JAMES LUPSKI

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. ncbi Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
    Lina Shao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 146:2242-51. 2008
  2. ncbi Genomic rearrangements and sporadic disease
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B and Texas Children s Hospital Houston, Texas 77030, USA
    Nat Genet 39:S43-7. 2007
  3. ncbi Mechanisms for human genomic rearrangements
    Wenli Gu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Pathogenetics 1:4. 2008
  4. ncbi 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, 77030, USA
    Am J Hum Genet 72:246-52. 2003
  5. ncbi Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, and at the Texas Children s Hospital, Houston, Texas, United States of America
    PLoS Genet 1:e49. 2005
  6. ncbi Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
    J R Lupski
    Department of Molecular and Human Genetics, Texas Children s Hospital, Baylor College of Medicine, Houston 77030, USA
    Trends Genet 14:417-22. 1998
  7. ncbi ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:2769-78. 2005
  8. ncbi An evolution revolution provides further revelation
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Bioessays 29:1182-4. 2007
  9. ncbi Periaxin mutations cause recessive Dejerine-Sottas neuropathy
    C F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 68:325-33. 2001
  10. ncbi Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
    N Katsanis
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 26:67-70. 2000

Research Grants

  1. CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
    JAMES LUPSKI; Fiscal Year: 2005
  2. ABCR, Macular Dystrophies and Degeneration
    JAMES LUPSKI; Fiscal Year: 2005
  3. Molecular basis of the craniofacial anomalies in SMS
    JAMES LUPSKI; Fiscal Year: 2006
  4. Chromosome Rearrangements and Mental Retardation
    JAMES LUPSKI; Fiscal Year: 2005
  5. Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.
    JAMES LUPSKI; Fiscal Year: 2009
  6. CMT PERIPHERAL NEUROPATHY II MOLECULAR ANALYSIS
    JAMES LUPSKI; Fiscal Year: 1993
  7. CMT PERIPHERAL NEUROPATHY--I LINKAGE ANALYSIS
    JAMES LUPSKI; Fiscal Year: 1992
  8. CMT PERIPHERAL NEUROPATHY--III MOLECULAR MECHANISMS
    JAMES LUPSKI; Fiscal Year: 2001
  9. Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.
    James R Lupski; Fiscal Year: 2010

Detail Information

Publications125 found, 100 shown here

  1. ncbi Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
    Lina Shao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 146:2242-51. 2008
    ..Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances...
  2. ncbi Genomic rearrangements and sporadic disease
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B and Texas Children s Hospital Houston, Texas 77030, USA
    Nat Genet 39:S43-7. 2007
    ..Widespread implementation of high-resolution genome analyses to detect de novo copy-number variation may identify the cause of traits previously intractable to conventional genetic analyses...
  3. ncbi Mechanisms for human genomic rearrangements
    Wenli Gu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Pathogenetics 1:4. 2008
    ..We provide a review of the current understanding of these three models...
  4. ncbi 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, 77030, USA
    Am J Hum Genet 72:246-52. 2003
  5. ncbi Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, and at the Texas Children s Hospital, Houston, Texas, United States of America
    PLoS Genet 1:e49. 2005
    ....
  6. ncbi Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
    J R Lupski
    Department of Molecular and Human Genetics, Texas Children s Hospital, Baylor College of Medicine, Houston 77030, USA
    Trends Genet 14:417-22. 1998
    ..This genome architecture provides substrates for homologous recombination between nonsyntenic regions of chromosomes. Such events can result in DNA rearrangements that cause disease...
  7. ncbi ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:2769-78. 2005
    ..Our data suggest that a class of ABCA4 mutants may be an important determinant of the AO of disease...
  8. ncbi An evolution revolution provides further revelation
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Bioessays 29:1182-4. 2007
    ..Intriguingly, human lineage-specific gene amplification can be correlated to the emergence of human-specific traits such as cognition and endurance running...
  9. ncbi Periaxin mutations cause recessive Dejerine-Sottas neuropathy
    C F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 68:325-33. 2001
    ..13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997)...
  10. ncbi Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
    N Katsanis
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 26:67-70. 2000
    ..Our data suggest that a complete loss of function of the MKKS product, and thus an inability to fold a range of target proteins, is responsible for the clinical manifestations of BBS...
  11. ncbi Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees
    N Katsanis
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 65:1672-9. 1999
    ..8 Mb between D11S1883 and D11S4944. The identification of multiple recombinants at the same position forms the basis for physical mapping efforts, coupled with mutation analysis of candidate genes, to identify the gene for BBS1...
