Research Topics
Genomes and Genes | B E BaysalSummaryAffiliation: University of Pittsburgh Country: USA Publications
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Publications
Genomic organization and precise physical location of protein phosphatase 2A regulatory subunit A beta isoform gene on chromosome band 11q23B E Baysal
Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA
Gene 217:107-16. 1998..In conclusion, we precisely mapped and characterized the structure of PPP2R1B and evaluated it as a candidate gene for PGL1...
Repositioning the hereditary paraganglioma critical region on chromosome band 11q23B E Baysal
Department of Psychiatry, Western Psychiatric Institute and Clinic, University of Pittsburgh Medical Center, PA 15213 2593, USA
Hum Genet 104:219-25. 1999..Thus, we confined PGL1 to an approximately 1.5 Mb region between D11S1986 and D11S1347, and showed identity-by-descent sharing for a group of American PGL families...
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomasB E Baysal
Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA
J Med Genet 39:178-83. 2002..Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL)...
A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor regionB E Baysal
Department of Psychiatry, The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
Eur J Hum Genet 9:121-9. 2001..This map will help assess this gene-rich region in PGL and in other common tumours...
Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23B E Baysal
Department of Human Genetics, The University of Pittsburgh Medical Center, PA 15213 2593, USA
Am J Hum Genet 60:121-32. 1997..42, P > .2). Whether these data represent genetic anticipation or ascertainment bias can be addressed only by analysis of a larger number of father-child pairs...
A high-resolution STS, EST, and gene-based physical map of the hereditary paraganglioma region on chromosome 11q23B E Baysal
Department of Human Genetics, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA
Genomics 44:214-21. 1997..Finally, we identified a common, silent, single-base substitution polymorphism in the 5HT3R gene and characterized the allele sets of two new highly polymorphic microsatellite repeats within the PGL1 critical region...
Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocationJ E Willett-Brozick
Department of Psychiatry, The University of Pittsburgh School of Medicine, 3811 O'Hara Street R1445, Pittsburgh, PA 15213, USA
Hum Genet 109:216-23. 2001..Our findings also provide evidence for a previously unrecognized insertional mechanism in human, by which non-mobile extra-chromosomal fragments can be inserted into the genome at DSB repair junctions...
Phenotypic dichotomy in mitochondrial complex II genetic disordersB E Baysal
Department of Psychiatry, University of Pittsburgh Medical Center, 3811 O Hara Street R1445, Pittsburgh, PA 15213, USA
J Mol Med (Berl) 79:495-503. 2001..The phenotypic features of complex II gene mutations suggest that whereas the catalytic subunit SDHA mutations may compromise the Krebs cycle, those in other structural subunits may affect oxygen sensing and signaling...
Hereditary paraganglioma targets diverse paragangliaB E Baysal
Department of Psychiatry, The University of Pittsburgh Medical Center, 3811 O Hara Street R1445, Pittsburgh, PA, 15213, USA
J Med Genet 39:617-22. 2002..This short review attempts to bring together relevant genetic data on paragangliomas with a particular emphasis on head and neck paragangliomas and phaeochromocytomas...
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paragangliomaB E Baysal
Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213 2593, USA
Science 287:848-51. 2000..These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology...
Genetics of familial paragangliomas: past, present, and futureB E Baysal
Department of Psychiatry, Otolaryngology, and Human Genetics, University of Pittsburgh School of Medicine, and Western Psychiatric Institute and Clinics, Pittsburgh, Pennsylvania 15213 2593, USA
Otolaryngol Clin North Am 34:863-79, vi. 2001..Finally, future directions stemming from the PGL gene discovery are described...
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD geneP E Taschner
Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Genes Chromosomes Cancer 31:274-81. 2001..In addition, we demonstrate that the maternally derived wild-type SDHD allele is lost in tumors from mutation-carrying patients, indicating that SDHD functions as a tumor suppressor gene...
Genomic structure of the human PLZF geneE M van Schothorst
Department of Human Genetics, Leiden University Medical Centre, Sylvius Laboratorium, Wassenaarsweg 72, 2333 AL, Leiden, The Netherlands
Gene 236:21-4. 1999..Here we have tested hPLZF as a possible candidate for the PGL1 locus involved in hereditary head and neck paragangliomas. However, mutation analysis revealed no aberration in 12 paraganglioma patients from different families...
An Alu-mediated partial SDHC deletion causes familial and sporadic paragangliomaB E Baysal
J Med Genet 41:703-9. 2004
