R P Erickson

Summary

Affiliation: University of Arizona
Country: USA

Publications

  1. ncbi request reprint A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndrome
    Robert P Erickson
    Department of Pediatrics, Section of Medical and Molecular Genetics, College of Medicine, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:214-5. 2007
  2. doi request reprint Navajo microvillous inclusion disease is due to a mutation in MYO5B
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona 85724 5073, USA
    Am J Med Genet A 146:3117-9. 2008
  3. ncbi request reprint The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, AZ, 85724, USA
    J Appl Genet 55:319-27. 2014
  4. doi request reprint Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, AZ 85724 5073, USA
    J Appl Genet 54:215-24. 2013
  5. ncbi request reprint Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:3309-13. 2007
  6. ncbi request reprint From "magic bullet" to "specially engineered shotgun loads": the new genetics and the need for individualized pharmacotherapy
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson 85724 5073, USA
    Bioessays 20:683-5. 1998
  7. ncbi request reprint Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona 85724 5073, USA
    Mol Reprod Dev 75:1071-6. 2008
  8. ncbi request reprint mdr1a deficiency corrects sterility in Niemann-Pick C1 protein deficient female mice
    Robert P Erickson
    Department of Pediatrics, Section of Medical and Molecular Genetics, Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Arizona, USA
    Mol Reprod Dev 62:167-73. 2002
  9. pmc Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, University of Arizona Health Sciences Center, Tucson, AZ 85727 5073, USA
    J Med Genet 38:761-6. 2001
  10. ncbi request reprint Southwestern Athabaskan (Navajo and Apache) genetic diseases
    R P Erickson
    Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA
    Genet Med 1:151-7. 1999

Detail Information

Publications79

  1. ncbi request reprint A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndrome
    Robert P Erickson
    Department of Pediatrics, Section of Medical and Molecular Genetics, College of Medicine, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:214-5. 2007
  2. doi request reprint Navajo microvillous inclusion disease is due to a mutation in MYO5B
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona 85724 5073, USA
    Am J Med Genet A 146:3117-9. 2008
    ..We have developed a simple restriction enzyme based assay that allows for rapid screening for this mutation...
  3. ncbi request reprint The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, AZ, 85724, USA
    J Appl Genet 55:319-27. 2014
    ..We consider these likely to be the main factors responsible for the low AR to AD/XL inheritance ratio. ..
  4. doi request reprint Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, AZ 85724 5073, USA
    J Appl Genet 54:215-24. 2013
    ..More research will be needed in order to definitively solve the second controversy...
  5. ncbi request reprint Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:3309-13. 2007
    ..In addition to retinal colobomata, these patients also show severe microcephaly, mental retardation and short stature...
  6. ncbi request reprint From "magic bullet" to "specially engineered shotgun loads": the new genetics and the need for individualized pharmacotherapy
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson 85724 5073, USA
    Bioessays 20:683-5. 1998
    ..Advances in the ability to rapidly identify these variants, when coupled with appropriate drug delivery systems, should revolutionize pharmacotherapy...
  7. ncbi request reprint Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona 85724 5073, USA
    Mol Reprod Dev 75:1071-6. 2008
    ..We conclude that only the A/J strain, with several loci affecting orofacial clefting, is influenced by Nat2...
  8. ncbi request reprint mdr1a deficiency corrects sterility in Niemann-Pick C1 protein deficient female mice
    Robert P Erickson
    Department of Pediatrics, Section of Medical and Molecular Genetics, Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Arizona, USA
    Mol Reprod Dev 62:167-73. 2002
    ..The results show that a mdr1a mutation is an in vivo suppressor of female sterility in npc1 deficient mice...
  9. pmc Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, University of Arizona Health Sciences Center, Tucson, AZ 85727 5073, USA
    J Med Genet 38:761-6. 2001
    ..Photophobia, exotropia, ptosis, congenital ectropion, and congenital cataracts are additional eye findings. Recently, we reported that truncating mutations in the forkhead transcription family member FOXC2 resulted in LD in two families...
  10. ncbi request reprint Southwestern Athabaskan (Navajo and Apache) genetic diseases
    R P Erickson
    Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA
    Genet Med 1:151-7. 1999
    ..This study reviews background information on Athabaskan groups and clinical descriptions of these recessive disorders...
