Genomes and Genes
Affiliation: University of Iowa
- Discovery of SMAD4 promoters, transcription factor binding sites and deletions in juvenile polyposis patientsDaniel Calva
Department of Surgery, Carver College of Medicine, University of Iowa Hospitals and Clinics, Iowa City, 52242 1086 IA, USA
Nucleic Acids Res 39:5369-78. 2011..The elucidation of these promoters and identification of TFBS has important implications for future studies in sporadic tumors from multiple sites, and in JP patients...
- BMPR1A mutations in juvenile polyposis affect cellular localizationJames R Howe
Division of Surgical Oncology and Endocrine Surgery, Department of Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa Electronic address
J Surg Res 184:739-45. 2013..Mutations in the bone morphogenetic protein receptor type 1A (BMPR1A) are known to predispose to JP. We set out to study the effect of such missense mutations on BMPR1A cellular localization...
- A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposisJames R Howe
Department of Surgery, University of Iowa Carver College of Medicine, 4644 JCP, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242 1086, USA
Cancer Genet Cytogenet 181:52-4. 2008..This mutation caused protein truncation, and represents a novel case of consecutive nonsense mutations in human disease...
- A gene for familial juvenile polyposis maps to chromosome 18q21.1J R Howe
Department of Surgery, University of Iowa College of Medicine, Iowa City, Iowa 52242 1086, USA
Am J Hum Genet 62:1129-36. 1998..These data demonstrate localization of a gene for FJP to chromosome 18q21.1 by linkage, and they raise the possibility that either DCC or DPC4 could be responsible for FJP...
- The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutationsJ R Howe
Department of Surgery, University of Iowa College of Medicine, Iowa City, IA 52242 1086, USA
J Med Genet 41:484-91. 2004..This study determined the prevalence of mutations in MADH4 and BMPR1A, as well as three other BMP/activin pathway candidate genes in a large number of JP patients...
- Common deletion of SMAD4 in juvenile polyposis is a mutational hotspotJames R Howe
Department of Surgery, University of Iowa College of Medicine, Iowa City, IA 52242 1086, USA
Am J Hum Genet 70:1357-62. 2002....
- Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposisJ R Howe
Department of Surgery, University of Iowa College of Medicine, Iowa City, Iowa, USA
Nat Genet 28:184-7. 2001..These findings indicate involvement of an additional gene in the transforming growth factor-beta (TGF-beta) superfamily in the genesis of JP, and document an unanticipated function for BMP in colonic epithelial growth control...
- Minimally invasive parathyroid surgeryJ R Howe
Department of Surgery, University of Iowa Health Care, Iowa City 52242, USA
Surg Clin North Am 80:1399-426. 2000..Results of minimally invasive techniques, including radio-guided parathyroidectomy, endoscopic parathyroidectomy, and outpatient parathyroidectomy, also are presented...
- Small bowel sarcoma: analysis of survival from the National Cancer Data BaseJ R Howe
Department of Surgery, University of Iowa College of Medicine, Iowa City 52242, USA
Ann Surg Oncol 8:496-508. 2001..The objective of this study was to examine patient and tumor factors in SBS and to determine prognostic factors for disease-specific survival (DSS) using the National Cancer Data Base...
- Mutations in the SMAD4/DPC4 gene in juvenile polyposisJ R Howe
Department of Surgery, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Science 280:1086-8. 1998..The mutant SMAD4 proteins are predicted to be truncated at the carboxyl-terminus and lack sequences required for normal function. These results confirm an important role for SMAD4 in the development of gastrointestinal tumors...
- Differences in the pattern of presentation and treatment of proximal and distal gastric cancer: results of the 2001 gastric patient care evaluationNeal W Wilkinson
Division of Surgical Oncology, University of Iowa College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242, USA
Ann Surg Oncol 15:1644-50. 2008..The purpose of this analysis was to highlight key differences between proximal and distal gastric cancer as they relate to presentation and treatment...
- Development of a highly sensitive and specific carboxy-terminal human pancreastatin assay to monitor neuroendocrine tumor behaviorThomas M O'Dorisio
Department of Internal Medicine, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
Pancreas 39:611-6. 2010..Existing pancreastatin assays, which depend on antibodies that cross-react in varying percents with the larger prohormone, may lack sensitivity and specificity to detect small changes in neuroendocrine tumor volume...
- ECM1 expression in thyroid tumors--a comparison of real-time RT-PCR and IHCGeeta Lal
Department of Surgery, Section of Surgical Oncology and Endocrine Surgery University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
J Surg Res 149:62-8. 2008..The purpose of the current study is to evaluate and compare ECM1 expression by real-time RT-PCR with immunohistochemistry (IHC) as diagnostic aids in thyroid neoplasms...
- Determinants of survival in patients with calciphylaxis: a multivariate analysisGeeta Lal
Department of Surgery, University of Iowa Hospitals, Iowa City, IA 52242, USA
Surgery 146:1028-34. 2009..Our study aims to assess the factors affecting survival in patients with calciphylaxis...