  12. ncbi Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179
    Q Zhao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 49:394-400. 1998
    ..Although contained within the SMS common deletion interval, FISH experiments show that ZNF179 is not deleted in two SMS patients with smaller deletions...
  13. ncbi Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era
    R A Britton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 67:78-82. 2000
    ..ERAL1 may be an attractive candidate for a tumor suppressor gene since ERAL1 is located in a chromosomal region where loss of heterozygosity is often associated with various types of cancer...
  14. ncbi Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
    B A Bejjani
    Department of Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 62:325-33. 1998
    ..Furthermore, the small number of PCG mutations identified in this Saudi population makes both neonatal and population screening attractive public health measures...
  15. ncbi Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
    L E Warner
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Neuron 17:451-60. 1996
    ..Furthermore, we hypothesize the differences in clinical severity seen with mutations in MPZ are related to the type of mutation and its subsequent effect on protein function (i.e., loss of function versus dominant negative)...
  16. ncbi Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
    N Katsanis
    Department of Molecular and Human Genetics, The Texas Children s Hospital, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Science 293:2256-9. 2001
    ..This triallelic model of disease transmission may be important in the study of both Mendelian and multifactorial disorders...
  17. ncbi Exploring the molecular basis of Bardet-Biedl syndrome
    N Katsanis
    Department of Molecular Genetics, The Texas Children s Hospital, Baylor College of Medicine, Houston, Texas, USA
    Hum Mol Genet 10:2293-9. 2001
    ..Here we review the key elements of the phenotype and discuss the significance of the discovery of the first three BBS genes on the effort to identify the cellular causes of this syndrome...
  18. ncbi Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome
    D W Stockton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Arch Neurol 58:1635-7. 2001
    ..Carpal tunnel syndrome is a debilitating neuropathy affecting millions of individuals. Although there are published reports of familial associations of carpal tunnel syndrome, the molecular mechanisms are unknown...
  19. ncbi Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1
    N Katsanis
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030, USA
    Clin Genet 59:424-9. 2001
    ..More importantly, younger individuals diagnosed with the milder disorder FA thought to be stationary may evolve to a more devastating and progressive phenotype...
  20. ncbi Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms
    L E Warner
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Med 50:263-75. 1999
    ....
  21. ncbi Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
    B A Bejjani
    Departments of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 9:367-74. 2000
    ..Analysis of these 22 kindreds suggests the presence of a dominant modifier locus that is not linked genetically to CYP1B1. Linkage and Southern analyses excluded three candidate modifier loci...
  22. ncbi Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci
    P L Beales
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 68:606-16. 2001
    ..Our data also suggest that BBS6 is a minor contributor to the syndrome and that some BBS6 alleles may act in conjunction with mutations at other BBS loci to cause or modify the BBS phenotype...
  23. ncbi Molecular mechanisms for constitutional chromosomal rearrangements in humans
    L G Shaffer
    Department of Molecular and Human Genetics, Department of Pediatrics, Baylor College of Medicine, and Texas Children s Hospital, Houston, Texas 77030, USA
    Annu Rev Genet 34:297-329. 2000
    ....
  24. ncbi Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13
    N Katsanis
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Genet 106:66-72. 2000
    ..Given that mutations in EFEMP1 have been recently described in patients with Doyne honeycomb retinal dystrophy, EFEMP2 becomes a good candidate for such disorders...
  25. ncbi Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
    L E Warner
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 18:382-4. 1998
    ....
  26. ncbi Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
    S Ben-Shachar
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Med Genet 46:382-8. 2009
    ..Microdeletions within chromosome 15q13.3 are associated both with a recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and with schizophrenia...
  27. ncbi Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
    S Ben-Shachar
    Department of Molecular and Human Genetic, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Genet 75:394-400. 2009
    ..Indeed, NMD may explain distinct phenotypes and different inheritance patterns conveyed by allelic truncating mutations enabling better genotype-phenotype correlations in several other disorders...
  28. ncbi Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease
    P I Patel
    Department of Neurology, Baylor College of Medicine, Houston, TX 77030
    Trends Genet 10:128-33. 1994
    ....
  29. ncbi 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits
    S R Lalani
    Department of Molecular and Human Genetics, One Baylor Plaza, BCM225, MARB, R713, Houston, Texas 77030, USA
    J Med Genet 46:168-75. 2009
    ....
