Pragna I. Patel

Title(s)Professor of Biochemistry & Molecular Medicine
SchoolKeck School of Medicine of Usc
Address2250 Alcazar St.
Health Sciences Campus
Los Angeles CA 90033
Phone+1 323 442 2751
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    Other Positions
    Title(s)Director of Instructional Practices and Curriculum

    Title(s)DEI Champion for Health and Biomedical Science Education

    Collapse Overview 
    Collapse Overview
    Dr. Pragna Patel is Professor in the Department of Biochemistry and Molecular Medicine at the Keck School of Medicine of USC. Before joining USC, Dr. Patel was a member of the faculty at Baylor College of Medicine in Houston from 1987 through 2003. Her laboratory played a major role in the discovery of novel mechanisms underlying several inherited diseases including Charcot-Marie-Tooth disease type 1A, Friedreich ataxia and congenital generalized hypertrichosis. DNA-based tests for some of these diseases have enabled easier diagnosis. Her laboratory has also contributed to an understanding of how the genes are normally regulated using cell culture and animal models, and worked on developing therapies for these diseases. Her lab has also been interested in the genetics of common diseases in Asian Indians and examined the genetic structure of Asian Indian populations speaking 15 different languages as well as studies on the impact of restricted marital practices within an endogamic Indian population.

