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Faculty > Faculty Alphabetical > Shashikant Kulkarni, PhDAssistant Professor, Pathology and Immunology
Medical Director, CytoGenomics
4320 Forest Park Blvd., Cortex Building, 2nd Floor, Room 209
Office: (314) 454-8418
Lab: 314-362-2258
E-mail: skulkarni@path.wustl.edu
Web-site: http://cytogenomics.wustl.edu
Pub Med Search | |
Research
| | Our lab's principle research interest is delineation of novel CHROMOSOMAL STRUCTURAL VARIANTS and how they relate to structural birth defects, mental retardation and hematological neoplasms.
Our focused interest is in studying the GENOMIC VARIANTS in HEMIFACIAL MICROSOMIA and MULTIPLE MYELOMA.
We use genome-wide tools for the molecular characterization of structural chromosomal anomalies associated with human development and cancer. Microarray based whole-genome analysis of copy number has revolutionized cytogenetics in research and clinical diagnostic laboratories. These analyses achieve a kilobase-level resolution, a MAJOR LEAP forward as compared to the megabase-level resolution for conventional chromosome analysis.
Specifically our approach is to study:
1) Dosage-sensitive Copy number changes (CNCs): We use reverse genomic approaches, "Genomotype-Phenotype" associations, to enhance our understanding of genomic disorders. Deciphering these subtle changes with profound phenotypic consequences, will help us to design optimal diagnostic and possible future therapeutic approaches.
2) Copy number neutral rearrangements of chromosomes (balanced translocations, inversions, insertions): These have long been recognized as a major cause of developmental delay, mental retardation, birth defects and cancer.
These CHROMOSOMAL STRUCTURAL VARIANTS associated with developmental, neurological and neoplastic disorders serve as "SIGN-POSTS" for genes responsible for human disease.
Characterization of these valuable resources for gene discovery in congenital anomalies and cancer are helping us understand the genetic basis of human development as well as provide new diagnostic and prognostic markers in cancer.
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Editorial Responsibilities
| | 2001 - Present | Peer reviewer | Blood | | 1998 - Present | Peer reviewer | Bone Marrow Transplanatation | | | | | | | | | | | | |
Service to the Department
| | 2008 - Present | Director, American Board of Medical Genetics (ABMG) fellowship training program | | 2006 - Present | Director, CytoGenomics and Molecular Pathology | | 2006 - Present | Director, Clinical and Molecular Cytogenetics Core | | 2006 - Present | Assistant Professor of Pathology and Immunology | | | | | | |
Service to the University
| | 2009 - Present | Member, Siteman Cancer Center | | 2009 - Present | Executive Committee of the Faculty Council (ECFC)- Clinical Department Representative | | 2006 - Present | Collaborator, Core Resource (CDI) – Affymetrix Core Structural Chromosomal Variants in Children with Congenital Anomalies, Children | | 2006 - Present | Lecturer, Human Genetic Course, Washington University | | 2006 - Present | Genomics Curriculum Working Group- to develop a genomics curriculum plan for medical students | | 2006 - Present | Assistant Professor, Genetics and Genomic Medicine, Pediatrics | | | | | | | | | | | | | | | |
Diagnostic Expertise
| | Clinical and Molecular Cytogenetics: Cancer, prenatal and constitutional | | Genomic Copy Number Analysis | | |
Clinical Interest
| | Laboratory and Genomic Medicine - Molecular Pathology | | Laboratory and Genomic Medicine - DNA Diagnostics |
Selected Publications
| | Zhang B, Chang B, Fu M, Huang J, Kashyap R, Salavaggione E, Jain S, Kulkarni S, Deardorff MA, Uzielli MLG, Dorsett D, Beebe DC, Jay PY, Heuckeroth RO, Krantz I, and Milbrandt J. Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies. PLoS ONE, 2009 4(5): e5232. doi:10.1371/journal.pone.0005232, 2009 Abstract
| | McDonald S, Wilson DB, Pumbo E, Kulkarni S, Mason PJ, Else T, Bessler M, Ferkol T and Shenoy S. Acquired Monosomy 7 Myelodysplastic Syndrome in a Child with Clinical Features Suggestive of Dyskeratosis Congenita and IMAGe Association. Pediatr Blood Cancer. 2009 Sep 16;54(1):154-157. [Epub ahead of print], 2009 Abstract
| | Hamvas A. Nogee LM, Wegner DJ, DePass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS. Inherited surfactant deficiency due to uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily A, member 3 genes. J Pediatr. 2009 Jul 31, 2009 Abstract
| | Mahowald GK, Baron JM, Mahowald MA, Moon C, Bassing CH, Kulkarni S, Bredemeyer A and Sleckman BP. Breakpoint target restrictions for aberrantly resolved DNA double stranded breaks in ATM-deficient lymphocytes. Proc Natl Acad Sci U S A. 2009 Oct 27;106(43):18339-44. Epub 2009 Oct 9, 2009 Abstract