  30. ncbi Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease
    B B Roa
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 7:36-45. 1996
    ..These observations provide further confirmation of the role of MPZ in CMT1B and suggest that MPZ coding region mutations may account for a limited percentage of disease-causing mutations in nonduplication CMT1 patients...
  31. ncbi Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12
    T Murakami
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 39:99-103. 1997
    ..A gene that is homologous to human peroxisome proliferator activated receptor alpha (hPPARA) was identified near the proximal CMT1A-REP...
  32. ncbi Low factor XII level in an individual with Sotos syndrome
    Joseph J Shen
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Pediatr Blood Cancer 44:187-9. 2005
    ..This case report describes an individual with Sotos syndrome and factor XII deficiency, providing a potential link between these two genes and, consequently, expanding the clinical phenotype of Sotos syndrome...
  33. ncbi Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1
    B A Bejjani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 79:392-5. 1998
    ....
  34. ncbi Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene
    T Murakami
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houstan, Texas 77030, USA
    Genomics 42:161-4. 1997
    ..This gene is expressed in multiple tissues with highest expression observed in the heart, skeletal muscle, and testis...
  35. ncbi The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
    P I Patel
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 1:159-65. 1992
    ..Thus, we suggest that a gene dosage effect involving PMP-22 is at least partially responsible for the demyelinating neuropathy seen in CMT1A...
  36. ncbi Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
    S C Sreenath Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    J Med Genet 46:825-33. 2009
    ..The phenotypic consequences of YWHAE deletion without deletion of PAFAH1B1 have not been studied systematically...
  37. ncbi The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
    L T Reiter
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 6:1595-603. 1997
    ..We propose that the distal CMT1A-REP represents the progenitor copy of COX10 exon VI which was duplicated with surrounding intronic sequences during mammalian genome evolution and that the HNPP deletion results in a COX10 null allele...
  38. ncbi DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    J R Lupski
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Cell 66:219-32. 1991
    ..We have demonstrated that failure to recognize the molecular duplication can lead to misinterpretation of marker genotypes for affected individuals, identification of false recombinants, and incorrect localization of the disease locus...
  39. ncbi Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits
    P Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA
    Cold Spring Harb Symp Quant Biol 68:445-54. 2003
  40. ncbi Molecular genetics of Charcot-Marie-Tooth neuropathy
    B B Roa
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Adv Hum Genet 22:117-52. 1994
  41. ncbi Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion
    L Potocki
    Department of Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 24:84-7. 2000
    ..2 region, but may also be common to other regions of the genome where interstitial microdeletion syndromes have been defined...
  42. ncbi Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
    C J Shaw
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    J Med Genet 41:113-9. 2004
    ..CONCLUSIONS: Array-CGH is an accurate and sensitive method for detecting genomic dosage differences and identifying rearrangement breakpoints, even in LCR-rich regions of the genome...
  43. ncbi Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2
    L Potocki
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA
    Genomics 57:180-2. 1999
  44. ncbi Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene
    B B Roa
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030 3498
    N Engl J Med 329:96-101. 1993
    ..An increased dosage of a gene within the duplicated segment appears to cause the disease. The PMP22 gene, which encodes a myelin protein, has been mapped within the duplication and proposed as a candidate gene for CMT type 1A...
  45. ncbi Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A
    B B Roa
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 5:189-94. 1993
    ....
  46. ncbi Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease
    K Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Prenat Diagn 21:1133-6. 2001
    ..Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD...
  47. ncbi Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype
    P Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030-3498, USA
    Clin Genet 60:336-44. 2001
    ..We compare the clinical characteristics of our patient with those previously reported to have a duplication involving the proximal short arm region of chromosome 17 to further delineate the phenotype of trisomy 17pl0-p12...
  48. ncbi Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
    N F Shroyer
    Program in Cell and Molecular Biology, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 10:2671-8. 2001
    ..Of the 21 missense ABCR mutations reported in patients with AMD, 16 (76%) show abnormalities in protein expression, ATP-binding or ATPase activity. We infer that carrier relatives of STGD patients are predisposed to develop AMD...
  49. ncbi Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa
    N F Shroyer
    Program in Cell and Molecular Biology, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Invest Ophthalmol Vis Sci 42:2757-61. 2001
    ..These data are congruent with a model in which RP is associated with homozygous null mutations and with the notion that severity of retinal disease is inversely related to residual ABCR activity...
