P S Rowe
Affiliation: University College London
- MEPE, a new gene expressed in bone marrow and tumors causing osteomalaciaP S Rowe
Centre for Molecular Osteo Renal Research, Department of Biochemistry and Molecular Biology, Royal Free and University College Medical School, Hampstead, London, United Kingdom
Genomics 67:54-68. 2000..Evidence is also presented for the tumor secretion of clusterin (HGMW-approved symbol CLU) and its possible role as a cytotoxic factor in one of the OHO patients described...
- The role of the PHEX gene (PEX) in families with X-linked hypophosphataemic ricketsP S Rowe
University of London, Royal Free Hospital School of Medicine, Department of Biochemistry and Molecular Biology, Hampstead, UK
Curr Opin Nephrol Hypertens 7:367-76. 1998..The fact that the PHEX gene codes for a Zn metallopeptidase raises new and intriguing questions, and adds new momentum to the research on diseases of bone mineral metabolism...
- Mapping of human non-muscle type cofilin (CFL1) to chromosome 11q13 and muscle-type cofilin (CFL2) to chromosome 14G T Gillett
MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London
Ann Hum Genet 60:201-11. 1996..We have identified human muscle-type cofilin sequences by comparison of human expressed sequence tags with M-type cofilins of other species and we have mapped the human M-type cofilin, CFL2, to chromosome 14...
- Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)P S Rowe
Department of Medicine, University College London, Middlesex Hospital, UK
Hum Mol Genet 6:539-49. 1997..The wide range of mutations that align with regions required for protease activity in NEP suggests that PEX also functions as a protease, and may act by processing factor(s) involved in bone mineral metabolism...
- Fine structure mapping of the human X-linked hypophosphatemic rickets gene locusM J Econs
Department of Medicine, Sarah W Stedman Center for Nutritional Studies, Duke University Medical Center, Durham, North Carolina 27710
J Clin Endocrinol Metab 79:1351-4. 1994..The HYP gene is located in the 350- to 650-kilobase region between DXS365 and DXS1683. These results will provide a basis for the isolation of candidate genes from the region...
- Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2)P S Rowe
Middlesex Hospital, London, UK
Hum Genet 93:291-4. 1994..Combining the genetic and physical data, we are able to propose the following gene marker order: Xptel-DXS43-DXS197-DXS999-DXS443-[(DXS3 65-AFM163yh2), HYP]-DXS274-DXS41-Xcen...
- Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic ricketsF Francis
, Berlin, Germany
Genome Res 7:573-85. 1997
- A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic ricketsM J Econs
Department of Medicine, Indiana University, Indianapolis 46202, USA
J Clin Endocrinol Metab 83:3459-62. 1998....