Research Topics
Genomes and Genes | B E BaysalSummaryAffiliation: University of Pittsburgh Country: USA Publications
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Detail Information
Publications
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B geneAbbie L Young
Genetic Counseling Program, University of Minnesota, Minneapolis, Minnesota 55455, USA
J Clin Endocrinol Metab 87:4101-5. 2002..Our findings indicate that mutations in SDHB may be associated with metastatic, yet clinically indolent, abdominal paraganglioma in some families...- Genomic imprinting and environment in hereditary paragangliomaBora E Baysal
Magee Women s Research Institute and Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, 204 Craft Avenue, R332B, Pittsburgh, PA 15213, USA
Am J Med Genet C Semin Med Genet 129:85-90. 2004.... - Etiopathogenesis and clinical presentation of carotid body tumorsBora E Baysal
Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA
Microsc Res Tech 59:256-61. 2002..Although CBTs are rare, they have the potential to provide unique insights for tumorigenesis and oxygen sensing and signaling mechanisms... - 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... - 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... - A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small familyBora E Baysal
Department of Psychiatry, The University of Pittsburgh Medical Center, Pennsylvania, USA
Neurogenetics 4:43-53. 2002..In conclusion, we found that a mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint co-segregating with BPAD in a family. However, its role in the disease susceptibility remains unconfirmed... - 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... - 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... 
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...- 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)... - 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... - 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... - 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... - 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... - Proportion of heritable paraganglioma cases and associated clinical characteristicsC M Drovdlic
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, PA, USA
Laryngoscope 111:1822-7. 2001..To determine the heritable proportion of paraganglioma (PGL) and identify clinical features associated with heritable PGL... - 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... - Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHABora E Baysal
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
BMC Biol 5:12. 2007..In contrast, heterozygous mutations in SDHB, SDHC, and SDHD, the other SDH subunit genes, cause hereditary paraganglioma (PGL) tumors, which show constitutive activation of pathways induced by oxygen deprivation (hypoxia)... - Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defectKristin Astrom
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
Hum Genet 113:228-37. 2003..Collectively, these data suggest that higher altitudes and nonsense/splicing mutations are associated with phenotypic severity in PGL1 and support the hypothesis that SDHD mutations impair oxygen sensing... - On the association of succinate dehydrogenase mutations with hereditary paragangliomaBora E Baysal
Magee Women s Research Institute, R330, 204 Craft Ave, Pittsburgh, PA 15213, USA
Trends Endocrinol Metab 14:453-9. 2003..Whereas SDH might be involved in hypoxic proliferation of paraganglia, FH might play an important role in the regulation of ammonium metabolism in smooth muscle cells... - A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemiaBora E Baysal
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
PLoS ONE 2:e436. 2007..Germ line mutations in the SDHB, SDHC or SDHD genes cause hereditary paraganglioma (PGL) tumors which show constitutive activation of homeostatic mechanisms induced by oxygen deprivation (hypoxia)... - Coordinate up-regulation of TMEM97 and cholesterol biosynthesis genes in normal ovarian surface epithelial cells treated with progesterone: implications for pathogenesis of ovarian cancerCathy B Wilcox
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
BMC Cancer 7:223. 2007..Several lines of evidence strongly suggest that increased exposure to progesterone (P4) protects women against developing OvCa. However, the underlying mechanisms of this protection are incompletely understood... - A phenotypic perspective on Mammalian oxygen sensor candidatesBora E Baysal
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
Ann N Y Acad Sci 1073:221-33. 2006..It is suggested that a universal oxygen sensor candidate must be supported by evidence from multiple layers of biological complexity... 
Relationship between ERCC1 polymorphisms, disease progression, and survival in the Gynecologic Oncology Group Phase III Trial of intraperitoneal versus intravenous cisplatin and paclitaxel for stage III epithelial ovarian cancerThomas C Krivak
University of Pittsburgh Magee Women s Hospital Precision Therapeutics PTI, Pittsburgh, PA 15213, USA
J Clin Oncol 26:3598-606. 2008....- Analysis of CHEK2 gene for ovarian cancer susceptibilityBora E Baysal
Department of Obstetrics, Gynecology and Reproductive Sciences, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA
Gynecol Oncol 95:62-9. 2004..A deletion variant in the CHEK2 gene (del1100C) has been implicated as a low-penetrance risk factor for breast cancer. We sought to determine contribution of CHEK2 mutations to the etiology of ovarian cancer (OvCa)... - Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC geneFrancesca Schiavi
Department of Endocrinology, University of Padova, Padova, Italy
JAMA 294:2057-63. 2005..Head and neck paragangliomas associated with SDHC mutations are virtually exclusively benign and seldom multifocal. Analysis for germline mutations of SDHC is recommended in apparently sporadic HNP to identify risk of inheritance... - Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumorsLudmila Matyakhina
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 92:2938-43. 2007.... - Role of mitochondrial mutations in cancerBora E Baysal
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Graduate School of Public Health Department of Human Genetics, Magee Womens Research Institute, Pittsburgh, PA 15213, USA
Endocr Pathol 17:203-12. 2006..Thus, either the majority of diverse mtDNA mutations observed in tumors are not important for the process of carcinogenesis or that they play a common oncogenic role... - Loss of distal 11q is associated with DNA repair deficiency and reduced sensitivity to ionizing radiation in head and neck squamous cell carcinomaRahul A Parikh
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA
Genes Chromosomes Cancer 46:761-75. 2007..Although the literature attributes the poor prognosis in HNSCC to 11q13 gene amplification, our results suggest that distal 11q deletions may be an equally significant factor... - High-resolution methylation analysis of the BRCA1 promoter in ovarian tumorsCathy B Wilcox
Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, Lab 420, 204 Craft Avenue, Pittsburgh, PA 15213, USA
Cancer Genet Cytogenet 159:114-22. 2005..This finding could be exploited in the design of highly sensitive MS-PCR assays for direct assessment of tumor DNA and potentially for early detection of ovarian cancer in body fluids...