J Gitschier

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Sweating the details: an interview with Jamie Thomson
    Jamie Thomson
    PLoS Genet 4:e1000182. 2008
  2. pmc Stable in a genome of instability: an interview with Evan Eichler. Interview by Jane Gitschier
    Evan Eichler
    PLoS Genet 4:e1000124. 2008
  3. pmc Imagine: an interview with Svante Pääbo. Interview by Jane Gitschier
    Svante Paabo
    PLoS Genet 4:e1000035. 2008
  4. pmc Ready for her close-up: an interview with Elaine Strass [interview by Jane Gitschier]
    Elaine Strass
    PLoS Genet 4:e1000002. 2008
  5. pmc The exception that proves the rule: an interview with Jenny Graves. Interview by Jane Gitschier
    Jenny Graves
    PLoS Genet 4:e1000063. 2008
  6. pmc Inferential genotyping of Y chromosomes in Latter-Day Saints founders and comparison to Utah samples in the HapMap project
    Jane Gitschier
    Department of Medicine and Pediatrics and Institute for Human Genetics, University of California, San Francisco, CA 94143, USA
    Am J Hum Genet 84:251-8. 2009
  7. ncbi request reprint Remembrances of factor VIII. Part 2: the path to mutation discovery
    J Gitschier
    Department of Medicine and Pediatrics, Howard Hughes Medical Institute, San Francisco, CA, USA
    J Thromb Haemost 4:1175-9. 2006
  8. ncbi request reprint Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
    C Vulpe
    Department of Biochemistry, Howard Hughes Medical Institute, San Francisco, California
    Nat Genet 3:7-13. 1993
  9. ncbi request reprint A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
    B Levinson
    Howard Hughes Medical Institute, University of California, San Francisco 94143, USA
    Hum Mol Genet 5:1737-42. 1996
  10. ncbi request reprint The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency
    L Huang
    Howard Hughes Medical Institute and Department of Medicine, University of California, San Francisco, California 94143 0794, USA
    Nat Genet 23:329-32. 1999

Collaborators

  • S Das
  • L Huang
  • Evan Eichler
  • H Chen
  • W J Fairbrother
  • K Wang
  • Y Pan
  • S E Antonarakis
  • A T McKie
  • G J Anderson
  • T Su
  • Y M Kuo
  • B Levinson
  • B Zhou
  • Svante Paabo
  • Jamie Thomson
  • Jenny Graves
  • Elaine Strass
  • S J Hayflick
  • B Elder
  • S Packman
  • Z Attieh
  • C D Vulpe
  • B A Syed
  • M A Johnson
  • D Cosco
  • S K Westaway
  • D Lakich
  • C Vulpe
  • S Kenwrick
  • A Metzenberg
  • C Diamond
  • R Schnur
  • R Conant
  • A Chishti
  • A Kim
  • K Kuo
  • S Jonsdottir
  • C Martin
  • A B Metzenberg
  • S Kogan
  • F Verley
  • H H Kazazian
  • S Whitney
  • M Patterson
  • A Shapiro
  • W I Wood
  • O Jensson
  • K Fisher
  • S Magnusson
  • F R Jackson
  • P Gamel
  • V Chapman
  • S Taylor
  • J R Bermingham
  • B Keyt
  • C C Simonsen
  • U Froster-Iskenius
  • H Dorkins
  • R M Lawn
  • E Delwart
  • D J Capon
  • E G Tuddenham
  • K L Wion
  • D L Eaton
  • D H Smith
  • M Bell
  • J Sobell
  • P Hollingshead
  • S Thibodeau
  • G A Vehar
  • D Schaid
  • G Hammonds
  • R Janco
  • G R Strichartz
  • L M Hall
  • P H Seeburg
  • S Sommer
  • J Phillips
  • J Bloomfield

Detail Information

Publications66

  1. pmc Sweating the details: an interview with Jamie Thomson
    Jamie Thomson
    PLoS Genet 4:e1000182. 2008
  2. pmc Stable in a genome of instability: an interview with Evan Eichler. Interview by Jane Gitschier
    Evan Eichler
    PLoS Genet 4:e1000124. 2008
  3. pmc Imagine: an interview with Svante Pääbo. Interview by Jane Gitschier
    Svante Paabo
    PLoS Genet 4:e1000035. 2008
  4. pmc Ready for her close-up: an interview with Elaine Strass [interview by Jane Gitschier]
    Elaine Strass
    PLoS Genet 4:e1000002. 2008
  5. pmc The exception that proves the rule: an interview with Jenny Graves. Interview by Jane Gitschier
    Jenny Graves
    PLoS Genet 4:e1000063. 2008
  6. pmc Inferential genotyping of Y chromosomes in Latter-Day Saints founders and comparison to Utah samples in the HapMap project
    Jane Gitschier
    Department of Medicine and Pediatrics and Institute for Human Genetics, University of California, San Francisco, CA 94143, USA
    Am J Hum Genet 84:251-8. 2009
    ....
