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An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival.
Fyfe JC, Menotti-Raymond M, David VA, Brichta L, Schäffer AA, Agarwala R, Murphy WJ, Wedemeyer WJ, Gregory BL, Buzzell BG, Drummond MC, Wirth B, O'Brien SJ. Fyfe JC, et al. Among authors: schaffer aa. Genome Res. 2006 Sep;16(9):1084-90. doi: 10.1101/gr.5268806. Epub 2006 Aug 9. Genome Res. 2006. PMID: 16899656 Free PMC article.
Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.
He Q, Madsen M, Kilkenney A, Gregory B, Christensen EI, Vorum H, Højrup P, Schäffer AA, Kirkness EF, Tanner SM, de la Chapelle A, Giger U, Moestrup SK, Fyfe JC. He Q, et al. Among authors: schaffer aa. Blood. 2005 Aug 15;106(4):1447-53. doi: 10.1182/blood-2005-03-1197. Epub 2005 Apr 21. Blood. 2005. PMID: 15845892 Free PMC article.
Novel gene acquisition on carnivore Y chromosomes.
Murphy WJ, Pearks Wilkerson AJ, Raudsepp T, Agarwala R, Schäffer AA, Stanyon R, Chowdhary BP. Murphy WJ, et al. Among authors: schaffer aa. PLoS Genet. 2006 Mar;2(3):e43. doi: 10.1371/journal.pgen.0020043. Epub 2006 Mar 31. PLoS Genet. 2006. PMID: 16596168 Free PMC article.
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. Johnston JJ, et al. Among authors: schaffer aa. Am J Hum Genet. 2000 Oct;67(4):814-21. doi: 10.1086/303089. Epub 2000 Aug 21. Am J Hum Genet. 2000. PMID: 10952871 Free PMC article.
301 results