| | Kulkarni S, Nagarajan P, Wall J, Donovan D, Donell RL, Ligon AH, Venkatachalam S, Quade BJ. Disruption Of Chromodomain Helicase DNA Binding Protein 2 (CHD2) Causes Scoliosis. Am J Med Genet 2008 May 1;146A(9):1117-27, 2008 Abstract
| | Saharia A, Guittat L, Crocker S, Lim A, Steffen M, Kulkarni S, Stewart SA.. Flap Endonuclease-1 Contributes To Telomere Stability. Current Biology, 2008 Apr 8;18(7):496-500., 2008 Abstract
| | Kulkarni S and Pfeiffer J. Cytogenetics. Book Chapter in The Washington Manual of Surgical Pathology, 1e edited by Humphrey, Pfeifer, and Dehner. Publisher: Lippincott Williams, June 2008., 2008
| | Higgins AW, Alkuraya FS, Bosco AF, Bruns, GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Kocher KM, Korf BR, Kulkarni S, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Mass RL, MacD. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.. American Journal of Human Genetics, 82, 712-722, 2008 Abstract
| | Klco JM, Kreisel FH, Zehnbauer BA, Kulkarni S, Hassan A, Frater JL. The spectrum of adult B-lymphoid leukemias with BCR-ABL: molecular diagnostic, cytogenetic, and clinical laboratory perspectives. Am J Hematol. 2008 Sep 19. [Epub ahead of print], 2008 Abstract
| | Lu W, van Eerde AM, Fan X, Quintero-Rivera, Kulkarni S, Ferguson H, Kim H, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather S, Woolf AS, Rao Y, Lupski J, Quade BJ, Gusella JF, Morton CCand Maas R. Disruption of ROBO2 is associated with congenital anomalies of the kidney and urinary tract and confers risk of vesicoureteral reflux. Am J Hum Genet: 80(4): 616-32, 2007 Abstract
| | Goldman F, Bouharich R , Kulkarni S, Freeman S , Du H, Harrington H, Mason PJ, Vallejo A, Bessler M. The effect of TERC haploinsufficiency on the inheritance of telomere length. Proc Natl Acad Sci USA : 102(47): 17119-17124., 2005 Abstract
| | Knudson M, Kulkarni S, Ballas K, Bessler M, and Goldman F. Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. Blood: 105: 682-688, 2005 Abstract
| | Mochizuki Y, He J, Kulkarni S, Bessler M, Mason PJ. Mouse dyskerin mutations affecting mTERC levels, telomerase activity and ribosomal RNA processing. Proc Natl Acad Sci USA : 101(29): 10756-10761, 2004 Abstract
| | Kulkarni S, Bessler M. Effect of proinflammatory cytokines on PIGA- hematopoiesis. Experimental Hematology:31(9): 770-778, 2003 Abstract
| | Baxter EJ, Kulkarni S, Vizmanos JL, Jaju R, Martinelli G, Testoni N, Hughes G, Calasanz MJ, Lahortiga I, Pocock CF, Dang R, Fidler C, Wainscoat JS, Boultwood J, Cross NCP. Novel translocations that disrupt the platelet-derived growth factor receptor â (PDGFR â) gene in BCR-ABL negative chronic myeloproliferative disorders. British Journal of Hematology: 120: 251-256, 2003 Abstract
| | Kulkarni S, Bessler M. The effect of GPI-linked deficiency on apoptosis in mice carrying a Piga gene in hematopoietic cells. Journal of Leukocyte Biology: 72(6): 1228-33, 2002 Abstract
| | Bessler M, Kulkarni S, Jasinski M, Schaefer A, Keller P and Tremml G. Mice with blood cells deficient in GPI-linked proteins - The generation of murine model to investigate the pathogenesis and pathophysiology of Paroxysmal Nocturnal Hemoglobinuria (PNH). Book Chapter in Paroxysmal Nocturnal Hemoglobinuria (PNH) and Related Disorders-Molecular Aspects of Pathogenesis; 27-41. Springer Veralg Publications, 2001
| | Kulkarni S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF, Kaeda J, Cwynarski K, Goldman JM, Cross NC. Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21). Cancer Res: 60(13): 3592-3598, 2000 Abstract
| | Kulkarni S, Reiter A, Smedley D, Goldman JM, Cross NCP. The complete genomic structure of ZNF198 and the localisation of breakpoints in t(8;13) myeloproliferative disorders. Genomics: 55: 118-121, 1999 Abstract
| | Kulkarni S* , Grand F*, Chase A, Goldman JM, Gordon M, Cross NC.. Frequent deletion of hSNF5/INI1, a component of the SWI/SNF complex, in chronic myeloid leukemia.. Cancer Res. 1999 Aug 15;59(16):3870-4., 1999 Abstract
| | How GF, Lim LC, Kulkarni S, Tan LT, Cross NCP. Two patients with novel BCR/ABL fusion transcripts (e8/a2 and e13a2) resulting from translocation breakpoints within BCR exons. British Journal of Haematology: 105: 434-436, 1999 Abstract
| | Reiter A, Sohal J, Kulkarni S, Chase A, Macdonald DHC, Aguiar RCT, Goncalves C, Hernandez JM, Jennings BA, Goldman JM , Cross NCP. Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome. Blood: 92(5): 1735-1742, 1998 Abstract
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