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Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER. Hartley JL, et al. Among authors: kahr wh. Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. doi: 10.1053/j.gastro.2010.02.010. Epub 2010 Feb 20. Gastroenterology. 2010. PMID: 20176027 Free PMC article.
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J. Kahr WH, et al. Nat Genet. 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884. Nat Genet. 2011. PMID: 21765413 Free PMC article.
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L. Mendoza-Londono R, et al. Among authors: kahr wh. Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581468
Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.
Kahr WH, Lo RW, Li L, Pluthero FG, Christensen H, Ni R, Vaezzadeh N, Hawkins CE, Weyrich AS, Di Paola J, Landolt-Marticorena C, Gross PL. Kahr WH, et al. Blood. 2013 Nov 7;122(19):3349-58. doi: 10.1182/blood-2013-04-499491. Epub 2013 Jul 16. Blood. 2013. PMID: 23861251 Free PMC article.
108 results