Hope Northrup, M.D.
1983, Medical University of South Carolina
UT-Houston Medical School
Pediatrics
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Hope Northrup, M.D. 1983, Medical University of South Carolina UT-Houston Medical School |
Research Interests: Medical genetics; molecular genetics of human disease; tuberous sclerosis; spina bifida
Research in my laboratory focuses on two disorders: tuberous sclerosis complex (TSC) and spina bifida cystica. TSC is inherited in an autosomal dominant fashion with two known genes on chromosome 9q34.3 (TSC1) and on chromosome 16p13.3 (TSC2) for the TSC phenotype. Current work underway includes mutational analysis and functional studies of both genes. The spina bifida project is using a candidate gene approach to search for genetic associations.
A tutorial in my laboratory will expose the student to common
molecular genetic techniques including subcloning, DNA sequencing, Southern
blot analysis, single strand conformational polymorphic analysis, cell free
transcription-translation, protein-protein interaction techniques, Western blotting
and immunoprecipitation.
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Fletcher JM, Copeland K, Frederick JA, Blaser SE, Kramer LA, Northrup H, Hannay J, Brandt ME, Francis DJ, Villarreal G, Drake JM, Laurent JP, Townsend I, Inwood S, Boudousquie A, Dennis M (2005) Spinal lesion level in spina bifida meningomyelocele: a source of neural and cognitive heterogeneity. J Neurosurg 102:268-279.
Au K-S, Williams AT, Gambello MJ, Northrup H (2004) Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. J Child Neurol 19(9):699-709.
Grinberg I, Northrup H, Ardinger H, Dobyns WB, Millen KJ (2004) Heterozygous deletion of the linked ZIC1 and ZIC4 genes and Dandy-Walker malformation. Nat Genet 36(10):1053-1055.
Volcik KA, Blanton SH, Kruzel MC, Townsend IT, Tyerman GH, Mier RJ, Northrup H (2002) Testing for genetic associations to the PAX gene family in a spina bifida population. Amer J Med Genet 110:195-202.
Volcik KA, Blanton SH, Kruzel MC, Townsend IT, Tyerman GH, Mier RJ, Northrup H (2002) Testing for genetic associations in a spina bifida population: analysis of the HOX gene family and human candidate gene regions implicated in mouse models of neural tube defects. Amer J Med Genet 110:203-207.
Arbiser JL, Yeung R, Weiss SW, Arbiser ZK, Amin MB, Cohen C, Frank D, Mahajan S, Herron GS, Yang J, Onda H, Zhang HB, Bai X, Uhlmann E, Loehr A, Northrup H, Au P, Davis I, Fisher DE, Gutmann DH (2001) The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma: use of telomerase to obtain stable populations of cells from benign neoplasms. Am J Pathol 159(2):483-491.
Volcik KA, Blanton SH, Northrup H (2001) Examinations of MTHFR C677T and A1298 mutations and in utero viability. Am J Hum Genet 69(5):1150-1152.
Khare L, Strizheva GD, Bailey JN, Au K-S, Northrup H, Smith M, Smalley SL, Henske EP (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two extended families with tuberous sclerosis complex. J Med Genet 38(5):357-359.
Northrup H , Volcik KA (2000) Spina bifida and other neural tube defects. Current Prob in Pediatrics 30(10):313-340.
Volcik KA, Blanton SH, Tyerman GH, Jong ST, Rott EJ, Page TZ, Romaine NK, Northrup H (2000) Methylenetetrahydrofolate reductase and spina bifida: an evaluation of level of defect and maternal genotypic risks in Hispanics. American Journal of Medical Genetics 95:000-000, In Press.
Astrinidis A, Khare L, Carsillo T, Smoralek T, Menon A, Au K-S, Northrup H, Henske EP (2000) Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. Journal of Medical Genetics 37(1):55-57.
Au K-S, Hebert AA, Roach ES, Northrup H (1999) Complete inactivation of the TSC2 gene leads to formation of hamartomas. American Journal of Human Genetics 65:1790-1795.
Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H (1999) Germ-line mosaicism in tuberous sclerosis: how common? American Journal of Human Genetics 64:986-992.
Northrup H, Au K-S (1999) Tuberous sclerosis complex. GeneClinics: Medical Genetics Knowledge Base.
Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H (1998) Germ-line mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients. American Journal of Human Genetics 62:286-294.
Program Affiliations:
Program in Genetic Counseling
Program in Human and Molecular Genetics