improved fitness also cost modern humans: evidence for genes with antagonistic effects on longevity and disease

article

Genetic epidemiology of cancer predisposition DNA repair genes is probably related with ancestral surviving under adverse environmental conditions

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Group Selection May Explain Cancer Predisposition and Other Human Traits’ Evolution

scientific article published on 05 April 2018

Homo sapiens exhibit a distinct pattern of CNV genes regulation: an important role of miRNAs and SNPs in expression plasticity

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

Influenza Virus-Host Co-evolution. A Predator-Prey Relationship?

scientific article published on 07 September 2018

Ischemic but not mechanical preconditioning attenuates ischemia/reperfusion induced myocardial apoptosis in anaesthetized rabbits: the role of Bcl-2 family proteins and ERK1/2.

artículo científico publicado en 2006

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

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

artículo científico publicado en 2008

Plasticity vs Mutation. The role of microRNAs in human adaptation

artículo científico publicado en 2017

Residual renal function in hemodialysis patients: the role of Angiotensin-converting enzyme inhibitor in its preservation.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

The "cancer-cold" hypothesis and possible extensions for the Nordic populations

scientific article published on 28 February 2019

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

artículo científico publicado en 2011

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 and cardiovascular risk: What are we missing?

artículo científico publicado en 2017

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

artículo científico publicado en 2016

‘Plasticity-First’ Evolution and the Role of miRNAs: A Comment on Levis and Pfennig

artículo científico publicado en 2016

Lista de obras de Konstantinos Voskarides

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 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

Animal-to-Human Viral Transitions: Is SARS-CoV-2 an Evolutionary Successful One?

Antagonistic Pleiotropy in Human Disease

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 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?

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

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

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.

Combination of 247 genome-wide association studies reveals high cancer risk as a result of evolutionary adaptation

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

Directed Evolution. The Legacy of a Nobel Prize

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

Editorial: A New Bright Era for Evolutionary Medicine

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

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

Evidence for contribution of the y chromosome in atherosclerotic plaque occurrence in men.

Evidence that DNA repair genes, a family of tumor suppressor genes, are associated with evolution rate and size of genomes.

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

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.

GWAS studies reveal a possible genetic link between cancer and suicide attempt

Genes that improved fitness also cost modern humans: evidence for genes with antagonistic effects on longevity and disease

Genetic epidemiology of cancer predisposition DNA repair genes is probably related with ancestral surviving under adverse environmental conditions

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

Group Selection May Explain Cancer Predisposition and Other Human Traits’ Evolution

Homo sapiens exhibit a distinct pattern of CNV genes regulation: an important role of miRNAs and SNPs in expression plasticity

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

Influenza Virus-Host Co-evolution. A Predator-Prey Relationship?

Ischemic but not mechanical preconditioning attenuates ischemia/reperfusion induced myocardial apoptosis in anaesthetized rabbits: the role of Bcl-2 family proteins and ERK1/2.

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

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

Plasticity vs Mutation. The role of microRNAs in human adaptation

Residual renal function in hemodialysis patients: the role of Angiotensin-converting enzyme inhibitor in its preservation.

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

The "cancer-cold" hypothesis and possible extensions for the Nordic populations

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

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

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

Y chromosome and cardiovascular risk: What are we missing?

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

‘Plasticity-First’ Evolution and the Role of miRNAs: A Comment on Levis and Pfennig