- PET-CT scans in recurrent or persistent differentiated thyroid cancer: is there added utility beyond conventional imaging?Geeta Lal
Department of Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Surgery 148:1082-9; discussion 1089-90. 2010..Integrated positron emission tomography (PET)-computed tomography (CT) may have advantages over conventional imaging in localizing recurrent or persistent differentiated thyroid cancer...
- Genetic conditions associated with intestinal juvenile polypsAnders Merg
Surgical Oncology and Endocrine Surgery, Department of Surgery, Roy J and Lucille A Carver Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA
Am J Med Genet C Semin Med Genet 129:44-55. 2004..Mutations of the tumor suppressor gene PTEN have been found in the germline of both CS and BRRS patients. Despite different underlying genetic mechanisms, these and other syndromes share the same phenotypic feature of juvenile polyps...
- When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation?Daniel Calva
Department of Surgery, Division of Surgical Oncology and Endocrine Surgery, University of Iowa College of Medicine, Iowa City, IA, USA
Ann Surg Oncol 16:2237-44. 2009..We report a three-generation family with C609Y RET mutation where members having prophylactic or therapeutic thyroidectomy call the current recommendations for age at thyroidectomy into question...
- Minimally invasive parathyroidectomy and preoperative MIBI scans: correlation of gland weight and preoperative PTHDaniel Calva-Cerqueira
Department of Surgery, University of Iowa Carver College of Medicine, IA, USA
J Am Coll Surg 205:S38-44. 2007..This strategy depends on preoperative localization tests, of which the MIBI scan is the most commonly used. This study details one surgeon's MIP experience and examines factors that correlate with the results of sestamibi (MIBI) scans...
- Altered expression of iron regulatory genes in cirrhotic human livers: clues to the cause of hemosiderosis?Ottar M Bergmann
Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
Lab Invest 88:1349-57. 2008..However, there are complex alterations in DMT1 and ferroportin expression in cirrhotic liver, including decreases in ferroportin and DMT1 at the protein level that may play a role in aberrant regulation of iron metabolism in cirrhosis...
- RIZ1 is epigenetically inactivated by promoter hypermethylation in thyroid carcinomaGeeta Lal
Department of Surgery, Division of Surgical Oncology, University of Iowa, Iowa City, Iowa, USA
Cancer 107:2752-9. 2006..RIZ1 expression is lost in a variety of tumors, primarily by means of epigenetic mechanisms that involve promoter hypermethylation...
- Role for limited neck exploration in young adults with apparently sporadic primary hyperparathyroidismLaura A Adam
Department of Surgery, Division of Surgical Oncology and Endocrine Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
World J Surg 32:1518-24. 2008..We hypothesized that young adults (ages 16-40 years) without familial PHPT have a disease process similar to that in older patients...
- Role of the DPC4 tumor suppressor gene in adenocarcinoma of the ampulla of Vater: analysis of 140 casesDenis M McCarthy
Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Mod Pathol 16:272-8. 2003..Although ampullary and pancreatic adenocarcinomas share histologic and molecular features, ampullary carcinomas are less likely to show loss of Dpc4 expression or K-ras gene mutations...
- Hamartomatous polyposis syndromesDaniel Calva
University of Iowa, Roy J and Lucille A Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242 2600, USA
Surg Clin North Am 88:779-817, vii. 2008..Although the incidence of these syndromes is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in patients at risk...
- A new way to rapidly create functional, fluorescent fusion proteins: random insertion of GFP with an in vitro transposition reactionDouglas L Sheridan
Department of Cellular and Molecular Physiology, Yale University Medical School, 330 Cedar St, New Haven, CT 06520, USA
BMC Neurosci 3:7. 2002..Finding permissive sites for insertion, however, can be difficult. Here we describe a transposon-based approach for rapidly creating libraries of GFP fusion proteins...
- Hereditary colorectal cancer-part IIAnders Merg
Roswell Park Cancer Institute, Buffalo, New York, USA
Curr Probl Surg 42:267-333. 2005
- Hereditary colon cancer--part IAnders Merg
Roswell Park Cancer Center, Buffalo, New York, USA
Curr Probl Surg 42:195-256. 2005
- Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concernsHenry T Lynch
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, NE 68178, USA
Cancer Genet Cytogenet 148:104-17. 2004....
- Desensitization at the interfaceJames R Howe
Department of Pharmacology, Yale University School of Medicine, SHM B 251, 333 Cedar Street, New Haven, Connecticut 06520, USA
ACS Chem Biol 1:623-6. 2006..Recent structural data have begun to provide important insights into the molecular mechanisms that underlie channel activation and desensitization...
- The Molecular Basis of Juvenile PolyposisJames Howe; Fiscal Year: 2005..These studies will also benefit JP patients by improving presymptomatic genetic testing, and identification of new therapeutic targets for polyp regression and cancer prevention in JP. ..
- Regulation of SMAD4 and BMPR1A Expression in Juvenile PolyposisJames R Howe; Fiscal Year: 2010..abstract_text> ..