  11. ncbi request reprint Genetic variation in beta-adrenergic receptors and their relationship to susceptibility for asthma and therapeutic response
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research, Department of Pediatrics and Molecular and Cellular Biology, University of Arizona College of Medicine, Tucson, USA
    Drug Metab Dispos 29:557-61. 2001
    ..Our results, and those of other groups relating SNPs in the beta-adrenergic receptor to a number of responses, mostly related to asthma, are reviewed in this article...
  12. ncbi request reprint A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:3302-8. 2007
    ..2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome...
  13. ncbi request reprint Cholesterol signaling at the endoplasmic reticulum occurs in npc1(-/-) but not in npc1(-/-), LDLR(-/-) mice
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, University of Arizona College of Medicine, Tucson, Arizona 85724, USA
    Biochem Biophys Res Commun 284:326-30. 2001
    ....
  14. doi request reprint An N-ethyl-N-nitrosourea-induced mutation in N-acetyltransferase 1 in mice
    Robert P Erickson
    Department of Pediatrics, University of Arizona, 1501 N Campbell Avenue, P O Box 245073, Tucson, AZ 85724, USA
    Biochem Biophys Res Commun 370:285-8. 2008
    ..Analysis of hepatic Nat1 activity with the selective substrate isoniazid showed that there was a significant reduction in enzymatic activity in the homozygous mutants compared to the parental strain...
  15. doi request reprint Genes, environment, and orofacial clefting: N-acetyltransferase and folic acid
    Robert P Erickson
    Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona 85724 5073, USA
    J Craniofac Surg 21:1384-7. 2010
    ..Our results support epidemiological findings in humans and possibly implicate altered cytosine methylation, potentially caused by environmental factors, at least in the A/J model...
  16. ncbi request reprint Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: possible variants of Gollop-Wolfgang complex
    Robert P Erickson
    Department of Pediatrics, Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85724 5073, USA
    Am J Med Genet A 134:315-7. 2005
    ..These appear to be unique combinations of defects but overlap with the Gollop-Wolfgang complex is present, particularly with the case of possible Gollop-Wolfgang described by Raas-Rothschild et al...
  17. ncbi request reprint Somatic gene mutation and human disease other than cancer
    Robert P Erickson
    Angel Charity for Children Wings for Genetic Research, Department of Pediatrics and Molecular and Cellular Biology, University of Arizona College of Medicine, University of Arizona, Tucson, AZ 85724 5073, USA
    Mutat Res 543:125-36. 2003
    ..Although the parameters to allow careful quantitation are not yet available, it seems that the frequency of gene mutation in embryonic cells is not markedly different than that in the germ-line...
  18. ncbi request reprint Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet
    Robert P Erickson
    Department of Pediatrics, School of Health Sciences, University of Arizona, 1501 N Campbell Avenue, P O Box 245073, Tucson, AZ 85724 5073
    Am J Physiol Gastrointest Liver Physiol 289:G300-7. 2005
    ..In conclusion, Npc1-/- mice on a high-fat diet provide an animal model of NPC cholestatic hepatitis and indicate a role for altered bile acid transport in its pathogenesis...
  19. ncbi request reprint Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male
    Robert P Erickson
    Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona 85724 5073, USA
    Am J Med Genet A 123:64-7. 2003
    ..Thus, there is no evidence of any chromosome 22 trisomic material. In this case, the rare events of sex reversal and 22q11.2 deletion may have occurred together by chance...
  20. ncbi request reprint Correlation of susceptibility to 6-aminonicotinamide and hydrocortisone-induced cleft palate
    Robert P Erickson
    Department of Pediatrics 4341B, 1501 N Campbell Avenue, P O Box 245073, Tucson, Arizona 85724 5073, USA
    Life Sci 76:2071-8. 2005
    ..The C57BL/6J parental line and five other RI lines exhibited low incidence of CP for these teratogens. In contrast, there was no significant correlation between incidence of PT-induced CL(P) and HC-induced CP...
