Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

Autor: David A. Margolis, Michael Tschannen, Daniel Helbling, John M. Routes, Ulrich Broeckel, Marjorie J. Arca, Monica J Basehore, David P. Bick, Elizabeth A. Worthey, Aoy Tomita-Mitchell, Benedetta Bonacci, Alan N. Mayer, Grant Syverson, Jaime M Serpe, Trivikram Dasu, Regan Veith, David Dimmock, Brennan Decker, Martin J. Hessner, James T. Casper, Howard J. Jacob, James W. Verbsky

Publikováno v: Genetics in Medicine. 13:255-262

Purpose: We report a male child who presented at 15 months with perianal abscesses and proctitis, progressing to transmural pancolitis with colocutaneous fistulae, consistent with a Crohn disease-like illness. The age and severity of the presentation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19e9f6d230b8a2f07680c5486233cf5
https://doi.org/10.1097/gim.0b013e3182088158

The Protective Role of Intestinal Alkaline Phosphatase in Necrotizing Enterocolitis

Autor: Keith T. Oldham, Alan N. Mayer, Jill S. Whitehouse, Kevin M. Riggle, David P. Purpi, David M. Gourlay, Kirkwood A. Pritchard

Publikováno v: Journal of Surgical Research. 163:79-85

Background. Enterocytes produce intestinal alkaline phosphatase (iAP), which detoxifies lipopolysaccharide (LPS), a mediator in necrotizing enterocolitis (NEC) pathogenesis. We hypothesize that aberrant expression or function of iAP contributes to th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c501aab41b98a9197dd9be61e25839
https://doi.org/10.1016/j.jss.2010.04.048

Target of rapamycin (TOR) signaling controls epithelial morphogenesis in the vertebrate intestine

Autor: Khadijah Makky, Jackie Tekiela, Alan N. Mayer

Publikováno v: Developmental Biology. 303:501-513

The target of rapamycin (TOR) signaling pathway regulates cell growth and proliferation, however the extent to which TOR signaling mediates particular organogenesis programs remains to be determined. Here we report an examination of TOR signaling dur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1d39fc92c6f98069b4d28c0148f942
https://doi.org/10.1016/j.ydbio.2006.11.030

Genetic Steps to Organ Laterality in Zebrafish

Autor: Kerri S. Warren, Donald Jackson, Jau-Nian Chen, Allan M. Goldstein, Per Lindahl, George N. Serbedzija, Mark C. Fishman, Frauke van Bebber, John D. Mably, Fabrizio C. Serluca, Alan N. Mayer, Pascal Haffter, Sarah J. Childs

Publikováno v: Comparative and Functional Genomics
Comparative and functional genomics, vol 2, iss 2
Comparative and Functional Genomics, Vol 2, Iss 2, Pp 60-68 (2001)

All internal organs are asymmetric along the left–right axis. Here we report a genetic screen to discover mutations which perturb organ laterality. Our particular focus is upon whether, and how, organs are linked to each other as they achieve their

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51464663206d75d08de99e664d52e9b4
http://europepmc.org/articles/PMC2447199

Stringent and Relaxed Specificities of TaqI Endonuclease: Interactions with Metal Cofactors and DNA Sequences

Autor: Alan N. Mayer, Francis Barany, Weiguo Cao

Publikováno v: Biochemistry. 34:2276-2283

We have studied the roles of metal cofactors Mg2+ and Mn2+ in modulating substrate specificities during the enzymatic cycle of TaqI endonuclease using steady state and single-turnover kinetics. In the presence of Mg2+, stringent discrimination of Taq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17deb46d2b935412fc0a14a91ceb7abb
https://doi.org/10.1021/bi00007a023