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Page 1
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Among authors: janecke ar. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. Heinz-Erian P, et al. Among authors: janecke ar. Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185281 Free PMC article.
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D, Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA. Ruemmele FM, et al. Among authors: janecke ar. Hum Mutat. 2010 May;31(5):544-51. doi: 10.1002/humu.21224. Hum Mutat. 2010. PMID: 20186687
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T. Janecke AR, et al. Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358773 Free PMC article.
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
Holt-Danborg L, Vodopiutz J, Nonboe AW, De Laffolie J, Skovbjerg S, Wolters VM, Müller T, Hetzer B, Querfurt A, Zimmer KP, Jensen JK, Entenmann A, Heinz-Erian P, Vogel LK, Janecke AR. Holt-Danborg L, et al. Among authors: janecke ar. Hum Mol Genet. 2019 Mar 1;28(5):828-841. doi: 10.1093/hmg/ddy394. Hum Mol Genet. 2019. PMID: 30445423
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D, Vogel GF, Frey TK, Ayyıldız Civan H, Aksu AÜ, Avitzur Y, Ramos Boluda E, Çakır M, Demir AM, Deppisch C, Duba HC, Düker G, Gerner P, Hertecant J, Hornová J, Kathemann S, Koeglmeier J, Koutroumpa A, Lanzersdorfer R, Lev-Tzion R, Lima R, Mansour S, Meissl M, Melek J, Miqdady M, Montoya JH, Posovszky C, Rachman Y, Siahanidou T, Tabbers M, Uhlig HH, Ünal S, Wirth S, Ruemmele FM, Hess MW, Huber LA, Müller T, Sturm E, Janecke AR. Aldrian D, et al. Among authors: janecke ar. J Clin Med. 2021 Jan 28;10(3):481. doi: 10.3390/jcm10030481. J Clin Med. 2021. PMID: 33525641 Free PMC article.
Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea.
Norsa L, Berni Canani R, Duclaux-Loras R, Bequet E, Köglmeier J, Russell RK, Uhlig HH, Travis S, Hollis J, Koletzko S, Grimaldi G, Castaldo G, Rodrigues A, Deflandre J, Dembinski L, Shah N, Heinz-Erian P, Janecke A, Leskinen S, Wedenoja S, Koskela R, Lachaux A, Kolho KL, Ruemmele FM. Norsa L, et al. J Crohns Colitis. 2021 Oct 7;15(10):1679-1685. doi: 10.1093/ecco-jcc/jjab056. J Crohns Colitis. 2021. PMID: 33770165
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. Duclaux-Loras R, et al. Among authors: janecke ar. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997. J Clin Invest. 2022. PMID: 35575086 Free PMC article.
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. Müller T, et al. Among authors: janecke ar. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24. Nat Genet. 2008. PMID: 18724368
183 results