  21. doi request reprint Autosomal recessive diseases among the Athabaskans of the southwestern United States: recent advances and implications for the future
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona 85701, USA
    Am J Med Genet A 149:2602-11. 2009
    ..Prejudice against human genetic research is high among the Southwestern Athabaskans but attempts to bridge the gap are now occurring. The involvement of Navajo scientists in this process is especially encouraging...
  22. pmc Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population
    Robert P Erickson
    Department of Pediatrics, University of Arizona, 1501N Campbell Avenue, P O Box 245073, Tucson, AZ 85724 5073, USA
    Neurosci Lett 447:153-7. 2008
    ..These findings can also be interpreted as indicating a role for NPC1 in aging, a role also suggested by NPC1's role in Dauer formation (hibernation, a longevity state) in Caenorhabditis elegans...
  23. ncbi request reprint Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease
    F Camargo
    Steele Memorial Children's Research Center, Department of Pediatrics, The University of Arizona College of Medicine, Tucson 85724, USA
    Life Sci 70:131-42. 2001
    ..Intrathecal delivery of HPBCD by an Alzet osmotic minipump did not improve its efficacy in ameliorating neurological symptoms...
  24. ncbi request reprint Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments
    W S Garver
    Departments of Cell Biology and Anatomy, University of Arizona, Steele Memorial Children s Research Center, Tucson, Arizona 85724, USA
    J Lipid Res 41:673-87. 2000
    ....
  25. ncbi request reprint Fine linkage and physical mapping suggests cross-over suppression with a retroposon insertion at the npc1 mutation
    S J Hsu
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona, Tucson, Arizona 85724, USA
    Mamm Genome 11:774-8. 2000
    ....
  26. ncbi request reprint Sites of transcription of the Müllerian inhibiting substance gene in mouse testis
    A Ao
    Department of Pediatrics, Steele Memorial Children s Research Center, University of Arizona Health Science Center, University of Arizona, Tucson 85724
    Mol Reprod Dev 35:159-64. 1993
    ..Inasmuch as the germ cell-enriched fraction contains some Sertoli cells, and XX,Sxra and XX,Sxrb which have germ cell-depleted testes, contain MIS mRNA, a Sertoli cell source remains likely for the seminiferous tubule compartment...
  27. ncbi request reprint Construction of a long-range YAC physical map spanning the 10-cM region between the markers D18Mit109 and D18Mit68 on mouse proximal chromosome 18
    S J Hsu
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Department of Pediatrics, The University of Arizona, Tucson 85721, USA
    Genome 43:427-33. 2000
    ..The physical map has been integrated with our previously published genetic linkage map and showed an average genetic to physical distance of cM/Mb > 1.1...
  28. ncbi request reprint Gene expression, X-inactivation, and methylation during spermatogenesis: the case of Zfa, Zfx, and Zfy in mice
    R P Erickson
    Steele Memorial Children s Research Center, University of Arizona, Tucson
    Mol Reprod Dev 35:114-20. 1993
    ..Thus, Zfx is not methylated in sperm, while Zfy is, in contrast to their apparent patterns of expression...
  29. pmc Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
    J Fang
    Department of Pediatrics, University of Michigan, Ann Arbor, MI, 48109, USA
    Am J Hum Genet 67:1382-8. 2000
    ..FOXC2 represents the second known gene to result in hereditary lymphedema, and LD is only the second hereditary disorder known to be caused by a mutation in a forkhead-family gene...
  30. pmc Transcription of the sex-determining region genes Sry and Zfy in the mouse preimplantation embryo
    T Zwingman
    Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona, Tucson 85724
    Proc Natl Acad Sci U S A 90:814-7. 1993
    ..Developmental curves show that Sry and Zfy are expressed commencing at the two-cell stage. These results suggest that mammalian sex determination starts prior to gonad differentiation...
  31. doi request reprint Expression of Npc1 in glial cells corrects sterility in Npc1(-/-) mice
    C Donohue
    Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
    J Appl Genet 50:385-90. 2009
    ..We conclude that the correction of sterility in GFAP-Npc1E, Npc1(-/-) mice is a result of restoring hypothalamic control of the pituitary...
  32. ncbi request reprint Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA
    J Inherit Metab Dis 23:54-62. 2000
    ..Although these treatments significantly ameliorated liver cholesterol storage, little effect on the onset of neurological symptoms was found...