    Collapse Research 
    Collapse Research Activities and Funding
    Identification of therapeutic compounds for Charcot-Marie-Tooth disease type 1E/1
    NIH R21NS087194Apr 1, 2014 - Mar 31, 2017
    Role: Principal Investigator
    Identification of a Gene Underlying Dystonia
    NIH R01NS044413Aug 1, 2002 - Jul 31, 2006
    Role: Principal Investigator
    NIH R01DE014102Apr 1, 2002 - Mar 31, 2009
    Role: Principal Investigator
    NIH R03DE013632Apr 1, 2000 - Mar 31, 2002
    Role: Principal Investigator
    NIH R01AR041996Sep 10, 1993 - May 31, 1998
    Role: Principal Investigator
    NIH R01HD028458Apr 1, 1992 - Mar 31, 1997
    Role: Principal Investigator
    NIH R29HD022974Aug 1, 1987 - Jul 31, 1991
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2020 04 15; 29(6):1054. Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. PMID: 32016392; PMCID: PMC8325106.
      View in: PubMed   Mentions:    Fields:    
    2. Immunologic predictors of coronary artery calcium progression in a contemporary HIV cohort. AIDS. 2014 Mar 27; 28(6):831-40. Baker JV, Hullsiek KH, Singh A, Wilson E, Henry K, Lichtenstein K, Onen N, Kojic E, Patel P, Brooks JT, Hodis HN, Budoff M, Sereti I, CDC SUN Study Investigators. PMID: 24370480; PMCID: PMC4199584.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansCells
    3. A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia. 2014 Jan; 62(1):39-51. Pemberton TJ, Choi S, Mayer JA, Li FY, Gokey N, Svaren J, Safra N, Bannasch DL, Sullivan K, Breuhaus B, Patel PI, Duncan ID. PMID: 24272703; PMCID: PMC4026025.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    4. Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? JAMA Neurol. 2013 Aug; 70(8):969-71. Patel PI, Pleasure D. PMID: 23797977.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    5. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2013 Mar 01; 22(5):1026-38. Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. PMID: 23221805; PMCID: PMC3561915.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimals
    6. The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis. PLoS Genet. 2012; 8(7):e1002748. Ng CS, Wu P, Foley J, Foley A, McDonald ML, Juan WT, Huang CJ, Lai YT, Lo WS, Chen CF, Leal SM, Zhang H, Widelitz RB, Patel PI, Li WH, Chuong CM. PMID: 22829773; PMCID: PMC3400578.
      View in: PubMed   Mentions: 46     Fields:    Translation:AnimalsCells
    7. Impact of restricted marital practices on genetic variation in an endogamous Gujarati group. Am J Phys Anthropol. 2012 Sep; 149(1):92-103. Pemberton TJ, Li FY, Hanson EK, Mehta NU, Choi S, Ballantyne J, Belmont JW, Rosenberg NA, Tyler-Smith C, Patel PI. PMID: 22729696; PMCID: PMC3436606.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    8. X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. Am J Hum Genet. 2011 Jun 10; 88(6):819-826. Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L, Patel PI, Jing T, Zhang X. PMID: 21636067; PMCID: PMC3113246.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    9. Prevalence of common disease-associated variants in Asian Indians. BMC Genet. 2008 Feb 04; 9:13. Pemberton TJ, Mehta NU, Witonsky D, Di Rienzo A, Allayee H, Conti DV, Patel PI. PMID: 18248681; PMCID: PMC2267478.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    10. Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis. Dev Dyn. 2007 Aug; 236(8):2245-57. Pemberton TJ, Li FY, Oka S, Mendoza-Fandino GA, Hsu YH, Bringas P, Chai Y, Snead ML, Mehrian-Shai R, Patel PI. PMID: 17626284; PMCID: PMC4457363.
      View in: PubMed   Mentions: 15     Fields:    Translation:Animals
    11. Inherited dental anomalies: a review and prospects for the future role of clinicians. J Calif Dent Assoc. 2007 May; 35(5):324-6, 328-33. Pemberton TJ, Mendoza G, Gee J, Patel PI. PMID: 17822158.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    12. A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet A. 2007 Feb 15; 143(4):390-4. Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI. PMID: 17256800.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    13. A simple method for DNA isolation from clotted blood extricated rapidly from serum separator tubes. Clin Chem. 2007 Mar; 53(3):522-4. Se Fum Wong S, Kuei JJ, Prasad N, Agonafer E, Mendoza GA, Pemberton TJ, Patel PI. PMID: 17234731.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    14. Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet. 2006 Dec; 2(12):e215. Rosenberg NA, Mahajan S, Gonzalez-Quevedo C, Blum MG, Nino-Rosales L, Ninis V, Das P, Hegde M, Molinari L, Zapata G, Weber JL, Belmont JW, Patel PI. PMID: 17194221; PMCID: PMC1713257.
      View in: PubMed   Mentions: 50     Fields:    Translation:HumansCells
    15. A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Hum Genet. 2007 Jan; 120(5):653-62. Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, Mehrian-Shai R, Gonzalez-Quevedo C, Ninis V, Hartiala J, Allayee H, Snead ML, Leal SM, Line SR, Patel PI. PMID: 17024372; PMCID: PMC6174526.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    16. Gene discovery for dental anomalies: a primer for the dental professional. J Am Dent Assoc. 2006 Jun; 137(6):743-52. Pemberton TJ, Gee J, Patel PI. PMID: 16803803.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. Nonconventional genetic risk factors for cardiovascular disease. Curr Atheroscler Rep. 2006 May; 8(3):184-92. Tymchuk CN, Hartiala J, Patel PI, Mehrabian M, Allayee H. PMID: 16640955.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    18. Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine. Hum Genet. 2005 Dec; 118(3-4):382-92. Yang N, Li H, Criswell LA, Gregersen PK, Alarcon-Riquelme ME, Kittles R, Shigeta R, Silva G, Patel PI, Belmont JW, Seldin MF. PMID: 16193326.
      View in: PubMed   Mentions: 72     Fields:    Translation:Humans
    19. Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research. J Dent Hyg. 2005; 79(3):10. Nino-Rosales ML, Patel PI. PMID: 16197775.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    20. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet. 2003 Dec; 73(6):1302-15. Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. PMID: 14639526; PMCID: PMC1180396.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansCells
    21. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet A. 2003 Apr 01; 118A(1):35-42. Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI. PMID: 12605438; PMCID: PMC6156786.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCells
    22. Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies. J Neurosci Res. 2002 Aug 15; 69(4):497-508. Hai M, Muja N, DeVries GH, Quarles RH, Patel PI. PMID: 12210843.
      View in: PubMed   Mentions: 50     Fields:    Translation:AnimalsCells
    23. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet. 2002 Apr; 110(4):371-6. Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI. PMID: 11941488.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansCells
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