Lista de obras - Karl Skorecki - Dominio Público Uruguay

A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews

artículo científico publicado en 2015

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome

artículo científico publicado en 2010

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria

artículo científico publicado en 2005

A novel model for evaluating therapies targeting human tumor vasculature and human cancer stem-like cells

artículo científico publicado en 2013

A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy

artículo científico publicado en 2017

APOL1 Nephropathy: A Population Genetics and Evolutionary Medicine Detective Story

artículo científico publicado en 2017

APOL1 Risk Variants Predict Histopathology and Progression to ESRD in HIV-Related Kidney Disease ⬇️

artículo científico publicado el 1 de diciembre de 2011

APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kidney disease ⬇️

artículo científico publicado el 22 de febrero de 2012

APOL1 nephropathy: from gene to mechanisms of kidney injury

artículo científico

APOL1 risk variants enhance podocyte necrosis through compromising lysosomal membrane permeability

artículo científico publicado en 2014

APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes

artículo científico publicado en 2016

Absence of APOL1 risk variants protects against HIV-associated nephropathy in the Ethiopian population

artículo científico publicado en 2011

Absence of HIV-associated nephropathy in Ethiopians

artículo científico publicado en 2006

Admixture mapping of end stage kidney disease genetic susceptibility using estimated mutual information ancestry informative markers.

artículo científico publicado en 2010

African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans

artículo científico publicado en 2010

An experimental platform for studying growth and invasiveness of tumor cells within teratomas derived from human embryonic stem cells ⬇️

artículo científico publicado el 22 de octubre de 2003

Apolipoprotein L1 (APOL1) Variants (Vs) a possible link between Heroin-associated Nephropathy (HAN) and HIV-associated Nephropathy (HIVAN)

artículo científico publicado en 2015

Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J

artículo científico publicado en 2008

Association of APOL1 Genotype with Renal Histology among Black HIV-Positive Patients Undergoing Kidney Biopsy

artículo científico publicado en 2015

Beyond APOL1: Genetic Inroads into Understanding Population Disparities in Diabetic Kidney Disease

artículo científico publicado en 2016

Body Mass Index in 1.2 Million Adolescents and Risk for End-Stage Renal Disease ⬇️

artículo científico publicado el 26 de noviembre de 2012

Cell lineage analysis of the mammalian female germline

artículo científico publicado en 2012

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

artículo científico publicado en 2004

Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora

artículo científico publicado en 2008

Effect of APOL1 disease risk variants on APOL1 gene product

artículo científico publicado en 2017

Evidence for positive selection and population structure at the human MAO-A gene

artículo científico publicado en 2002

Exon 4-encoded sequence is a major determinant of cytotoxicity of apolipoprotein L1

artículo científico publicado en 2015

Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood ⬇️

artículo científico publicado en 2009

Fetal programming of adult kidney disease: cellular and molecular mechanisms

artículo científico publicado en 2007

Gene-gene and gene-environment interactions in apolipoprotein L1 gene-associated nephropathy

artículo científico publicado en 2014

Gitelman's syndrome: a pathophysiological and clinical update ⬇️

artículo científico publicado el 15 de noviembre de 2011

Hematuria and risk for end-stage kidney disease ⬇️

artículo científico publicado el 1 de mayo de 2013

High Population Frequencies of APOL1 Risk Variants Are Associated with Increased Prevalence of Non-Diabetic Chronic Kidney Disease in the Igbo People from South-Eastern Nigeria ⬇️

artículo científico publicado el 13 de julio de 2013

Hypertension-misattributed kidney disease in African Americans ⬇️

artículo científico publicado el 1 de enero de 2013

Impact of APOL1 polymorphism and IL-1β priming in the entry and persistence of HIV-1 in human podocytes

artículo científico publicado en 2016

Israel: health and beyond

artículo científico

Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations ⬇️

artículo científico publicado el 31 de octubre de 2012

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

artículo científico publicado en 2010

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

artículo científico publicado en 2008

Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans

artículo científico publicado en 2005

Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans

artículo científico publicado en 2004

MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population

artículo científico publicado en 2004

Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries

artículo científico publicado en 2003

Niche-dependent gene expression profile of intratumoral heterogeneous ovarian cancer stem cell populations

artículo científico publicado en 2013

No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews

artículo científico publicado en 2013

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein

artículo científico publicado en 2007

North Africans traveling north ⬇️

artículo científico publicado el 3 de julio de 2013

On the Apportionment of Population Structure

artículo científico publicado en 2016

Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites

artículo científico publicado en 2013

Population genetics of chronic kidney disease: the evolving story of APOL1.

artículo científico publicado en 2012

Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris

Protein domains of APOL1 and its risk variants.