  33. ncbi request reprint Altered expression of caveolin-1 and increased cholesterol in detergent insoluble membrane fractions from liver in mice with Niemann-Pick disease type C
    W S Garver
    Angel Charity for Children Wings for Genetic Research, Section of Medical and Molecular Genetics, The University of Arizona, College of Medicine, Tucson 85724, USA
    Biochim Biophys Acta 1361:272-80. 1997
    ....
  34. ncbi request reprint Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2
    M H Witte
    Department of Surgery, University of Arizona College of Medicine, Tucson, AZ 85724 5200, USA
    Lymphology 42:152-60. 2009
    ....
  35. ncbi request reprint High-resolution mapping of the spm (Niemann-Pick Type C) locus on mouse chromosome 18
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona, Tucson, Arizona 85724, USA
    Mamm Genome 8:355-6. 1997
  36. ncbi request reprint Transcription of circular and noncircular forms of Sry in mouse testes
    T Zwingman
    Department of Pediatrics, University of Arizona Health Sciences Center, Tucson
    Mol Reprod Dev 37:370-81. 1994
    ..Thus Sry is expressed in pre- and postmeiotic germ cells and in somatic cells of the testes...
  37. ncbi request reprint Sequence variation in the 5', putative promoter of Sry and its possible relevance to the C57BL/6J-YDOM sex reversal
    P E Graves
    Department of Pediatrics, University of Arizona, Tucson 85724
    Biochem Biophys Res Commun 208:624-8. 1995
    ..A PCR strategy to search for deletions in this region disclosed another deletion which was shown to be different by sequencing...
  38. ncbi request reprint Expression of Niemann-Pick type C transcript in rodent cerebellum in vivo and in vitro
    T Falk
    Department of Physiology, University of Arizona College of Medicine, Tucson, AZ 85724 5051, USA
    Brain Res 839:49-57. 1999
    ..Since Npc1 is expressed at similar levels throughout development, the vulnerability of Purkinje neurons to this disease is likely to involve disruption of an interaction with other developmentally-regulated proteins...
  39. ncbi request reprint Creating a conditional mutation of Wnt-1 by antisense transgenesis provides evidence that Wnt-1 is not essential for spermatogenesis
    R P Erickson
    Steele Memorial Children s Research Center, University of Arizona, College of Medicine, Tucson 85724
    Dev Genet 14:274-81. 1993
    ..There was little effect of the antisense transgene on fertility or testicular histology suggesting that normal levels of Wnt-1 transcript are not essential for spermatogenesis...
  40. ncbi request reprint Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)
    A C Baruch
    Angel Charity for Children-Wings for Genetic Research, Department of Pediatrics, Section of Medical and Molecular Genetics, University of Arizona College of Medicine, Tucson, Arizona 85724-5073, USA
    Am J Med Genet 100:187-90. 2001
    ..We compare them to previously described cases and a recently proposed syndrome of ARA, atrial septal defect, and sensorineural deafness...
  41. ncbi request reprint Factor analysis of asthma and atopy traits shows 2 major components, one of which is linked to markers on chromosome 5q
    C J Holberg
    Arizona Respiratory Center and the Department of Pediatrics, University of Arizona Health Sciences Center, Tucson 85724, USA
    J Allergy Clin Immunol 108:772-80. 2001
    ..A variety of definitions of asthma and atopy traits have been used in genetic studies. The variables used may be correlated, increasing the likelihood of type I error...
  42. ncbi request reprint The role of multiple drug resistance proteins in fetal and/or placental protection against teratogen-induced orofacial clefting
    Lesli Ann Rawles
    Angel Charity for Children Wings for Genetic Research, Steele Children s Research Center, Department of Pediatrics, Section of Medical and Molecular Genetics, University of Arizona, Tucson, Arizona, USA
    Mol Reprod Dev 74:1483-9. 2007
    ..Mdr2 seems not to be involved in the protection of the fetus from teratogens...