  50. ncbi Genomic and clinical characteristics of microduplications in chromosome 17
    Oleg A Shchelochkov
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77050, USA
    Am J Med Genet A 152:1101-10. 2010
    ..We provide specific examples of chromosome 17 microduplications with the emphasis on their phenotype, specific clinical features aiding in their diagnosis, and counseling...
  51. ncbi Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy
    H Takashima
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 3:335-42. 2001
    ..To determine the efficacy of denaturing high-performance liquid chromatography (DHPLC) for mutation detection in genetically heterogeneous diseases using Charcot-Marie-Tooth neuropathy as a model...
  52. ncbi Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case
    L E Warner
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 10:21-4. 1997
    ..Our data raise the question as to the potential mechanism(s) involved in the formation of multiple point mutations at a given locus...
  53. ncbi Identification of novel genes expressed during metanephric induction through single-cell library screening
    J M Abidari
    Scott Department of Urology, Department of Molecular and Human Genetics, and Department of Pediatrics, Baylor College of Medicine, and Texas Children s Hospital, Houston, Texas 77030, USA
    Kidney Int 57:2221-8. 2000
    ..These findings suggest that Bmp7 controls the expression of genes important for nephrogenesis, but the identity of these genes has remained largely undetermined...
  54. ncbi Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    K S Chen
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 17:154-63. 1997
    ..2. Our results suggest that homologous recombination of a flanking repeat gene cluster is a mechanism for this common microdeletion syndrome...
  55. ncbi Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
    A N Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Genet 108:346-55. 2001
    ..In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22)...
  56. ncbi The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes
    K Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 11:1018-33. 2001
    ..Analyses of the genomic region adjacent to proximal CMT1A-REP indicated an evolutionary mechanism for the formation of proximal CMT1A-REP and the creation of novel genes by DNA rearrangement during primate speciation...
  57. ncbi Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A
    J R Lupski
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030
    Brain Pathol 2:337-49. 1992
    ..PMP-22 is thus a candidate gene for CMT1A. This paper describes the molecular genetics of CMT1A and sural nerve pathology in CMT1A patients with the CMT1A duplication...
  58. ncbi Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    L Pentao
    Institute for Molecular Genetics, College of Medicine, Houston, Texas 77030
    Nat Genet 2:292-300. 1992
    ..We propose that the de novo CMT1A duplication arises from unequal crossing over due to misalignment at these CMT1A-REP repeat sequences during meiosis...
  59. ncbi Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
    R A Lewis
    Departments of Ophthalmology, Baylor College of Medicine, 609 E, Houston, TX 77030, USA
    Am J Hum Genet 64:422-34. 1999
    ..These findings support the hypothesis that compound heterozygous ABCR mutations are responsible for STGD1 and that some heterozygous ABCR mutations may enhance susceptibility to AMD...
  60. ncbi Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli
    R A Britton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Microbiol 27:739-50. 1998
    ..Possible functions for Era in cell cycle progression and the initiation of cell division are discussed...
  61. ncbi Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies
    L E Warner
    Department of Molecular and Human Genetics, Baylor College of Medicine, Hoston, TX 77030, USA
    Hum Mol Genet 8:1245-51. 1999
    ..These data provide insight into the possible disease mechanisms underlying EGR2 mutations and the reason for varying severity and differences in inheritance patterns...
  62. ncbi An evaluation of the draft human genome sequence
    N Katsanis
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, Texas 77030, USA
    Nat Genet 29:88-91. 2001
    ....
  63. ncbi Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication
    C A Wise
    Institute for Molecular Genetics, Baylor College of Medicine, Houston 77030
    Am J Hum Genet 53:853-63. 1993
    ....
  64. ncbi The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
    P Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 11:1205-10. 2001
    ..These observations further indicate that higher order genomic architecture involving low-copy repeats resulting from genomic duplication plays a significant role in karyotypic evolution...
  65. ncbi Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    B B Roa
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 5:269-73. 1993
    ..These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22...
  66. ncbi CNV and nervous system diseases--what's new?
    W Gu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Cytogenet Genome Res 123:54-64. 2008
    ..31 and 15q13.3, as well as their reciprocal duplications, were also identified. In this review, we provide an overview of the phenotypic manifestation of these syndromes and the rearrangements causing them...
  67. ncbi Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy
    L Pentao
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030
    Am J Hum Genet 50:690-9. 1992
    ..This finding suggests that rod monochromacy maps to chromosome 14, and it emphasizes the importance of uniparental isodisomy to provide a putative chromosomal assignment of a gene for a rare autosomal recessive disorder...