  7. ncbi request reprint Remembrances of factor VIII. Part 2: the path to mutation discovery
    J Gitschier
    Department of Medicine and Pediatrics, Howard Hughes Medical Institute, San Francisco, CA, USA
    J Thromb Haemost 4:1175-9. 2006
  8. ncbi request reprint Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
    C Vulpe
    Department of Biochemistry, Howard Hughes Medical Institute, San Francisco, California
    Nat Genet 3:7-13. 1993
    ..The gene is transcribed in all cell types tested except liver, consistent with the expression of the Menkes defect...
  9. ncbi request reprint A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
    B Levinson
    Howard Hughes Medical Institute, University of California, San Francisco 94143, USA
    Hum Mol Genet 5:1737-42. 1996
    ..Other experiments revealed no effect on the site of transcription initiation, termination or on splicing...
  10. ncbi request reprint The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency
    L Huang
    Howard Hughes Medical Institute and Department of Medicine, University of California, San Francisco, California 94143 0794, USA
    Nat Genet 23:329-32. 1999
    ..Whereas the mocha and pearl SPD mutants have defects in Ap-3, our findings suggest that pa SPD mutants are defective in a more downstream event of vesicle-trafficking: namely, vesicle-docking and fusion...
  11. ncbi request reprint A transcribed gene in an intron of the human factor VIII gene
    B Levinson
    Howard Hughes Medical Institute, University of California, San Francisco 94143
    Genomics 7:1-11. 1990
    ..A homologous, transcribed sequence is also present in mice...
  12. ncbi request reprint Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase
    J Gitschier
    Howard Hughes Medical Institute, University of California, San Francisco 94143, USA
    Nat Struct Biol 5:47-54. 1998
    ..Menkes mbd4 is thus the first bicoordinate copper-binding protein to be characterized structurally. Sequence comparisons with other heavy-metal-binding domains reveal a conserved hydrophobic core and metal-binding motif...
  13. pmc Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3
    K Wang
    Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San Francisco, CA, USA
    Am J Hum Genet 68:1055-60. 2001
    ..89 between D8S1713 and D8S373. Sliding three-point analysis resulted in a maximum LOD score of 5.16 between markers D8S1727 and D8S1744...
  14. ncbi request reprint A novel gene involved in zinc transport is deficient in the lethal milk mouse
    L Huang
    Howard Hughes Medical Institute, University of California, San Francisco 94143, USA
    Nat Genet 17:292-7. 1997
    ..The lethal milk mutant has a nonsense mutation at arginine codon 297 in the Znt4 gene...
  15. ncbi request reprint A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
    B Zhou
    Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, Parnassus and Third Avenues, U 426, San Francisco, California 94143, USA
    Nat Genet 28:345-9. 2001
    ..Here we show that HSS is caused by a defect in a novel pantothenate kinase gene and propose a mechanism for oxidative stress in the pathophysiology of the disease...
  16. ncbi request reprint Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters
    Y M Kuo
    Department of Medicine, University of California, San Francisco 94143, USA
    Hum Mol Genet 6:1043-9. 1997
    ....