  43. ncbi request reprint Comparative lymphatic, ocular, and metabolic phenotypes of Foxc2 haploinsufficient and aP2-FOXC2 transgenic mice
    A Noon
    Department of Surgery, University of Arizona, Tucson, USA
    Lymphology 39:84-94. 2006
    ..AP2-FOXC2 Tg immunohistochemistry disclosed aberrant FOXC2 expression in ectopic sites, especially embryonic heart. Lymphatic system links with fat metabolism are discussed...
  44. ncbi request reprint Only low levels of exogenous N-acetyltransferase can be achieved in transgenic mice
    W Cao
    Department of Pediatrics, Colleges of Medicine and Pharmacy, University of Arizona, Tucson, AZ 85724 5073, USA
    Pharmacogenomics J 5:255-61. 2005
    ..The failure to achieve high expression of any of the transgenes suggests that overexpression of NAT genes may have harmful effects during development...
  45. ncbi request reprint Detection of circular and linear transcripts of Sry in pre-implantation mouse embryos: differences in requirement for reverse transcriptase
    T R Boyer
    Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona, Tucson 85724
    Biochem Biophys Res Commun 198:492-6. 1994
    ..In addition, we also demonstrate that the well described reverse transcriptase activity of Taq polymerase leads to a major difference in the mode of detection of the two forms...
  46. ncbi request reprint DNA constructs designed to produce short hairpin, interfering RNAs in transgenic mice sometimes show early lethality and an interferon response
    Wen Cao
    Department of Pediatrics, Angel Charity for Children Wings for Genetic Research, Steele Memorial Childrens Research Center, USA
    J Appl Genet 46:217-25. 2005
    ..Out of 15 founders for H1 promoted constructs, only 4 had positive offspring. When transgenic lines were successfully established, the expression of the targeted genes was variable between animals and was not generally inhibitory...
  47. pmc N-acetyltransferase 2 activity and folate levels
    Wen Cao
    Department of Pediatrics, University of Arizona, Tucson, AZ 85724 5073, USA
    Life Sci 86:103-6. 2010
    ..2005)...
  48. ncbi request reprint Neural stem cell implantation extends life in Niemann-Pick C1 mice
    Iram Ahmad
    University of Arizona, Department of Pediatrics, 1501 N Campbell Avenue, P O Box 245073, Tucson, AZ 85724 5073, USA
    J Appl Genet 48:269-72. 2007
    ..Thus, in this small group of NPC mice, a single administration in the neonatal period of the NSCs (which were not engineered to over-express the missing gene and not directed into the parenchyma) was only partially therapeutic...
  49. pmc Polymorphisms of the HTR1a allele are linked to frontal brain electrical asymmetry
    Andrew W Bismark
    University of Arizona, Tucson, AZ 85721 0068, United States
    Biol Psychol 83:153-8. 2010
    ..In conclusion, variation in HTR1a can influence trait level brain activity, which may ultimately be indicative of risk for psychopathology...
  50. pmc A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population
    Zanhua Yi
    Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ 85724, USA
    Am J Hum Genet 72:62-72. 2003
    ..5%. The estimated prevalence of OCA2 in Navajos is between approximately 1 per 1,500 and 1 per 2,000. We further estimate that this mutation originated 400-1,000 years ago from a single founder...
  51. ncbi request reprint The effects of genetic variation in N-acetyltransferases on 4-aminobiphenyl genotoxicity in mouse liver
    Charlene A McQueen
    Department of Pharmacology and Toxicology, College of Pharmacy, The University of Arizona, PO Box 210207, Tucson, AZ 85721, USA
    Chem Biol Interact 146:51-60. 2003
    ..Mouse models with variation in both isoforms are needed to adequately assess the role of variation in NATs in susceptibility to 4ABP genotoxicity...
  52. ncbi request reprint Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C
    Eric C Bascuñan-Castillo
    Department of Biochemistry and Molecular Biophysics, University of Arizona, Tucson, Arizona, USA
    J Appl Genet 45:461-7. 2004
    ..Some sex differences in response and an early improvement in Rota-Rod performance suggest areas for further study...
  53. ncbi request reprint FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome
    Benjamin M Kriederman
    University of Arizona, Department of Surgery, Tucson, Arizona, USA
    Hum Mol Genet 12:1179-85. 2003
    ....
