Genomes and Genes
Affiliation: University of Iowa
- Howe J, Bair J, Sayed M, Anderson M, Mitros F, Petersen G, et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet. 2001;28:184-7 pubmed..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. ..
- Howe J, Shellnut J, Wagner B, Ringold J, Sayed M, Ahmed A, et al. Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot. Am J Hum Genet. 2002;70:1357-62 pubmed
- Howe J, Sayed M, Ahmed A, Ringold J, Larsen Haidle J, Merg A, et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004;41:484-91 pubmed..Since mutations were not found in more than half the JP patients, either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases. ..
- Howe J, Chinnathambi S, Calva D, Bair J, Pechman B, Salamon A, et al. A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. Cancer Genet Cytogenet. 2008;181:52-4 pubmed publisher..This mutation caused protein truncation, and represents a novel case of consecutive nonsense mutations in human disease. ..
- Sherman S, Maxwell J, Carr J, Wang D, O DORISIO M, O Dorisio T, et al. GIPR expression in gastric and duodenal neuroendocrine tumors. J Surg Res. 2014;190:587-93 pubmed publisher..1 versus 3.5-fold overexpression). We conclude that GIPR could provide an improved signal-to-noise ratio for imaging versus SSTR2 and represents a promising novel therapeutic target in GDNETs. ..
- Keck K, Breheny P, Braun T, Darbro B, Li G, Dillon J, et al. Changes in gene expression in small bowel neuroendocrine tumors associated with progression to metastases. Surgery. 2018;163:232-239 pubmed publisher..Differential expression of various genes, including PMP22, SYT13 and SERPINA10, are associated with the progression of SBNETs and warrant further investigation. ..
- Keck K, Maxwell J, Menda Y, Bellizzi A, DILLON J, O Dorisio T, et al. Identification of primary tumors in patients presenting with metastatic gastroenteropancreatic neuroendocrine tumors. Surgery. 2017;161:272-279 pubmed publisher..Preoperative testing facilitated operative planning, allowing for resection of the primary and hepatic debulking in most patients. ..