  68. ncbi Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction
    J R Lupski
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    J Bacteriol 172:6129-34. 1990
    ..The data suggest that the glpF and glpK genes are in an operon with a bent DNA segment (BENT-6) involved in transcriptional regulation of this operon...
  69. ncbi The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2
    K S Chen
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 3498
    Am J Hum Genet 56:175-82. 1995
    ..Southern blot analysis of somatic-cell hybrids and/or FISH analysis of lymphoblastoid cell lines from 12 SMS patients demonstrates the deletion of one copy of FLI in all SMS patients analyzed...
  70. ncbi A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination
    Sarah J Lindsay
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, United Kingdom
    Am J Hum Genet 79:890-902. 2006
    ..We propose that a large-scale project to map sequence variation within segmental duplications would reveal a wealth of novel chromosomal-rearrangement hotspots...
  71. ncbi Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)
    Katherina Walz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Invest 116:3035-41. 2006
    ..These data provide a model for variation in copy number of single genes that could influence common traits such as obesity and behavior...
  72. ncbi Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA
    Neuron 52:103-21. 2006
    ..We speculate that CNV could underlie a significant proportion of normal human variation including differences in cognitive, behavioral, and psychological features...
  73. ncbi Genome structural variation and sporadic disease traits
    James R Lupski
    Nat Genet 38:974-6. 2006
  74. ncbi Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA
    Hum Mol Genet 15:2250-65. 2006
    ....
  75. ncbi Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
    Jiong Yan
    Department of Molecular and Human Genetics, Houston, Texas, USA
    Am J Med Genet A 140:1531-41. 2006
    ..Furthermore, bioinformatic analyses of the NIPBL protein revealed several novel domains, which may give further clues about potential functions of this protein...
  76. ncbi Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 140:442-52. 2006
    ..In silico analysis of breakpoint regions revealed the presence of highly identical low-copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation...
  77. ncbi Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]
    Alica M Goldman
    Department of Neurology, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    J Child Neurol 21:93-8. 2006
    ....
  78. ncbi RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030 3498, USA
    Am J Med Genet A 140:2454-63. 2006
    ....
  79. ncbi Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike
    Jiong Yan
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 80:518-25. 2007
    ....
  80. ncbi AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12
    Melanie Babcock
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Genome Res 17:451-60. 2007
    ..This demonstrates that AT-rich repeats have shaped or altered the structure of the genome during evolution...
  81. ncbi The complete genome of an individual by massively parallel DNA sequencing
    David A Wheeler
    Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nature 452:872-6. 2008
    ..This is the first genome sequenced by next-generation technologies. Therefore it is a pilot for the future challenges of 'personalized genome sequencing'...
  82. ncbi Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 10:267-77. 2008
    ..To date, only a small number of patients with 22q11.2 microduplication have been identified...
  83. ncbi A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    Jennifer A Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, 77030, USA
    Cell 131:1235-47. 2007
    ..We propose that complex duplication and deletion rearrangements associated with PMD, and potentially other nonrecurrent rearrangements, may be explained by this replication-based mechanism...
  84. ncbi Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
    Kinga Szigeti
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 604B, Houston, TX 77030, USA
    Neurogenetics 8:257-62. 2007
    ..We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain...
  85. ncbi Population bottlenecks as a potential major shaping force of human genome architecture
    Adrian Gherman
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America
    PLoS Genet 3:e119. 2007
    ....
  86. ncbi Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
    Sau W Cheung
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Am J Med Genet A 143:1679-86. 2007
    ..This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics...
  87. ncbi Molecular detection and genotyping of pathogens: more accurate and rapid answers
    James Versalovic
    Dept of Pathology, Baylor College of Medicine, Houston, TX 77030, USA
    Trends Microbiol 10:S15-21. 2002
    ..When applied selectively in the laboratory, these applications can enhance diagnostic approaches and clinical management and will probably evolve into standard laboratory and point-of-care testing protocols...
  88. ncbi Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030 3498, USA
    Hum Mol Genet 16:1802-13. 2007
    ....
  89. ncbi Structural variation in the human genome
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, USA
    N Engl J Med 356:1169-71. 2007
  90. ncbi Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
    Lorraine Potocki
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 80:633-49. 2007
    ..Our results refine the critical region for Potocki-Lupski syndrome, provide information to assist in clinical diagnosis and management, and lend further support for the concept that genomic architecture incites genomic instability...