  54. ncbi request reprint An amino acid change in the DNA-binding region of Sry, found in Mus musculus domesticus and other species, does not explain C57BL/6J-YDOM sex-reversal
    P E Graves
    Steele Memorial Children s Research Center, Department of Pediatrics, University of Arizona, Tucson 85724
    Biochem Biophys Res Commun 185:310-6. 1992
    ..We demonstrate that this variation is not sufficient to explain the gradiation in the sex-reversal seen when different domesticus strains are bred to C57BL/6J females...
  55. pmc Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy
    L W Lai
    Department of Medicine, University of Arizona Health Sciences Center, Tucson, Arizona 85724, USA
    J Clin Invest 101:1320-5. 1998
    ..To our knowledge, this is the first successful gene therapy of a genetic renal disease. Our results demonstrate the potential of gene therapy as a novel treatment for hereditary renal tubular defects...
  56. ncbi request reprint Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies
    R P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Department of Pediatrics, The University of Arizona, Tucson, USA
    Clin Genet 51:331-7. 1997
    ..Although no source for the testosterone was found, this case suggests that the etiology in this patient was different and that the presence of a scrotal raphe can be used to distinguish between at least two etiologies...
  57. pmc The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice
    Larisa Nonn
    Arizona Cancer Center, University of Arizona, Tucson, Arizona 85714 5024, USA
    Mol Cell Biol 23:916-22. 2003
    ..These results show that the mitochondrial redox protein Trx-2 is required for normal development of the mouse embryo and for actively respiring cells...
  58. ncbi request reprint Chy-3 mice are Vegfc haploinsufficient and exhibit defective dermal superficial to deep lymphatic transition and dermal lymphatic hypoplasia
    Michael T Dellinger
    Department of Molecular and Cellular Biology, The University of Arizona, Tucson, Arizona, USA
    Dev Dyn 236:2346-55. 2007
    ....
  59. ncbi request reprint Studies on neuronal death in the mouse model of Niemann-Pick C disease
    Robert P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Memorial Children s Research Center, Department of Pediatrics, Section of Medical and Molecular Genetics, University of Arizona College of Medicine, Tucson, Arizona, USA
    J Neurosci Res 68:738-44. 2002
    ..These results suggest that Purkinje cell loss in npc1(-/-) mice does not proceed by an apoptotic pathway that can be inhibited by Bcl-2 or minocycline...
  60. ncbi request reprint Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick C mice
    Iram Ahmad
    Department of Pediatrics, University of Arizona, Tucson, USA
    J Neurosci Res 82:811-21. 2005
    ..We conclude that allopregnanolone treatment significantly ameliorates several symptoms of NPC in Npc1(-/-) mice, presumably by effects on myelination or neuronal connectivity...
  61. pmc Decreased Npc1 gene dosage in mice is associated with weight gain
    David Jelinek
    Department of Pediatrics, The University of Arizona, Tucson, Arizona, USA
    Obesity (Silver Spring) 18:1457-9. 2010
    ..Therefore, decreased Npc1 gene dosage resulting in decreased Npc1 protein function, promoted weight gain in mice fed a high-fat diet consistent with a gene-diet interaction...
  62. ncbi request reprint MRI detects therapeutic effects in weanling Niemann-Pick type C mice
    Silvia Lope-Piedrafita
    Biomedical Engineering Program, University of Arizona, Tucson, Arizona 85724 5073, USA
    J Neurosci Res 86:2802-7. 2008
    ..This is the earliest detection of a therapeutic effect in Npc1(-/-) mice...
  63. ncbi request reprint Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature
    Z Powis
    Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona 85724 5073, USA
    J Appl Genet 50:293-6. 2009
    ..Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature...
  64. ncbi request reprint Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA
    Zöe Powis
    Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:2910-5. 2007
    ..He was determined to be mosaic for 46,XY,trp(12)(p11.2 --> p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age...
