Pragna I. Patel

Pragna I. Patel

Professor of Biochemistry & Molecular Medicine
CSC 266 2250 Alcazar Street Health Sciences Campus Los Angeles

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice Hum Mol Genet. 2020 Apr 15; 29(6):1054. . View in PubMed

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. . View in PubMed

Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? JAMA Neurol. 2013 Aug; 70(8):969-71.. View in PubMed

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. . View in PubMed

Impact of restricted marital practices on genetic variation in an endogamous Gujarati group Am J Phys Anthropol. 2012 Sep; 149(1):92-103. . View in PubMed

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. . View in PubMed

Prevalence of common disease-associated variants in Asian Indians BMC Genet. 2008 Feb 04; 9:13. . View in PubMed

Inherited dental anomalies: a review and prospects for the future role of clinicians J Calif Dent Assoc. 2007 May; 35(5):324-6328-33. . View in PubMed

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia . 2007 Feb 15; 143(4):390-4. . View in PubMed

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q243. Hum Genet. 2007 Jan; 120(5):653-62. . View in PubMed

Low levels of genetic divergence across geographically and linguistically diverse populations from India PLoS Genet. 2006 Dec; 2(12):e215. . View in PubMed

Gene discovery for dental anomalies: a primer for the dental professional J Am Dent Assoc. 2006 Jun; 137(6):743-52. . View in PubMed

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. . View in PubMed

Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research J Dent Hyg. 2005; 79(3):10. . View in PubMed

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p112. Am J Hum Genet. 2003 Dec; 73(6):1302-15. . View in PubMed

Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia . 2003 Apr 01; 118A(1):35-42. . View in PubMed

Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies J Neurosci Res. 2002 Aug 15; 69(4):497-508. . View in PubMed

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia Hum Genet. 2002 Apr; 110(4):371-6. . View in PubMed

Genomic organisation of the approximately 15 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur J Hum Genet. 2001 Dec; 9(12):892-902. . View in PubMed

Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene J Neurosci Res. 2001 Sep 15; 65(6):508-19. . View in PubMed

Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene Antisense Nucleic Acid Drug Dev. 2001 Aug; 11(4):233-46. . View in PubMed

Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency Am J Hum Genet. 2001 Jul; 69(1):15-24. . View in PubMed

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae Hum Mol Genet. 2000 Oct 12; 9(17):2523-30. . View in PubMed

Atypical friedreich ataxia with a very late onset and an unusual limited GAA repeat Arch Neurol 2000 Sep; 57(9):1380-2. . View in PubMed

Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia J Dent Res. 2000 Jul; 79(7):1469-75. . View in PubMed

Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells Brain Res. 2000 May 19; 865(1):12-6. . View in PubMed

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions Arch Neurol. 2000 Feb; 57(2):246-51. . View in PubMed

Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p112 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval. Cytogenet Cell Genet. 2000; 88(3-4):283-5. . View in PubMed

Mutation of PAX9 is associated with oligodontia Nat Genet. 2000 Jan; 24(1):18-9. . View in PubMed

Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome Am J Med Genet. 1999 Dec 03; 87(4):342-8. . View in PubMed

Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence Hum Mol Genet. 1999 Dec; 8(13):2425-36. . View in PubMed

Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q111-->q11. 2 with somatic cell hybrids and in situ hybridization. Cytogenet Cell Genet. 1999; 84(1-2):48-9. . View in PubMed

Human 12(R)-lipoxygenase and the mouse orthologMolecular cloning, expression, and gene chromosomal assignment. J Biol Chem. 1998 Dec 11; 273(50):33540-7. . View in PubMed

Evidence that a gene for essential tremor maps to chromosome 2p in four families Mov Disord. 1998 Nov; 13(6):972-7. . View in PubMed

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy Neurology. 1998 Aug; 51(2):493-8. . View in PubMed

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP J Med Genet. 1998 Jul; 35(7):590-3. . View in PubMed

Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p112. Am J Med Genet. 1998 Apr 28; 77(1):23-7. . View in PubMed

A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism Muscle Nerve. 1998 Mar; 21(3):390-3. . View in PubMed

