Karl Skorecki

Summary

Affiliation: Technion-Israel Institute of Technology
Country: Israel

Publications

  1. ncbi Hypertension-misattributed kidney disease in African Americans
    Karl L Skorecki
    Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Rambam Health Care Campus, Haifa, Israel
    Kidney Int 83:6-9. 2013
  2. ncbi 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
    Shay Tzur
    Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, 31096, Israel
    BMC Nephrol 13:142. 2012
  3. ncbi Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood
    Michael F Hammer
    ARL Division of Biotechnology, University of Arizona, Tucson, AZ 85721, USA
    Hum Genet 126:707-17. 2009
  4. ncbi Admixture mapping of end stage kidney disease genetic susceptibility using estimated mutual information ancestry informative markers
    Liran I Shlush
    Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology and Rambam Medical Center, Haifa 31096, Israel
    BMC Med Genomics 3:47. 2010
  5. ncbi Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations
    Doron M Behar
    Bruce Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
    Hum Genet 114:354-65. 2004
  6. ncbi Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
    Daniella Magen
    Pediatric Nephrology Unit, Rambam Health Care Campus, Haifa 31096, Israel
    Am J Hum Genet 83:30-42. 2008
  7. ncbi The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males
    Shai Rosenberg
    Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    Hum Genet 120:447-59. 2006
  8. ncbi 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
    Shay Tzur
    Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    Nephrol Dial Transplant 27:1498-505. 2012
  9. ncbi The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event
    Doron M Behar
    Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
    Am J Hum Genet 78:487-97. 2006
  10. ncbi Absence of HIV-associated nephropathy in Ethiopians
    Doron M Behar
    Department of Critical Care Medicine, The Bruce Rappaport Faculty of Medicine and Research Institute, Haifa, Israel
    Am J Kidney Dis 47:88-94. 2006