  65. ncbi request reprint A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1)
    J W Pierpont
    Angel Charities for Children Wings for Genetic Research, Steele Memorial Children s Research Center, University of Arizona, Tucson 85724
    Hum Mutat 4:227-8. 1994
  66. doi request reprint Somatic gene mutation and human disease other than cancer: an update
    Robert P Erickson
    Angel Charity for Children Wings for Genetic Research, Steele Children s Research Center, Section of Medical and Molecular Genetics, Department of Pediatrics and Molecular and Cellular Biology, University of Arizona College of Medicine, 1501 N Campbell Avenue, PO Box 245073, University of Arizona, Tucson, AZ 85724 5073, USA
    Mutat Res 705:96-106. 2010
    ..Though the parameters to allow careful quantification are not yet available, it seems that the frequency of gene mutation in embryonic cells is not markedly different than that in the germ line...
  67. ncbi request reprint Diffusion tensor imaging in Niemann-Pick Type C disease
    Theodore P Trouard
    Biomedical Engineering Program, Section of Medical and Molecular Genetics, University of Arizona, Tucson, 85724, USA
    Pediatr Neurol 33:325-30. 2005
    ..The results from this case study suggest that diffusion tensor imaging may allow progression of the disease to be quantitatively measured and may be able to play a role as a surrogate marker in clinical trials...
  68. pmc Experimental non-alcoholic fatty liver disease results in decreased hepatic uptake transporter expression and function in rats
    Craig D Fisher
    Department of Pharmacology and Toxicology, Children s Research Center, University of Arizona, Tucson, AZ 85721, USA
    Eur J Pharmacol 613:119-27. 2009
    ..Furthermore, NAFLD may alter the plasma retention time of clinically relevant drugs that are reliant on these transporters and may increase the potential drug toxicity...
  69. ncbi request reprint A first therapy for Niemann-Pick C
    Robert P Erickson
    Lancet Neurol 6:748-9. 2007
  70. ncbi request reprint Athabascan brainstem dysgenesis syndrome
    Steve Holve
    Tuba City Indian Medical Center, Tuba City, Arizona 86045, USA
    Am J Med Genet A 120:169-73. 2003
    ..Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities. Published 2003 Wiley-Liss, Inc...
  71. ncbi request reprint Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene
    Stacie K Loftus
    National Human Genome Research Institute, Genetic Disease Research Branch, National Institutes of Health, 49 Convent Drive, Building 49, Bethesda, MD 20892, USA
    Hum Mol Genet 11:3107-14. 2002
    ....
  72. ncbi request reprint Foxc2 is expressed in developing lymphatic vessels and other tissues associated with lymphedema-distichiasis syndrome
    Susan L Dagenais
    Department of Human Genetics, University of Michigan, 4909 Buhl, Box 0618, 1241 E Catherine Street, Ann Arbor, MI 48109 0618, USA
    Gene Expr Patterns 4:611-9. 2004
    ....
  73. ncbi request reprint Understanding Niemann-Pick type C disease: a fat problem
    Inez Vincent
    Department of Pathology, K078A, University of Washington, Box 357705, 1959 NE Pacific Avenue, Seattle, WA 98195, USA
    Curr Opin Neurol 16:155-61. 2003
    ....
  74. pmc The clinical spectrum of homozygous HOXA1 mutations
    Thomas M Bosley
    The Neuro ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Am J Med Genet A 146:1235-40. 2008
    ..These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum...
  75. ncbi request reprint Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
    Max A Tischfield
    Department of Medicine, Program in Genomics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Nat Genet 37:1035-7. 2005
    ..This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system...
  76. ncbi request reprint Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients
    Lisa L Wang
    Am J Med Genet A 118:299-301. 2003
  77. ncbi request reprint Cardio(blood-lymph)vascular genomics: need for a terminology adjustment
    Marlys Hearst Witte
    Lymphology 36:159-61. 2003
  78. ncbi request reprint Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome
    Lisa L Wang
    Texas Children s Cancer Center and Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    J Natl Cancer Inst 95:669-74. 2003
    ..We examined whether a predisposition to developing osteosarcoma among an international cohort of RTS patients was associated with a distinctive pattern of mutations in the RECQL4 gene...
  79. ncbi request reprint Genetics of sexual development: a new paradigm
    Stan R Blecher
    Department of Molecular Biology and Genetics Emeritus, University of Guelph, Guelph, Ontario, Canada
    Am J Med Genet A 143:3054-68. 2007
    ..Finally, sex-chromosomal sex-determining genes influence the development not only of non-gonadal organs of secondary sexual development, but also of organs outside of the reproductive system...