M A Weterman

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. doi request reprint Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
    Marian A J Weterman
    Department of Genome Analysis k2 213, Academic Medical Centre Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Brain 136:282-93. 2013
  2. pmc A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
    Marian A J Weterman
    Department of Genome Analysis AMC, Amsterdam, The Netherlands
    Hum Mol Genet 21:358-70. 2012
  3. pmc Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease
    Marian A J Weterman
    Neurogenetics Lab, Department of Neurogenetics K2 213, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Eur J Hum Genet 18:421-8. 2010
  4. ncbi request reprint Genomic structure, chromosomal localization, and embryonic expression of the mouse homolog of PRCC, a gene associated with papillary renal cell carcinoma
    M A Weterman
    Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands
    Cytogenet Cell Genet 92:326-32. 2001
  5. pmc Impairment of MAD2B-PRCC interaction in mitotic checkpoint defective t(X;1)-positive renal cell carcinomas
    M A Weterman
    Department of Human Genetics, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 98:13808-13. 2001
  6. ncbi request reprint Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFE3PRCC fusion genes
    M A Weterman
    Department of Human Genetics, University Medical Center Nijmegen, The Netherlands
    Oncogene 20:1414-24. 2001
  7. pmc Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas
    M A Weterman
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 93:15294-8. 1996
  8. pmc An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation
    D Bodmer
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 62:1475-83. 1998
  9. ncbi request reprint Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15)
    M J Eleveld
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, Netherlands
    Genes Chromosomes Cancer 31:23-32. 2001
  10. ncbi request reprint Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas
    P Heimann
    Department of Medical Genetics and Institute of Interdisciplinary Research, Faculty of Medicine, Free University of Brussels, 1070 Brussels, Belgium
    Cancer Res 61:4130-5. 2001

Collaborators

Detail Information

Publications13

  1. doi request reprint Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
    Marian A J Weterman
    Department of Genome Analysis k2 213, Academic Medical Centre Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Brain 136:282-93. 2013
    ..We propose 'light chain myopathy' as a name for this MYL2-associated myopathy...
  2. pmc A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
    Marian A J Weterman
    Department of Genome Analysis AMC, Amsterdam, The Netherlands
    Hum Mol Genet 21:358-70. 2012
    ..Our data strongly support the hypothesis that LRSAM1 mutations can cause both dominant and recessive forms of CMT...
  3. pmc Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease
    Marian A J Weterman
    Neurogenetics Lab, Department of Neurogenetics K2 213, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Eur J Hum Genet 18:421-8. 2010
    ..A possible association of this duplication with a mutation in the PMP22 coding regions was also excluded. We suggest that this CNV proximal of the PMP22 gene leads to CMT through an unknown mechanism affecting PMP22 expression...
  4. ncbi request reprint Genomic structure, chromosomal localization, and embryonic expression of the mouse homolog of PRCC, a gene associated with papillary renal cell carcinoma
    M A Weterman
    Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands
    Cytogenet Cell Genet 92:326-32. 2001
    ..In mouse, Prcc is located on chromosome 3. These cDNA and genomic clones will be instrumental in the creation of mouse models for a further elucidation of the function of PRCC...
  5. pmc Impairment of MAD2B-PRCC interaction in mitotic checkpoint defective t(X;1)-positive renal cell carcinomas
    M A Weterman
    Department of Human Genetics, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 98:13808-13. 2001
    ..Our results suggest a dominant-negative effect of the PRCCTFE3 fusion gene leading to a mitotic checkpoint defect as an early event in papillary RCCs...
  6. ncbi request reprint Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFE3PRCC fusion genes
    M A Weterman
    Department of Human Genetics, University Medical Center Nijmegen, The Netherlands
    Oncogene 20:1414-24. 2001
    ..Therefore, we conclude that PRCCTFE3 may be the t(X;1)-associated fusion product that is most critical for the development of papillary renal cell carcinomas...
  7. pmc Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas
    M A Weterman
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 93:15294-8. 1996
    ..No relevant homologies with known sequences at either the DNA or the protein level were found...
  8. pmc An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation
    D Bodmer
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 62:1475-83. 1998
    ..The risk of developing renal cell cancer may be correlated directly with the extent of somatic (kidney) mosaicism resulting from this loss...
  9. ncbi request reprint Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15)
    M J Eleveld
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, Netherlands
    Genes Chromosomes Cancer 31:23-32. 2001
    ..Moreover, preliminary data suggest that other (epi)genetic changes may be related to tumour initiation...
  10. ncbi request reprint Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas
    P Heimann
    Department of Medical Genetics and Institute of Interdisciplinary Research, Faculty of Medicine, Free University of Brussels, 1070 Brussels, Belgium
    Cancer Res 61:4130-5. 2001
    ..No significant similarity was found with other fusion partners of TFE3 or with any relevant functional protein domains, precluding informed speculation about the normal function of this gene...
  11. ncbi request reprint Expression of nma, a novel gene, inversely correlates with the metastatic potential of human melanoma cell lines and xenografts
    W G Degen
    Department of Biochemistry, University of Nijmegen, The Netherlands
    Int J Cancer 65:460-5. 1996
    ..Whereas nma is not expressed in normal skin tissue, expression is high in melanocytes and in 3 out of 11 melanoma metastases tested...
  12. ncbi request reprint Thymosin beta-10 expression in melanoma cell lines and melanocytic lesions: a new progression marker for human cutaneous melanoma
    M A Weterman
    Department of Biochemistry, University of Nijmegen, The Netherlands
    Int J Cancer 53:278-84. 1993
    ..Therefore, we conclude that thymosin beta-10 can be considered as a new progression marker for human cutaneous melanoma...
  13. ncbi request reprint nmb, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts
    M A Weterman
    Department of Biochemistry, University of Nijmegen, The Netherlands
    Int J Cancer 60:73-81. 1995
    ....