Collaborators

Detail Information

Publications31

  1. ncbi Hypertension-misattributed kidney disease in African Americans
    Karl L Skorecki
    Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Rambam Health Care Campus, Haifa, Israel
    Kidney Int 83:6-9. 2013
    ..The findings mandate urgency in clarifying mechanisms whereby APOL1 region risk variants interact with environmental triggers to cause progressive kidney disease accompanied by dangerous hypertension...
  2. ncbi 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
    Shay Tzur
    Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, 31096, Israel
    BMC Nephrol 13:142. 2012
    ..A recent meta-analysis described a variant (p.Ile2984Val) in the cubilin gene (CUBN) that is associated with levels of albuminuria in the general population and in diabetics...
  3. ncbi Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood
    Michael F Hammer
    ARL Division of Biotechnology, University of Arizona, Tucson, AZ 85721, USA
    Hum Genet 126:707-17. 2009
    ....
  4. ncbi Admixture mapping of end stage kidney disease genetic susceptibility using estimated mutual information ancestry informative markers
    Liran I Shlush
    Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology and Rambam Medical Center, Haifa 31096, Israel
    BMC Med Genomics 3:47. 2010
    ..In the current study we utilize this example to demonstrate the utility of applying a multi-step admixture mapping approach...
  5. ncbi Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations
    Doron M Behar
    Bruce Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
    Hum Genet 114:354-65. 2004
    ..This reduced effective population size may explain the high incidence of founder disease mutations despite overall high levels of NRY diversity...
  6. ncbi Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
    Daniella Magen
    Pediatric Nephrology Unit, Rambam Health Care Campus, Haifa 31096, Israel
    Am J Hum Genet 83:30-42. 2008
    ..These findings should help to clarify the important role of Hsp60 in myelinogenesis and neurodegeneration...
  7. ncbi The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males
    Shai Rosenberg
    Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    Hum Genet 120:447-59. 2006
    ..This study is used to address the validation, interpretation and limitation of genetic association studies of quantitative behavioural traits...
  8. ncbi 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
    Shay Tzur
    Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    Nephrol Dial Transplant 27:1498-505. 2012
    ....
  9. ncbi The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event
    Doron M Behar
    Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
    Am J Hum Genet 78:487-97. 2006
    ..We conclude that four founding mtDNAs, likely of Near Eastern ancestry, underwent major expansion(s) in Europe within the past millennium...
  10. ncbi Absence of HIV-associated nephropathy in Ethiopians
    Doron M Behar
    Department of Critical Care Medicine, The Bruce Rappaport Faculty of Medicine and Research Institute, Haifa, Israel
    Am J Kidney Dis 47:88-94. 2006
    ..This finding emphasizes the importance of avoiding generalizations with respect to phylogeographic ancestry in disease-susceptibility studies...
  11. ncbi Quantitative digital in situ senescence-associated β-galactosidase assay
    Liran I Shlush
    Laboratory of Molecular Medicine, Rappaport Faculty of Medicine and Research Institute, Technion, Haifa, Israel
    BMC Cell Biol 12:16. 2011
    ..Furthermore the role of cellular senescence (CS) in vivo remains unclear mainly due to the ambiguity of current cellular markers in identifying CS of individual cells in tissues...
  12. ncbi Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
    Shay Tzur
    Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    Hum Genet 128:345-50. 2010
    ....
  13. ncbi MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population
    Doron M Behar
    Bruce Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
    Eur J Hum Genet 12:355-64. 2004
    ..A genetic bottleneck followed by the recent phenomenon of rapid population growth are likely to have produced the conditions that led to the high frequency of many genetic disease alleles in the Ashkenazi population...
  14. ncbi Absence of APOL1 risk variants protects against HIV-associated nephropathy in the Ethiopian population
    Doron M Behar
    Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel
    Am J Nephrol 34:452-9. 2011
    ....
  15. ncbi African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans
    Doron M Behar
    Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel
    Hum Mol Genet 19:1816-27. 2010
    ....
  16. ncbi Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J
    Liran I Shlush
    Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    PLoS ONE 3:e3425. 2008
    ....
  17. ncbi Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein
    Ilana Chefetz
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    J Invest Dermatol 128:1423-9. 2008
    ..These data link NFTC and SAMD9 to the TNF-alpha signaling pathway, suggesting a role for this system in the regulation of extra-osseous calcification...
  18. ncbi A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria
    Daniella Magen
    Pediatric Nephrology Unit, Meyer Children s Hospital, Rambam Medical Center, Haifa, Israel
    Kidney Int 67:34-41. 2005
    ..The purpose of this study was to examine the phenotypic and genetic characteristics of three unrelated consanguineous families with FRG accompanied by aminoaciduria...
  19. ncbi Cell lineage analysis of acute leukemia relapse uncovers the role of replication-rate heterogeneity and microsatellite instability
    Liran I Shlush
    Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    Blood 120:603-12. 2012
    ..In conclusion, diverse relapse mechanisms can be observed by systematic reconstruction of cell lineage trees of patients with leukemia...
  20. ncbi The Druze: a population genetic refugium of the Near East
    Liran I Shlush
    Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    PLoS ONE 3:e2105. 2008
    ..Phylogenetic mitochondrial DNA haplogroups are highly partitioned across global geographic regions. A unique exception is the X haplogroup, which has a widespread global distribution without major regions of distinct localization...
  21. ncbi Population genetics of chronic kidney disease: the evolving story of APOL1
    Walter G Wasser
    Division of Nephrology, Rambam Health Care Campus, Haifa, Israel
    J Nephrol 25:603-18. 2012
    ..Still awaited is the delineation of the biologic mechanisms of cellular injury related to these variants, to provide biologic proof of the APOL1 association and to provide potential targets for preventive and therapeutic intervention...
  22. ncbi The genome-wide structure of the Jewish people
    Doron M Behar
    Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel
    Nature 466:238-42. 2010
    ..These results cast light on the variegated genetic architecture of the Middle East, and trace the origins of most Jewish Diaspora communities to the Levant...
  23. ncbi Intratumoral heterogeneity in the self-renewal and tumorigenic differentiation of ovarian cancer
    Sagi Abelson
    Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    Stem Cells 30:415-24. 2012
    ..The hESC-based in vivo model renders intratumoral heterogeneity in the self-renewal and tumorigenic differentiation amenable to biological analysis as well as anticancer therapy testing...
  24. ncbi Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries
    Doron M Behar
    Bruce Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
    Am J Hum Genet 73:768-79. 2003
    ....
  25. ncbi Role of haptoglobin phenotype in end-stage kidney disease
    Zvi Burbea
    Department of Nephrology, Rambam Medical Center, Haifa, Israel
    Nephron Exp Nephrol 97:e71-6. 2004
    ....
  26. ncbi Reprogramming of telomeric regions during the generation of human induced pluripotent stem cells and subsequent differentiation into fibroblast-like derivatives
    Shiran Yehezkel
    Molecular Medicine Laboratory, Faculty of Medicine and Research Institute, Rambam Health Care Campus and Rappaport, Technion Israel Institute of Technology, Haifa, Israel
    Epigenetics 6:63-75. 2011
    ..We suggest that TERRA may play a role in regulation of appropriate telomere function and length in hiPS cells...
  27. ncbi A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome
    Daniella Magen
    Pediatric Nephrology Unit, Rambam Health Care Campus, Haifa, Israel
    N Engl J Med 362:1102-9. 2010
    ..These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling...
  28. ncbi Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora
    Doron M Behar
    Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel
    PLoS ONE 3:e2062. 2008
    ..These findings highlight striking differences in the demographic history of the widespread Jewish Diaspora...
  29. ncbi An academic medical center under prolonged rocket attack--organizational, medical, and financial considerations
    Yaron Bar-El
    Rambam Medical Center, Rambam Health Care Campus, Haifa, Israel
    Acad Med 84:1203-10. 2009
    ....
  30. ncbi Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
    Shiran Yehezkel
    Department of Nephrology and Laboratory of Molecular Medicine, Rambam Medical Center and Rappaport Faculty of Medicine and Research Institute, Technion, Haifa 31096, Israel
    Hum Mol Genet 17:2776-89. 2008
    ..The current findings provide a mechanistic explanation for the abnormal telomeric phenotype observed in ICF syndrome and highlights the link between TERRA/TelRNA and structural telomeric integrity...
  31. ncbi Fetal programming of adult kidney disease: cellular and molecular mechanisms
    Dov Hershkovitz
    Laboratory of Molecular Medicine, Rambam Health Care Campus, Technion Israel Institute of Technology, Haifa, Israel
    Clin J Am Soc Nephrol 2:334-42. 2007