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity Am J Med Genet. 1998 Jan 06; 75(1):104-8. . View in PubMed

Assignment of big MAP kinase (PRKM7) to human chromosome 17 band p112 with somatic cell hybrids. Cytogenet Cell Genet. 1998; 83(3-4):258-9. . View in PubMed

Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13 Cytogenet Cell Genet. 1998; 81(1):79-82. . View in PubMed

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure Am J Hum Genet. 1998 Jan; 62(1):111-21. . View in PubMed

Recombination hot spots and human disease Genome Res. 1997 Aug; 7(8):773-86. . View in PubMed

Molecular analysis of deletion (17)(p112p11. 2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions. Am J Hum Genet. 1997 May; 60(5):1184-93. . View in PubMed

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion Am J Hum Genet. 1997 May; 60(5):1251-6. . View in PubMed

Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype Proc Natl Acad Sci U S A. 1997 Apr 29; 94(9):4538-42. . View in PubMed

Frataxin fracas Nat Genet. 1997 Apr; 15(4):337-8. . View in PubMed

Familial essential tremor in 4 kindredsProspects for genetic mapping. Arch Neurol. 1997 Mar; 54(3):289-94. . View in PubMed

Definition of the critical interval for Smith-Magenis syndrome Cytogenet Cell Genet. 1997; 79(3-4):276-81. . View in PubMed

Mosaicism for del(17)(p112p11. 2) underlying the Smith-Magenis syndrome. Am J Med Genet. 1996 Dec 11; 66(2):193-6. . View in PubMed

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients Hum Genet. 1996 Dec; 98(6):710-8. . View in PubMed

Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples Am J Med Genet. 1996 Nov 22; 67(6):505-14. . View in PubMed

Quest for the elusive genetic basis of Tourette syndrome Am J Hum Genet. 1996 Nov; 59(5):980-2. . View in PubMed

Regulation of the hypoxanthine phosphoribosyltransferase gene: in vitro and in vivo approaches . 1996 Jun; 212(2):116-27. . View in PubMed

Molecular analyses of 17p112 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007. . View in PubMed

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion Science. 1996 Mar 08; 271(5254):1423-7. . View in PubMed

Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene Mol Cell Biol. 1995 Dec; 15(12):6561-71. . View in PubMed

Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome Am J Hum Genet. 1995 Dec; 57(6):1342-50. . View in PubMed

Apparent mosaicism for del(17)(p112) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am J Med Genet. 1995 Nov 20; 59(3):406-7. . View in PubMed

Mapping of genes predisposing to idiopathic generalized epilepsy Hum Mol Genet. 1995 Jul; 4(7):1201-7. . View in PubMed

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q271. Nat Genet. 1995 Jun; 10(2):202-7. . View in PubMed

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients Hum Mol Genet. 1995 Apr; 4(4):589-97. . View in PubMed

Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters J Biol Chem. 1994 Oct 14; 269(41):25795-808. . View in PubMed

5'-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice J Neurosci Res. 1994 Jun 15; 38(3):259-67. . View in PubMed

Detection of tandem duplications and implications for linkage analysis Am J Hum Genet. 1994 Jun; 54(6):1110-21. . View in PubMed

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease Trends Genet. 1994 Apr; 10(4):128-33. . View in PubMed

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 Hum Mol Genet. 1994 Feb; 3(2):223-8. . View in PubMed

Genetic basis of inherited peripheral neuropathies Hum Mutat. 1994; 3(2):95-102. . View in PubMed

Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A Nat Genet. 1993 Oct; 5(2):189-94. . View in PubMed

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication Am J Hum Genet. 1993 Oct; 53(4):853-63. . View in PubMed

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p112p12 deletion. Am J Med Genet. 1993 Sep 15; 47(4):504-11. . View in PubMed

Charcot-Marie-Tooth disease type 1AAssociation with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993 Jul 08; 329(2):96-101. . View in PubMed

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene Curr Opin Genet Dev. 1993 Jun; 3(3):438-44. . View in PubMed

