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Page 1
Loss of ADAM17 is associated with severe multiorgan dysfunction.
Bandsma RH, van Goor H, Yourshaw M, Horlings RK, Jonkman MF, Schölvinck EH, Karrenbeld A, Scheenstra R, Kömhoff M, Rump P, Koopman-Keemink Y, Nelson SF, Escher JC, Cutz E, Martín MG. Bandsma RH, et al. Among authors: martin mg. Hum Pathol. 2015 Jun;46(6):923-8. doi: 10.1016/j.humpath.2015.02.010. Epub 2015 Mar 5. Hum Pathol. 2015. PMID: 25804906 Free PMC article.
Functional consequences of a novel variant of PCSK1.
Pickett LA, Yourshaw M, Albornoz V, Chen Z, Solorzano-Vargas RS, Nelson SF, Martín MG, Lindberg I. Pickett LA, et al. Among authors: martin mg. PLoS One. 2013;8(1):e55065. doi: 10.1371/journal.pone.0055065. Epub 2013 Jan 28. PLoS One. 2013. PMID: 23383060 Free PMC article.
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
Martín MG, Lindberg I, Solorzano-Vargas RS, Wang J, Avitzur Y, Bandsma R, Sokollik C, Lawrence S, Pickett LA, Chen Z, Egritas O, Dalgic B, Albornoz V, de Ridder L, Hulst J, Gok F, Aydoğan A, Al-Hussaini A, Gok DE, Yourshaw M, Wu SV, Cortina G, Stanford S, Georgia S. Martín MG, et al. Gastroenterology. 2013 Jul;145(1):138-148. doi: 10.1053/j.gastro.2013.03.048. Epub 2013 Apr 2. Gastroenterology. 2013. PMID: 23562752 Free PMC article.
From diarrhea to obesity in prohormone convertase 1/3 deficiency: age-dependent clinical, pathologic, and enteroendocrine characteristics.
Bandsma RH, Sokollik C, Chami R, Cutz E, Brubaker PL, Hamilton JK, Perlman K, Zlotkin S, Sigalet DL, Sherman PM, Martin MG, Avitzur Y. Bandsma RH, et al. Among authors: martin mg. J Clin Gastroenterol. 2013 Nov-Dec;47(10):834-43. doi: 10.1097/MCG.0b013e3182a89fc8. J Clin Gastroenterol. 2013. PMID: 24135795 Free PMC article.
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.
Yourshaw M, Solorzano-Vargas RS, Pickett LA, Lindberg I, Wang J, Cortina G, Pawlikowska-Haddal A, Baron H, Venick RS, Nelson SF, Martín MG. Yourshaw M, et al. Among authors: martin mg. J Pediatr Gastroenterol Nutr. 2013 Dec;57(6):759-67. doi: 10.1097/MPG.0b013e3182a8ae6c. J Pediatr Gastroenterol Nutr. 2013. PMID: 24280991 Free PMC article.
A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
Wilschanski M, Abbasi M, Blanco E, Lindberg I, Yourshaw M, Zangen D, Berger I, Shteyer E, Pappo O, Bar-Oz B, Martín MG, Elpeleg O. Wilschanski M, et al. Among authors: martin mg. PLoS One. 2014 Oct 1;9(10):e108878. doi: 10.1371/journal.pone.0108878. eCollection 2014. PLoS One. 2014. PMID: 25272002 Free PMC article.
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, Cole T, Pinsk V, Yerushalmi B, Gurkan OE, Yourshaw M, Hernandez E, Oesterreicher S, Naik S, Sanderson IR, Axelsson I, Agardh D, Boland CR, Martin MG, Putnam CD, Sivagnanam M. Pathak SJ, et al. Among authors: martin mg. Hum Mutat. 2019 Feb;40(2):142-161. doi: 10.1002/humu.23688. Epub 2018 Nov 29. Hum Mutat. 2019. PMID: 30461124 Free PMC article.
400 results