  17. ncbi request reprint Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    D Lakich
    Howard Hughes Medical Institute, University of California, San Francisco 94143 0724
    Nat Genet 5:236-41. 1993
    ..We present evidence to support this model and describe a Southern blot assay that detects the inversion. These findings should be valuable for genetic prediction of haemophilia A in approximately 45% of families with severe disease...
  18. pmc Diverse mutations in patients with Menkes disease often lead to exon skipping
    S Das
    Department of Medicine, University of California, San Francisco
    Am J Hum Genet 55:883-9. 1994
    ..These findings, combined with the prior observation of deletions in 15%-20% of Menkes patients, suggest that Southern blot hybridization and RT-PCR will identify mutations in the majority of patients...
  19. ncbi request reprint Sequence of the human factor VIII-associated gene is conserved in mouse
    B Levinson
    Howard Hughes Medical Institute, University of California, San Francisco 94143
    Genomics 13:862-5. 1992
    ..This evolutionary comparison has helped to clarify the derived amino acid sequence in the human and strongly supports the hypothesis that the F8A gene encodes a protein...
  20. pmc The copper transporter CTR1 provides an essential function in mammalian embryonic development
    Y M Kuo
    Departments of Medicine and Pediatrics and the Howard Hughes Medical Institute, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 98:6836-41. 2001
    ..We conclude that CTR1 is the primary avenue for copper uptake in mammalian cells...
  21. ncbi request reprint Evidence for a third transcript from the human factor VIII gene
    B Levinson
    Howard Hughes Medical Institute, University of California, San Francisco 94143
    Genomics 14:585-9. 1992
    ..The protein encoded by this transcript would include the factor VIII C2 domain, responsible for phospholipid binding and essential for coagulant activity...
  22. pmc A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences
    B Levinson
    Howard Hughes Medical Institute, Department of Medicine, San Francisco, CA 94143
    Nucleic Acids Res 15:9797-805. 1987
    ..Mutations are detected and localized in the amplified samples by RNase A cleavage, and the altered region is then sequenced...
  23. ncbi request reprint Remembrances of factor VIII. Part 1: the race to the gene
    J Gitschier
    Department of Medicine, University of California, San Francisco, USA
    J Thromb Haemost 2:383-7. 2004
  24. ncbi request reprint The molecular basis of hemophilia A
    J Gitschier
    Howard Hughes Medical Institute, University of California, San Francisco 94143 0724
    Ann N Y Acad Sci 614:89-96. 1991
    ..Although there is still room for improvement in availability, speed, and cost of the test, many families in the United States and Europe are benefiting from this sensitive detection method...
  25. pmc Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration
    Y M Kuo
    Department of Medicine, University of California, San Francisco, CA, USA
    J Inherit Metab Dis 30:310-7. 2007
    ..PA deprivation provides a useful phenocopy for PKAN and allows us to test pharmacological and other interventional strategies in the treatment of this devastating disease...
  26. pmc Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse
    Y M Kuo
    Departments of Medicine and Pediatrics, University of California San Francisco, San Francisco, CA 94143 0794, USA
    Gut 53:201-6. 2004
    ..Sex linked anaemia (sla) mice have a defect in the release of iron from intestinal enterocytes into the circulation due to an interstitial deletion in the hephaestin gene (heph)...
  27. pmc hCTR1: a human gene for copper uptake identified by complementation in yeast
    B Zhou
    Howard Hughes Medical Institute, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 94:7481-6. 1997
    ....
  28. ncbi request reprint cDNA sequence and genomic structure of the murine p55 (Mpp1) gene
    B Elder
    Howard Hughes Medical Institute, University of California, San Francisco 94143, USA
    Genomics 38:231-4. 1996
    ..Conservation of the Mpp1 gene between mouse and human gives support to the notion that construction and study of a mouse knockout model may help establish the function of the human MPP1 gene, a potential tumor suppressor gene...
  29. ncbi request reprint Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
    Y Pan
    Howard Hughes Medical Institute, University of California, San Francisco 94143
    Nat Genet 2:103-6. 1992
    ..Other mutations include three missense mutations, a frameshift and one small in-frame deletion. These results represent one of the first examples of recessive mutations affecting a G protein-coupled receptor...
