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List of works by Karl Skorecki

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

scientific article published on 23 July 2015

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

scientific article

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

scientific article

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

scientific article published on 10 April 2013

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

scientific article published on 20 February 2017

APOL1 Nephropathy: A Population Genetics and Evolutionary Medicine Detective Story

scientific article published in November 2017

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

scientific article

APOL1 nephropathy: from gene to mechanisms of kidney injury

scientific article published on 05 January 2015

APOL1 risk variants enhance podocyte necrosis through compromising lysosomal membrane permeability

scientific article

APOL1 risk variants predict histopathology and progression to ESRD in HIV-related kidney disease

scientific article published on December 2011

APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes

scientific article published on 18 November 2016

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

scientific article published on 3 October 2011

Absence of HIV-associated nephropathy in Ethiopians

scientific article

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

scientific article

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

scientific article

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

scientific article published on October 22, 2003

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

scientific article published on 9 June 2015

Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J

scientific article

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

scientific article published on 14 December 2015

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

scientific article published on 19 May 2016

Body mass index in 1.2 million adolescents and risk for end-stage renal disease

scientific article

Cell lineage analysis of the mammalian female germline

scientific article

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

scientific article (publication date: March 2004)

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

scientific article published in 2008

Effect of APOL1 disease risk variants on APOL1 gene product

scientific article

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

scientific article

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

scientific article published on 29 April 2015

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

scientific article

Fetal programming of adult kidney disease: cellular and molecular mechanisms

scientific article published on 14 February 2007

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

scientific article

Gitelman's syndrome: a pathophysiological and clinical update

scientific article

Hematuria and risk for end-stage kidney disease

scientific article published on May 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

scientific article published on 13 July 2013

Hypertension-misattributed kidney disease in African Americans

scientific article published in January 2013

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

scientific article published on 06 September 2016

Israel: health and beyond

scientific article published on 05 May 2017

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

scientific article

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

scientific article

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

scientific article published on 19 June 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

scientific article (publication date: 4 August 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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

North Africans traveling north

scientific article published on 03 July 2013

On the Apportionment of Population Structure

scientific article

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

scientific article

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

scientific article

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.

scientific article published on 17 June 2015

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

scientific article

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

scientific article

Response

Sister chromatid separation at human telomeric regions

scientific article

Telomeres and telomerase in human health and disease

scientific article

The Druze: a population genetic refugium of the Near East

scientific article

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

scientific article published on 30 July 2015

The double-edged sword of evolution.

scientific article published on 3 July 2017

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

scientific article

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

scientific article published on 2 November 2017

The genome-wide structure of the Jewish people

scientific article

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

scientific article

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

scientific article

The population genetics of the Jewish people

scientific article

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

scientific article published on 18 March 2015

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