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Page 1
Multiple roles for neurofibromin in skeletal development and growth.
Kolanczyk M, Kossler N, Kühnisch J, Lavitas L, Stricker S, Wilkening U, Manjubala I, Fratzl P, Spörle R, Herrmann BG, Parada LF, Kornak U, Mundlos S. Kolanczyk M, et al. Among authors: sporle r. Hum Mol Genet. 2007 Apr 15;16(8):874-86. doi: 10.1093/hmg/ddm032. Epub 2007 Feb 22. Hum Mol Genet. 2007. PMID: 17317783
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: sporle r. Pathogenetics. 2010 Feb 2;3(1):2. doi: 10.1186/1755-8417-3-2. Pathogenetics. 2010. PMID: 20181063 Free PMC article.
The open brain (opb) mutation maps to mouse chromosome 1.
Günther T, Spörle R, Schughart K. Günther T, et al. Among authors: sporle r. Mamm Genome. 1997 Aug;8(8):583-5. doi: 10.1007/s003359900509. Mamm Genome. 1997. PMID: 9250866 No abstract available.
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.
Favor J, Sandulache R, Neuhäuser-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Spörle R, Schughart K. Favor J, et al. Among authors: sporle r. Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13870-5. doi: 10.1073/pnas.93.24.13870. Proc Natl Acad Sci U S A. 1996. PMID: 8943028 Free PMC article.
17 results