  91. ncbi Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux
    Weining Lu
    Genetics Division, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 80:616-32. 2007
    ..Adult heterozygous and mosaic mutant mice with reduced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes. Collectively, these results implicate the SLIT-ROBO signaling pathway in the pathogenesis of a subset of human VUR...
  92. ncbi Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management
    Kinga Szigeti
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 8:86-92. 2006
    ..An evidence-based approach was used to determine the frequency distribution of genes contributing to the Charcot-Marie-Tooth (CMT) disease phenotype...
  93. ncbi Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Hum Mol Genet 14:3865-75. 2005
    ..Haplotype analysis in the family in which LCA3 was mapped excluded RDH12 as the LCA3 gene and thus suggests the presence of a novel arRD gene in this region...
  94. ncbi Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
    Am J Hum Genet 73:1302-15. 2003
    ..The role of any or all of these in stimulating double-strand breaks around this positional recombination hotspot remains to be explored...
  95. ncbi Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
    Lorraine Potocki
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 5:430-4. 2003
    ..There is no pathognomonic clinical feature, no characteristic cardiovascular defect, renal anomaly, otolaryngological or ophthalmic abnormality in SMS...
  96. ncbi Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance
    Katherina Walz
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Mol Cell Biol 23:3646-55. 2003
    ..Our murine models represent a powerful tool to analyze the consequences of gene dosage imbalance in this genomic interval and to investigate the molecular genetic bases of both SMS and dup(17)(p11.2p11.2)...
  97. ncbi Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
    Philip L Beales
    Molecular Medicine Unit, Institute of Child Health, University College London, United Kingdom
    Am J Hum Genet 72:1187-99. 2003
    ....
  98. ncbi The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis
    Alan E Schlesinger
    Department of Diagnostic Imaging, Texas Children s Hospital, 6621 Fannin Street, MC2 2521, Houston 77030, USA
    Pediatr Radiol 33:173-6. 2003
    ..This technique has confirmed brachydactyly and has suggested conflicting MCPPPA results...
  99. ncbi Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation
    Ken Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 52:836-42. 2002
    ..In contrast with the SOX10 loss-of-function mutations causing only WS4, mutations associated with both peripheral and central dysmyelination may affect pathology through a dominant-negative mechanism...
  100. ncbi Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2
    Christine J Shaw
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 71:1072-81. 2002
    ....
  101. ncbi Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
    Ken Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 71:838-53. 2002
    ..In one family, junction sequences revealed a complex recombination event. Our data suggest that PLP1 deletions are likely caused by nonhomologous end joining...

Research Grants29

  1. CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
    JAMES LUPSKI; Fiscal Year: 2005
    ..abstract_text> ..
  2. ABCR, Macular Dystrophies and Degeneration
    JAMES LUPSKI; Fiscal Year: 2005
    ..abstract_text> ..
  3. Molecular basis of the craniofacial anomalies in SMS
    JAMES LUPSKI; Fiscal Year: 2006
    ..Furthermore, our investigations will likely aid in the understanding of the genetic regulation of normal craniofacial development as well as the development of anomalies associated with SMS. ..
  4. Chromosome Rearrangements and Mental Retardation
    JAMES LUPSKI; Fiscal Year: 2005
    ..abstract_text> ..
  5. Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.
    JAMES LUPSKI; Fiscal Year: 2009
    ..Our findings will have widespread diagnostic and therapeutic implications for these and other neurodegenerative diseases that can result from gene copy number variation (CNV). ..
  6. CMT PERIPHERAL NEUROPATHY II MOLECULAR ANALYSIS
    JAMES LUPSKI; Fiscal Year: 1993
    ..This understanding may elucidate options for therapeutic intervention for some forms of CMT...
  7. CMT PERIPHERAL NEUROPATHY--I LINKAGE ANALYSIS
    JAMES LUPSKI; Fiscal Year: 1992
    ..It should allow a better assessment of non-allelic heterogeneity in this disorder and may have an impact on presymptomatic and prenatal diagnosis...
  8. CMT PERIPHERAL NEUROPATHY--III MOLECULAR MECHANISMS
    JAMES LUPSKI; Fiscal Year: 2001
    ..Hypotheses to be addressed involve mechanisms of reciprocal recombination events associated with deletions and duplications. Also the genes in the CMT1A other than PMP22 will be evaluated. ..
  9. Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.
    James R Lupski; Fiscal Year: 2010
    ..Our findings will have widespread diagnostic and therapeutic implications for these and other neurodegenerative diseases that can result from gene copy number variation (CNV). ..