Identification of disease genes and somatic gene therapy: an overview and prospects for the aged J Gerontol. 1993 May; 48(3):B80-5. . View in PubMed

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1 Am J Med Genet. 1993 Jan 01; 45(1):92-6. . View in PubMed

Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia Schizophr Res. 1993 Jan; 8(3):211-21. . View in PubMed

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A Prog Clin Biol Res. 1993; 384:187-205. . View in PubMed

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 15 Mb monomer unit. Nat Genet. 1992 Dec; 2(4):292-300. . View in PubMed

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p Genomics. 1992 Jul; 13(3):551-9. . View in PubMed

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A Nat Genet. 1992 Jun; 1(3):159-65. . View in PubMed

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A Nat Genet. 1992 Apr; 1(1):29-33. . View in PubMed

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy Am J Hum Genet. 1992 Apr; 50(4):690-9. . View in PubMed

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p112). Am J Hum Genet. 1991 Dec; 49(6):1207-18. . View in PubMed

Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element Mol Cell Biol. 1991 Aug; 11(8):4157-64. . View in PubMed

DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell. 1991 Jul 26; 66(2):219-32. . View in PubMed

Molecular characterization of a patient with del(1)(q23-q25) Hum Genet. 1991 Jul; 87(3):269-77. . View in PubMed

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction Genomics. 1991 Jan; 9(1):31-6. . View in PubMed

Two MspI RFLPs at the D17S258 locus Nucleic Acids Res. 1990 Dec 11; 18(23):7196. . View in PubMed

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids Am J Hum Genet. 1990 Dec; 47(6):926-34. . View in PubMed

Three polymorphisms at the D17S29 locus Nucleic Acids Res. 1990 Aug 25; 18(16):4958. . View in PubMed

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17 Am J Hum Genet. 1990 Apr; 46(4):801-9. . View in PubMed

Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251] Nucleic Acids Res. 1990 Feb 25; 18(4):1087. . View in PubMed

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement Somat Cell Mol Genet. 1988 May; 14(3):293-303. . View in PubMed

Fine structure of the human hypoxanthine phosphoribosyltransferase gene Mol Cell Biol. 1986 Feb; 6(2):393-403. . View in PubMed

Expression of human and mouse HPRT minigenes Adv Exp Med Biol. 1986; 195 Pt A:231-6. . View in PubMed

Mutational diversity at the human HPRT locus Prog Clin Biol Res. 1986; 209A:457-63. . View in PubMed

Organization of the HPRT gene and related sequences in the human genome Somat Cell Mol Genet. 1984 Sep; 10(5):483-93. . View in PubMed

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients Nature. 1984 Aug 2-8; 310(5976):412-4. . View in PubMed

Subcellular location of a soluble factor that stimulates DNA replication in permeable animal cells Exp Cell Res. 1983 Jan; 143(1):227-36. . View in PubMed

Dr. Pragna Patel is jointly appointed as Professor in the Department of Biochemistry and Molecular Biology at the Keck School of Medicine of USC and in the Division of Biomedical Sciences at the Herman Ostrow School of Dentistry of USC. Her laboratory is located within the Institute for Genetic Medicine. Before joining USC, Dr. Patel was a member of the faculty at Baylor College of Medicine in Houston from 1987 through 2003. For over two decades, she has pursued gene discovery for a number of inherited disorders. Her laboratory played a major role in the discovery of unprecedented mechanisms for Charcot-Marie-Tooth disease type 1A (CMT1A), which is the most common inherited neuropathy, and for Friedreich ataxia, a devastating neurological disorder that afflicts children in the first decade of life. These studies led to the development of DNA-based tests for these diseases, thereby enabling easier diagnosis of these conditions. These discoveries as well as her many contributions to the genetics of other human disorders have brought her laboratory international acclaim. Besides contributing to the discovery of disease genes, her laboratory has also contributed to an understanding of how the genes are normally regulated using cell culture and animal models, and is interested in developing therapies for these diseases. Her lab is currently conducting a drug screen for CMT1A. Her lab has also been interested in the genetics of common diseases in Asian Indians. Laying the foundation for the latter has been the goal of her studies on 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.
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