Research Topics
Genomes and Genes | J HendrickxSummaryAffiliation: University of Antwerp Country: Belgium Publications
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Publications
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and IIJ Hendrickx
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Am J Hum Genet 64:1541-9. 1999....
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene familyW Van Hul
Department of Medical Genetics, University of Antwerp, Belgium
Genomics 47:230-7. 1998..In view of its putative tumor suppressor function, the EXTL3 gene can be considered a candidate gene for the breast cancer locus on chromosome 8p12-p22...
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinaseJ Hendrickx
Department of Medical Genetics, University of Antwerp UIA, Belgium
Hum Mol Genet 5:649-52. 1996..These findings might explain why the in vitro PHK enzymatic activity is not deficient in XLG II, whereas it is in XLG I...
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostosesW Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Am J Hum Genet 62:346-54. 1998..The development is thus mainly due to loss of function of the EXT genes, consistent with the hypothesis that the EXT genes have a tumor- suppressor function...
Identification and characterization of a novel member of the EXT gene family, EXTL2W Wuyts
Department of Medical Genetics, University of Antwerp, Belgium
Eur J Hum Genet 5:382-9. 1997..In addition, a putative pseudogene, EXTL2P was also identified. The EXTL2 gene was assigned to chromosome 1p11-p12, whereas EXTL2P was mapped on chromosome 2q24-q31...
X-linked liver glycogenosis: localization and isolation of a candidate geneJ Hendrickx
Department of Medical Genetics, University of Antwerp UIA, Belgium
Hum Mol Genet 2:583-9. 1993..Fluorescent in situ hybridization mapped human PHKA2 to Xp22. As this physical mapping coincides with the genetic mapping of XLG by linkage analysis, PHKA2 most probably harbours the mutation(s) responsible for XLG...
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage diseaseJ Hendrickx
Department of Medical Genetics, University of Antwerp, Belgium
Hum Mol Genet 4:77-83. 1995..These findings indicate that PHKA2 is the XLG I gene...
Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 yearsJ Hendrickx
Department of Medical Genetics, University of Antwerp, Belgium
Eur J Pediatr 157:919-23. 1998..In patients with XLG having normal or residual PHK activity where XLG II is suspected, the identification of mutations in PHKA2 leads to the final classification...
Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Hum Mol Genet 5:1547-57. 1996..EXT2 has an open reading frame encoding 718 amino acids with an overall homology of 30.9% with EXT1, suggesting that a family of related genes might be responsible for the development of EXT...
Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome XpJ G Wauters
Department of Medical Genetics, University of Antwerp U I A, Belgium
Cytogenet Cell Genet 60:194-6. 1992..The localization of this gene in the same chromosomal region as the disease gene responsible for XLG suggests that the liver PHKA gene is a highly likely candidate gene for the XLG mutation...
A point mutation in the FMR-1 gene associated with fragile X mental retardationK De Boulle
Department of Medical Genetics, University of Antwerp UIA, Belgium
Nat Genet 3:31-5. 1993..Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA...
Distribution and role of Na(+)/K(+) ATPase in endocardial endotheliumP Fransen
Department of Physiology and Medicine, University of Antwerp RUCA, Groenenborgerlaan, 171, B 2020, Antwerp, Belgium
Cardiovasc Res 52:487-99. 2001..In mammalian cardiomyocytes, alpha isoforms of Na(+)/K(+) ATPase have specific localisation and function, but their role in endocardial endothelium is unknown...
Mapping of a liver phosphorylase kinase alpha-subunit gene on the mouse X chromosomeY Geng
MRC Molecular Neurobiology Unit, MRC Centre, Cambridge, United Kingdom
Genomics 15:191-3. 1993..This mapping position would suggest a location for the human liver alpha-subunit gene on the proximal short arm of the X chromosome, a region recently implicated in X-linked liver glycogenosis (XLG)...
Location of the hydroxyl functions in hydroxylated metabolites of nebivolol in different animal species and human subjects as determined by on-line high-performance liquid chromatography-diode-array detectionJ Hendrickx
Department of Drug Metabolism and Pharmacokinetics, Janssen Research Foundation, Beerse, Belgium
J Chromatogr A 729:341-54. 1996..With this technique it is possible to differentiate between glucuronidation at the automatic and aliphatic or alicyclic hydroxyl functions...
