H Joenje

Summary

Affiliation: Vrije Universiteit
Country: The Netherlands

Publications

  1. pmc Evidence for at least eight Fanconi anemia genes
    H Joenje
    Department of Human Genetics, Free University, Amsterdam, The Netherlands
    Am J Hum Genet 61:940-4. 1997
  2. ncbi request reprint The emerging genetic and molecular basis of Fanconi anaemia
    H Joenje
    Department of Clinical Genetics and Human Genetics, and Oncology Research Institute, Free University Medical Centre, Van der Boechorststraat 7, NL 1081 BT, Amsterdam, The Netherlands
    Nat Rev Genet 2:446-57. 2001
  3. ncbi request reprint The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG
    J P de Winter
    Department of Clinical Genetics and Human Genetics, Free University Medical Center, Van der Boechorststraat 7, NL 1081 BT Amsterdam, The Netherlands
    Hum Mol Genet 9:2665-74. 2000
  4. ncbi request reprint Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells
    Y Xie
    Department of Clinical Genetics and Human Genetics, Free University Medical Centre, Amsterdam, The Netherlands
    Br J Haematol 111:1057-64. 2000
  5. ncbi request reprint Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
    Q Waisfisz
    Department of Clinical Genetics and Human Genetics, Free University, Amsterdam, The Netherlands
    Nat Genet 22:379-83. 1999
  6. pmc Isolation of a cDNA representing the Fanconi anemia complementation group E gene
    J P de Winter
    Department of Clinical Genetics and Human Genetics, Free University Medical Center, NL 1081 BT Amsterdam, The Netherlands
    Am J Hum Genet 67:1306-8. 2000
  7. ncbi request reprint The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
    J P de Winter
    Department of Clinical Genetics, Free University, Amsterdam, The Netherlands
    Nat Genet 24:15-6. 2000
  8. pmc A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA
    Q Waisfisz
    Department of Clinical Genetics and Human Genetics, Free University, NL 1081 BT, Amsterdam, The Netherlands
    Proc Natl Acad Sci U S A 96:10320-5. 1999
  9. ncbi request reprint Mice with a targeted disruption of the Fanconi anemia homolog Fanca
    N C Cheng
    Department of Clinical Genetics and Human Genetics, Free University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands
    Hum Mol Genet 9:1805-11. 2000
  10. ncbi request reprint The Fanconi anaemia group G gene FANCG is identical with XRCC9
    J P de Winter
    Department of Human Genetics, Free University, Amsterdam, The Netherlands
    Nat Genet 20:281-3. 1998

Collaborators

  • R J Scheper
  • C G Mathew
  • Y Xie
  • J Lightfoot
  • P A Leegwater
  • L Parker
  • D Reinhardt
  • J Cloos
  • A Reis
  • D F Callen
  • R D Wegner
  • M Carreau
  • G M Kupfer
  • Sascha Meyer
  • E Gluckman
  • Feng Chen
  • Bing Xia
  • G Pals
  • Ch M Zwaan
  • F Arwert
  • J P de Winter
  • Q Waisfisz
  • N V Morgan
  • M A Rooimans
  • J C Pronk
  • M E Hoatlin
  • C G van Berkel
  • A J Tipping
  • F A Kruyt
  • J de Groot
  • L van Der Weel
  • I Demuth
  • M Digweed
  • N C Cheng
  • C J Hess
  • N Alon
  • M Buchwald
  • L Bosnoyan-Collins
  • H J van de Vrugt
  • Y Zhi
  • T Yamashita
  • J R Lo ten Foe
  • A D D'Andrea
  • M Savino
  • R K Holmes
  • M A Hermsen
  • A Savoia
  • Y de Vries
  • H Youssoufian
  • R A Gibson
  • K Komatsu
  • C Altay
  • G J Ossenkoppele
  • A Errami
  • N Ameziane
  • D Schindler
  • G J L Kaspers
  • G J Schuurhuis
  • F Denkers
  • L M Dijkmans
  • L Ianzano
  • L P Kuyt
  • K Harutyunyan
  • S Jansen
  • J T Plukker
  • M Grompe
  • G A Meijer
  • T de Ravel
  • J P Baak
  • T Pearson
  • C Havenga
  • M Shah
  • S Stone
  • A Berns
  • M Whitney
  • K Sperling
  • M Wlodarski
  • A Zatterale
  • H Kayserili
  • A B Oostra
  • J Kunze
  • S Gräsl
  • F Leveille
  • P Krimpenfort
  • J Steltenpool
  • W Ebell
  • M A van der Valk
  • M Thiel
  • K Saar
  • G R Evans