artículo científico publicado en 2015

Quantitative digital in situ senescence-associated β-galactosidase assay ⬇️

artículo científico publicado en 2011

Reprogramming of telomeric regions during the generation of human induced pluripotent stem cells and subsequent differentiation into fibroblast-like derivatives

artículo científico publicado en 2011

Response

Sister chromatid separation at human telomeric regions

artículo científico publicado en 2004

Telomeres and telomerase in human health and disease

artículo científico publicado en 2002

The Druze: a population genetic refugium of the Near East

artículo científico publicado en 2008

The Envy of Scholars: Applying the Lessons of the Framingham Heart Study to the Prevention of Chronic Kidney Disease

artículo científico publicado en 2015

The double-edged sword of evolution.

artículo científico publicado en 2017

The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula

artículo científico publicado en 2008

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome

artículo científico publicado en 2017

The genome-wide structure of the Jewish people

artículo científico publicado en 2010

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event ⬇️

artículo científico publicado en 2006

The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus ⬇️

artículo científico publicado el 3 de mayo de 2011

The population genetics of the Jewish people ⬇️

artículo científico publicado el 10 de octubre de 2012

Vascular smooth muscle cells contribute to APOL1-induced podocyte injury in HIV milieu

artículo científico publicado en 2015

Lista de obras de Karl Skorecki

A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria

A novel model for evaluating therapies targeting human tumor vasculature and human cancer stem-like cells

A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy

APOL1 Nephropathy: A Population Genetics and Evolutionary Medicine Detective Story

APOL1 Risk Variants Predict Histopathology and Progression to ESRD in HIV-Related Kidney Disease ⬇️

APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kidney disease ⬇️

APOL1 nephropathy: from gene to mechanisms of kidney injury

APOL1 risk variants enhance podocyte necrosis through compromising lysosomal membrane permeability

APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes

Absence of APOL1 risk variants protects against HIV-associated nephropathy in the Ethiopian population

Absence of HIV-associated nephropathy in Ethiopians

Admixture mapping of end stage kidney disease genetic susceptibility using estimated mutual information ancestry informative markers.

African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans

An experimental platform for studying growth and invasiveness of tumor cells within teratomas derived from human embryonic stem cells ⬇️

Apolipoprotein L1 (APOL1) Variants (Vs) a possible link between Heroin-associated Nephropathy (HAN) and HIV-associated Nephropathy (HIVAN)

Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J

Association of APOL1 Genotype with Renal Histology among Black HIV-Positive Patients Undergoing Kidney Biopsy

Beyond APOL1: Genetic Inroads into Understanding Population Disparities in Diabetic Kidney Disease

Body Mass Index in 1.2 Million Adolescents and Risk for End-Stage Renal Disease ⬇️

Cell lineage analysis of the mammalian female germline

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora

Effect of APOL1 disease risk variants on APOL1 gene product

Evidence for positive selection and population structure at the human MAO-A gene

Exon 4-encoded sequence is a major determinant of cytotoxicity of apolipoprotein L1

Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood ⬇️

Fetal programming of adult kidney disease: cellular and molecular mechanisms

Gene-gene and gene-environment interactions in apolipoprotein L1 gene-associated nephropathy

Gitelman's syndrome: a pathophysiological and clinical update ⬇️

Hematuria and risk for end-stage kidney disease ⬇️

High Population Frequencies of APOL1 Risk Variants Are Associated with Increased Prevalence of Non-Diabetic Chronic Kidney Disease in the Igbo People from South-Eastern Nigeria ⬇️

Hypertension-misattributed kidney disease in African Americans ⬇️

Impact of APOL1 polymorphism and IL-1β priming in the entry and persistence of HIV-1 in human podocytes

Israel: health and beyond

Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations ⬇️

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans

Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans

MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population

Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries

Niche-dependent gene expression profile of intratumoral heterogeneous ovarian cancer stem cell populations

No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein

North Africans traveling north ⬇️

On the Apportionment of Population Structure

Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites

Population genetics of chronic kidney disease: the evolving story of APOL1.

Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris

Protein domains of APOL1 and its risk variants.

Quantitative digital in situ senescence-associated β-galactosidase assay ⬇️

Reprogramming of telomeric regions during the generation of human induced pluripotent stem cells and subsequent differentiation into fibroblast-like derivatives

Response

Sister chromatid separation at human telomeric regions

Telomeres and telomerase in human health and disease

The Druze: a population genetic refugium of the Near East

The Envy of Scholars: Applying the Lessons of the Framingham Heart Study to the Prevention of Chronic Kidney Disease

The double-edged sword of evolution.

The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome

The genome-wide structure of the Jewish people

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event ⬇️

The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus ⬇️

The population genetics of the Jewish people ⬇️

Vascular smooth muscle cells contribute to APOL1-induced podocyte injury in HIV milieu