  30. ncbi request reprint Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A
    C Diamond
    Howard Hughes Medical Institute, University of California, San Francisco 94143
    Hum Mutat 1:248-57. 1992
    ..Ten of the 18 different mutations discovered in this patient population are reported here for the first time...
  31. ncbi request reprint The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene
    A B Metzenberg
    Howard Hughes Medical Institute, University of California, San Francisco 94143 0724
    Hum Mol Genet 1:97-101. 1992
    ..Since the function of the p55 protein is not known, the p55 gene is formally a candidate for any of the 19 or more disease genes that have not been isolated but are closely linked genetically to the factor VIII gene...
  32. pmc Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
    S Kogan
    Department of Medicine, University of California, San Francisco 94143 0724
    Proc Natl Acad Sci U S A 87:2092-6. 1990
    ..These results suggest that DNA amplification and denaturing gradient gel electrophoresis should be an excellent strategy for identifying mutations and polymorphisms in defined regions of the factor VIII gene and other large genes...
  33. ncbi request reprint Detection and sequence of mutations in the factor VIII gene of haemophiliacs
    J Gitschier
    Nature 315:427-30. 1985
    ..Our survey of 92 haemophiliacs indicates no firm correlation between antibody (inhibitor) production and gross gene defects...
  34. ncbi request reprint Expression of active human factor VIII from recombinant DNA clones
    W I Wood
    Nature 312:330-7. 1984
    ..The recombinant protein corrects the clotting time of plasma from haemophiliacs and has many of the biochemical and immunological characteristics of serum-derived factor VIII...
  35. ncbi request reprint Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis
    S Jonsdottir
    Department of Medical Genetics, National University Hospital, Reykjavik, Iceland
    Hum Mutat 1:506-8. 1992
  36. ncbi request reprint Sequence of the exon-containing regions of the human factor VIII gene
    J Gitschier
    Department of Molecular Biology, Genentech, Inc, S San Francisco, CA 94080
    Hum Mol Genet 1:199-200. 1992
  37. ncbi request reprint Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII gene
    S Kenwrick
    University of Cambridge Department of Medicine, Addenbrooke s Hospital, UK
    Hum Mol Genet 1:179-86. 1992
    ..1B define a region of Xq28 that is deleted in two brothers that suffer from mental handicap and dysmorphism as well as hemophilia A. Thus, this region is likely to contain loci that are important for physical and mental development...
  38. ncbi request reprint The mottled gene is the mouse homologue of the Menkes disease gene
    B Levinson
    Department of Medicine, University of California, San Francisco 94143 0724
    Nat Genet 6:369-73. 1994
    ..These studies prove that the mottled mouse is the murine model for Menkes disease, providing the basis for future biochemical and therapeutic studies...
  39. pmc An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767)
    M Patterson
    Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, England
    Am J Hum Genet 44:679-85. 1989
    ..Genetic data suggest that F8C and DXS115 are tightly linked (theta max = .04; Zmax = 8.30). Recombination events in meioses informative for DXS52 (St14), DXS115, and F8C suggest that DXS115 and F8C lie distal to DXS52...
  40. ncbi request reprint Genetic modifications of voltage-sensitive sodium channels in Drosophila: gene dosage studies of the seizure locus
    F R Jackson
    J Neurosci 5:1144-51. 1985
    ..Nevertheless, the mutant seits-2 allele has codominant and dose-dependent effects on paralytic behavior and saxitoxin-binding activity.(ABSTRACT TRUNCATED AT 250 WORDS)..
  41. ncbi request reprint Sequence of the murine factor VIII cDNA
    B Elder
    Department of Medicine, University of California, San Francisco 94143
    Genomics 16:374-9. 1993
    ..These findings suggest that mouse factor VIII operates in the clotting cascade much like the human protein, but reveal some differences that may have functional significance...
  42. ncbi request reprint Identification of a missense mutation in the factor VIII gene of a mild hemophiliac
    J Gitschier
    Science 232:1415-6. 1986
    ....