Detail Information

Publications31

  1. pmc Evidence for at least eight Fanconi anemia genes
    H Joenje
    Department of Human Genetics, Free University, Amsterdam, The Netherlands
    Am J Hum Genet 61:940-4. 1997
    ..These results thus define three new groups, FA-F, FA-G, and FA-H, providing evidence for a minimum of eight distinct FA genes...
  2. ncbi request reprint The emerging genetic and molecular basis of Fanconi anaemia
    H Joenje
    Department of Clinical Genetics and Human Genetics, and Oncology Research Institute, Free University Medical Centre, Van der Boechorststraat 7, NL 1081 BT, Amsterdam, The Netherlands
    Nat Rev Genet 2:446-57. 2001
    ..However, the recent cloning of most of the FA-associated genes, and the characterization of their protein products, has provided tantalizing clues as to the molecular basis of this disease...
  3. ncbi request reprint The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG
    J P de Winter
    Department of Clinical Genetics and Human Genetics, Free University Medical Center, Van der Boechorststraat 7, NL 1081 BT Amsterdam, The Netherlands
    Hum Mol Genet 9:2665-74. 2000
    ..Our results, along with published data, culminate in a model in which a multi-protein FA complex serves a nuclear function to maintain genomic integrity...
  4. ncbi request reprint Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells
    Y Xie
    Department of Clinical Genetics and Human Genetics, Free University Medical Centre, Amsterdam, The Netherlands
    Br J Haematol 111:1057-64. 2000
    ..Our results suggest that a significant proportion of general AML is characterized by a disturbance of the 'FA pathway' that may represent an early event in the development of this type of leukaemia...
  5. ncbi request reprint Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
    Q Waisfisz
    Department of Clinical Genetics and Human Genetics, Free University, Amsterdam, The Netherlands
    Nat Genet 22:379-83. 1999
    ..Although in all three cases the predicted proteins were different from wild type, their cDNAs complemented the characteristic hypersensitivity of FA cells to crosslinking agents, thus establishing a functional correction to wild type...
  6. pmc Isolation of a cDNA representing the Fanconi anemia complementation group E gene
    J P de Winter
    Department of Clinical Genetics and Human Genetics, Free University Medical Center, NL 1081 BT Amsterdam, The Netherlands
    Am J Hum Genet 67:1306-8. 2000
    ..Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE). FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals...
  7. ncbi request reprint The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
    J P de Winter
    Department of Clinical Genetics, Free University, Amsterdam, The Netherlands
    Nat Genet 24:15-6. 2000
  8. pmc A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA
    Q Waisfisz
    Department of Clinical Genetics and Human Genetics, Free University, NL 1081 BT, Amsterdam, The Netherlands
    Proc Natl Acad Sci U S A 96:10320-5. 1999
    ..Disruption of the complex may provide an experimental strategy for chemosensitization of neoplastic cells...
  9. ncbi request reprint Mice with a targeted disruption of the Fanconi anemia homolog Fanca
    N C Cheng
    Department of Clinical Genetics and Human Genetics, Free University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands
    Hum Mol Genet 9:1805-11. 2000
    ..Furthermore, embryonic fibroblasts of the knock-out mice exhibited spontaneous chromosomal instability and were hyper-responsive to the clastogenic effect of the crosslinker mitomycin C...
  10. ncbi request reprint The Fanconi anaemia group G gene FANCG is identical with XRCC9
    J P de Winter
    Department of Human Genetics, Free University, Amsterdam, The Netherlands
    Nat Genet 20:281-3. 1998
    ..The gene is localized to chromosome band 9p13 (ref. 9), corresponding with a known localization of an FA gene...
  11. ncbi request reprint Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary
    H J van de Vrugt
    Department of Clinical Genetics and Human Genetics, Free University Medical Centre, Amsterdam, The Netherlands
    Mamm Genome 11:326-31. 2000
    ..This expression pattern correlates with some of the clinical symptoms observed in FA patients. The availability of the murine Fanca cDNA now allows the gene to be studied in experimental mouse models...
  12. pmc The Fanconi anemia group E gene, FANCE, maps to chromosome 6p
    Q Waisfisz
    Departments of Human Genetics, Free University, Amsterdam, Netherlands
    Am J Hum Genet 64:1400-5. 1999
    ..2-cM region flanked by markers D6S422 and D6S1610. This study shows that data from even a small number of families can be successfully used to map a gene for a genetically heterogeneous disorder...
  13. ncbi request reprint Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype
    H Joenje
    Department of Human Genetics, Free University, Amsterdam, The Netherlands
    Blood 86:2156-60. 1995
    ..These results imply that at least 5 genes appear to be involved in a pathway that, when defective, causes bone marrow failure in FA patients...
  14. ncbi request reprint Involvement of the Fanconi's anemia protein FAC in a pathway that signals to the cyclin B/cdc2 kinase
    F A Kruyt
    Department of Human Genetics, Free University, Amsterdam, The Netherlands
    Cancer Res 57:2244-51. 1997
    ....
  15. ncbi request reprint Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
    J R Lo ten Foe
    Department of Human Genetics, Free University, Amsterdam, The Netherlands
    Nat Genet 14:320-3. 1996
    ....
  16. ncbi request reprint Cytogenetic characteristics of oral squamous cell carcinomas in Fanconi anemia
    M A Hermsen
    Department of Pathology, Free University Medical Center, Amsterdam, The Netherlands
    Fam Cancer 1:39-43. 2001
    ....
  17. ncbi request reprint Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC
    J R Lo ten Foe
    Department of Human Genetics, Free University of Amsterdam, The Netherlands
    Hum Mutat 7:264-5. 1996
  18. ncbi request reprint Effect of antioxidants on hyperoxia-induced chromosomal breakage in Chinese hamster ovary cells: protection by carnosine
    J J Gille
    Institute of Human Genetics, Free University, Amsterdam, The Netherlands
    Mutagenesis 6:313-8. 1991
    ..e. they apparently potentiated the clastogenic effect of hyperoxia. Carnosine is the first compound shown to protect against the clastogenicity of normobaric hyperoxia and may thus be a useful tool in elucidating the underlying mechanism...
  19. ncbi request reprint Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia
    C J Hess
    Department of Hematology, VU University Medical Center, Amsterdam, The Netherlands
    Cell Oncol 30:299-306. 2008
    ..e. methylation of FANCF in cell line CHRF-288. We investigated the presence of aberrant methylation in 11 FA-BRCA genes in sporadic cases of leukaemia...
  20. ncbi request reprint Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p
    M Whitney
    Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA
    Nat Genet 11:341-3. 1995
    ..Here we report the successful use of this technique to map the gene for the rare FA complementation group D (FA(D))...
  21. ncbi request reprint Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity
    T Yamashita
    Division of Pediatric Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA
    Blood 87:4424-32. 1996
    ..In conclusion, expression of an amino terminal truncated FAC protein accounts, at least in part, for the clinical heterogeneity among FA(C) patients...
  22. pmc High frequency of large intragenic deletions in the Fanconi anemia group A gene
    N V Morgan
    Division of Medical and Molecular Genetics, GKT School of Medicine, Guy s Hospital, London, United Kingdom
    Am J Hum Genet 65:1330-41. 1999
    ..The dual screening strategy that we describe may be useful for mutation screening in other genetic disorders in which mutation-detection rates are unexpectedly low...
  23. ncbi request reprint Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient
    R D Wegner
    Institute of Human Genetics, Virchow Klinikum, Humboldt University, Berlin, Germany
    Clin Genet 50:479-82. 1996
    ..The findings in the patient, who is considered to be the standard for the fifth Fanconi anemia complementation group, are compared with data reported for other patients affected with Fanconi anemia...
  24. pmc The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation
    T Yamashita
    Institute of Medical Science, University of Tokyo, Tokyo 108, Japan
    Proc Natl Acad Sci U S A 95:13085-90. 1998
    ..These biochemical events seem to define a signaling pathway required for the maintenance of genomic stability and normal hematopoiesis. Our results support the idea that multiple gene products cooperate in the FA Pathway...
  25. pmc Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A
    H Joenje
    Department of Clinical Genetics and Human Genetics, Free University Medical Center, NL 1081 BT Amsterdam, The Netherlands h joenje
    Am J Hum Genet 67:759-62. 2000
    ..On the basis of these criteria, the current number of complementation groups in FA is seven...
  26. ncbi request reprint Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9
    I Demuth
    Institute of Human Genetics, Charite, Campus Virchow, Humboldt University, Berlin, Germany
    Eur J Hum Genet 8:861-8. 2000
    ..A putative missense mutation, L71P, in a possible leucine zipper motif may affect FANCG binding of FANCA and seems to be associated with a milder clinical phenotype...
  27. pmc Mutations of the Fanconi anemia group A gene (FAA) in Italian patients
    M Savino
    Servizio di Genetica Medica, IRCCS Ospedale CSS, Foggia, Italy
    Am J Hum Genet 61:1246-53. 1997
    ....
  28. ncbi request reprint Correction of cross-linker sensitivity of Fanconi anemia group F cells by CD33-mediated protein transfer
    R K Holmes
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Blood 98:3817-22. 2001
    ..These results demonstrate that antibody-directed, receptor-mediated protein transfer is a versatile method for the delivery of biologically active proteins into hematopoietic cells...
  29. ncbi request reprint [From gene to disease: Fanconi anemia]
    C M Zwaan
    Afd Kinderhematologie oncologie, VU Medisch Centrum, De Boelelaan 1117, 1081 HV Amsterdam
    Ned Tijdschr Geneeskd 147:342-4. 2003
    ..FA genes encode proteins that control a molecular pathway which ensures an adequate defence against certain types of genomic instability and the associated risk of developing cancer. DNA diagnostics is possible...
  30. ncbi request reprint Apparent absence of BRCA2 protein in a proportion of acute myeloid leukemia cell lines
    F Chen
    Leukemia 18:1918-20. 2004
  31. pmc Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa
    A J Tipping
    Division of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London Bridge, London SE1 9RT, United Kingdom
    Proc Natl Acad Sci U S A 98:5734-9. 2001
    ..The molecular and genealogical evidence is consistent with transmission of the major mutation to Western Germany and the Cape near the end of the 17th century, confirming the existence of a founder effect for FA in South Africa...