TY - JOUR AU - Rieck, G. W. AU - Schade, W. PY - 1975 DA - 1975// TI - Arachnomelia (spider limbs), a new hereditary fatal malformation syndrome of cattle. [in German] JO - Dtsch Tierärztl Wochenschr VL - 82 ID - Rieck1975 ER - TY - JOUR AU - Buitkamp, J. AU - Luntz, B. AU - Emmerling, R. AU - Reichenbach, H. D. AU - Weppert, M. AU - Schade, B. AU - Meier, N. AU - Götz, K. U. PY - 2008 DA - 2008// TI - Syndrome of arachnomelia in Simmental cattle JO - BMC Vet Res VL - 4 UR - https://doi.org/10.1186/1746-6148-4-39 DO - 10.1186/1746-6148-4-39 ID - Buitkamp2008 ER - TY - JOUR AU - König, H. AU - Galliard, C. AU - Chavaz, J. AU - Hunziker, F. AU - Tontis, A. PY - 1987 DA - 1987// TI - Prüfung von Schweizer Braunvieh-Bullen auf das vererbte Syndrom der Arachnomelie und Arthrogrypose (SAA) durch Untersuchung der Nachkommen im Fetalstadium JO - Tierärztl Umsch VL - 42 ID - König1987 ER - TY - JOUR AU - Buitkamp, J. AU - Kühn, C. AU - Semmer, J. AU - Götz, K. U. PY - 2009 DA - 2009// TI - Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle JO - Anim Genet VL - 40 UR - https://doi.org/10.1111/j.1365-2052.2009.01933.x DO - 10.1111/j.1365-2052.2009.01933.x ID - Buitkamp2009 ER - TY - STD TI - Bayerische Zuchtwert-Informationen, BaZI-Rind. [http://www.lfl.bayern.de/bazi-rind/] UR - http://www.lfl.bayern.de/bazi-rind/ ID - ref5 ER - TY - JOUR AU - Drögemüller, C. AU - Rossi, M. AU - Gentile, A. AU - Testoni, S. AU - Jorg, H. AU - Stranzinger, G. AU - Drögemüller, M. AU - Glowatzki-Mullis, M. L. AU - Leeb, T. PY - 2009 DA - 2009// TI - Arachnomelia in Brown Swiss cattle maps to chromosome 5 JO - Mamm Genome VL - 20 UR - https://doi.org/10.1007/s00335-008-9157-2 DO - 10.1007/s00335-008-9157-2 ID - Drögemüller2009 ER - TY - JOUR AU - Ihara, N. AU - Takasuga, A. AU - Mizoshita, K. AU - Takeda, H. AU - Sugimoto, M. AU - Mizoguchi, Y. AU - Hirano, T. AU - Itoh, T. AU - Watanabe, T. AU - Reed, K. M. PY - 2004 DA - 2004// TI - A comprehensive genetic map of the cattle genome based on 3802 microsatellites JO - Genome Res VL - 14 UR - https://doi.org/10.1101/gr.2741704 DO - 10.1101/gr.2741704 ID - Ihara2004 ER - TY - JOUR AU - Huber, C. AU - Dias-Santagata, D. AU - Glaser, A. AU - O'Sullivan, J. AU - Brauner, R. AU - Wu, K. AU - Xu, X. AU - Pearce, K. AU - Wang, R. AU - Uzielli, M. L. PY - 2005 DA - 2005// TI - Identification of mutations in CUL7 in 3-M syndrome JO - Nat Genet VL - 37 UR - https://doi.org/10.1038/ng1628 DO - 10.1038/ng1628 ID - Huber2005 ER - TY - JOUR AU - Mundlos, S. AU - Otto, F. AU - Mundlos, C. AU - Mulliken, J. B. AU - Aylsworth, A. S. AU - Albright, S. AU - Lindhout, D. AU - Cole, W. G. AU - Henn, W. AU - Knoll, J. H. PY - 1997 DA - 1997// TI - Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia JO - Cell VL - 89 UR - https://doi.org/10.1016/S0092-8674(00)80260-3 DO - 10.1016/S0092-8674(00)80260-3 ID - Mundlos1997 ER - TY - JOUR AU - Frontini, M. AU - Soutoglou, E. AU - Argentini, M. AU - Bole-Feysot, C. AU - Jost, B. AU - Scheer, E. AU - Tora, L. PY - 2005 DA - 2005// TI - TAF9b (formerly TAF9L) is a bona fide TAF that has unique and overlapping roles with TAF9 JO - Mol Cell Biol VL - 25 UR - https://doi.org/10.1128/MCB.25.11.4638-4649.2005 DO - 10.1128/MCB.25.11.4638-4649.2005 ID - Frontini2005 ER - TY - JOUR AU - Katoh, M. PY - 2007 DA - 2007// TI - Networking of WNT, FGF, Notch, BMP, and Hedgehog signaling pathways during carcinogenesis JO - Stem Cell Rev VL - 3 UR - https://doi.org/10.1007/s12015-007-0006-6 DO - 10.1007/s12015-007-0006-6 ID - Katoh2007 ER - TY - JOUR AU - Reiss, J. AU - Cohen, N. AU - Dorche, C. AU - Mandel, H. AU - Mendel, R. R. AU - Stallmeyer, B. AU - Zabot, M. T. AU - Dierks, T. PY - 1998 DA - 1998// TI - Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency JO - Nat Genet VL - 20 UR - https://doi.org/10.1038/1706 DO - 10.1038/1706 ID - Reiss1998 ER - TY - JOUR AU - Castellanos, A. AU - Lang, G. AU - Frampton, J. AU - Weston, K. PY - 2007 DA - 2007// TI - Regulation of erythropoiesis by the neuronal transmembrane protein Lrfn2 JO - Exp Hematol VL - 35 UR - https://doi.org/10.1016/j.exphem.2007.02.004 DO - 10.1016/j.exphem.2007.02.004 ID - Castellanos2007 ER - TY - JOUR AU - Wang, C. Y. AU - Chang, K. AU - Petralia, R. S. AU - Wang, Y. X. AU - Seabold, G. K. AU - Wenthold, R. J. PY - 2006 DA - 2006// TI - A novel family of adhesion-like molecules that interacts with the NMDA receptor JO - J Neurosci VL - 26 UR - https://doi.org/10.1523/JNEUROSCI.3799-05.2006 DO - 10.1523/JNEUROSCI.3799-05.2006 ID - Wang2006 ER - TY - JOUR AU - Merle, B. AU - Itzstein, C. AU - Delmas, P. D. AU - Chenu, C. PY - 2003 DA - 2003// TI - NMDA glutamate receptors are expressed by osteoclast precursors and involved in the regulation of osteoclastogenesis JO - J Cell Biochem VL - 90 UR - https://doi.org/10.1002/jcb.10625 DO - 10.1002/jcb.10625 ID - Merle2003 ER - TY - JOUR AU - Itzstein, C. AU - Espinosa, L. AU - Delmas, P. D. AU - Chenu, C. PY - 2000 DA - 2000// TI - Specific antagonists of NMDA receptors prevent osteoclast sealing zone formation required for bone resorption JO - Biochem Biophys Res Commun VL - 268 UR - https://doi.org/10.1006/bbrc.2000.2097 DO - 10.1006/bbrc.2000.2097 ID - Itzstein2000 ER - TY - JOUR AU - Gray, T. A. AU - Nicholls, R. D. PY - 2000 DA - 2000// TI - Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames JO - Rna VL - 6 UR - https://doi.org/10.1017/S1355838200000182 DO - 10.1017/S1355838200000182 ID - Gray2000 ER - TY - JOUR AU - Mize, C. AU - Johnson, J. L. AU - Rajagopalan, K. V. PY - 1995 DA - 1995// TI - Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency JO - J Inherit Metab Dis VL - 18 UR - https://doi.org/10.1007/BF00710416 DO - 10.1007/BF00710416 ID - Mize1995 ER - TY - JOUR AU - Sebastio, G. AU - Sperandeo, M. P. AU - Panico, M. AU - de Franchis, R. AU - Kraus, J. P. AU - Andria, G. PY - 1995 DA - 1995// TI - The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations JO - Am J Hum Genet VL - 56 ID - Sebastio1995 ER - TY - JOUR AU - Lee, H. J. AU - Adham, I. M. AU - Schwarz, G. AU - Kneussel, M. AU - Sass, J. O. AU - Engel, W. AU - Reiss, J. PY - 2002 DA - 2002// TI - Molybdenum cofactor-deficient mice resemble the phenotype of human patients JO - Hum Mol Genet VL - 11 UR - https://doi.org/10.1093/hmg/11.26.3309 DO - 10.1093/hmg/11.26.3309 ID - Lee2002 ER - TY - CHAP AU - Johnson, J. L. AU - Duran, M. ED - Scriver, C. ED - Beaudet, A. ED - Sly, W. ED - Valle, D. PY - 2001 DA - 2001// TI - Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency BT - The metabolic and molecular bases of inherited disease PB - McGraw-Hill CY - New York ID - Johnson2001 ER - TY - CHAP AU - Simmonds, H. A. AU - Reiter, S. AU - Nishino, T. ED - Scriver, C. ED - Beaudet, A. ED - Sly, W. ED - Valle, D. PY - 1995 DA - 1995// TI - Hereditary xanthinuria BT - The metabolic and molecular bases of inherited disease PB - McGraw-Hill CY - New York ID - Simmonds1995 ER - TY - JOUR AU - Reiss, J. AU - Bonin, M. AU - Schwegler, H. AU - Sass, J. O. AU - Garattini, E. AU - Wagner, S. AU - Lee, H. J. AU - Engel, W. AU - Riess, O. AU - Schwarz, G. PY - 2005 DA - 2005// TI - The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis JO - Mol Genet Metab VL - 85 UR - https://doi.org/10.1016/j.ymgme.2005.01.008 DO - 10.1016/j.ymgme.2005.01.008 ID - Reiss2005 ER - TY - JOUR AU - Gross-Hardt, S. AU - Reiss, J. PY - 2002 DA - 2002// TI - The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons JO - Mol Genet Metab VL - 76 UR - https://doi.org/10.1016/S1096-7192(02)00100-2 DO - 10.1016/S1096-7192(02)00100-2 ID - Gross-Hardt2002 ER - TY - JOUR AU - Endres, W. AU - Shin, Y. S. AU - Gunther, R. AU - Ibel, H. AU - Duran, M. AU - Wadman, S. K. PY - 1988 DA - 1988// TI - Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency JO - Eur J Pediatr VL - 148 UR - https://doi.org/10.1007/BF00441412 DO - 10.1007/BF00441412 ID - Endres1988 ER - TY - JOUR AU - Hobson, E. E. AU - Thomas, S. AU - Crofton, P. M. AU - Murray, A. D. AU - Dean, J. C. AU - Lloyd, D. PY - 2005 DA - 2005// TI - Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy JO - Eur J Pediatr VL - 164 UR - https://doi.org/10.1007/s00431-005-1729-5 DO - 10.1007/s00431-005-1729-5 ID - Hobson2005 ER - TY - JOUR AU - Drögemüller, C. AU - Tetens, J. AU - Sigurdsson, S. AU - Gentile, A. AU - Testoni, S. AU - Lindblad-Toh, K. AU - Leeb, T. PY - 2010 DA - 2010// TI - Identification of the bovine arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development JO - PLoS Genet VL - 6 UR - https://doi.org/10.1371/journal.pgen.1001079 DO - 10.1371/journal.pgen.1001079 ID - Drögemüller2010 ER - TY - JOUR AU - Ewing, B. AU - Hillier, L. AU - Wendl, M. C. AU - Green, P. PY - 1998 DA - 1998// TI - Base-calling of automated sequencer traces using phred. I. Accuracy assessment JO - Genome Res VL - 8 UR - https://doi.org/10.1101/gr.8.3.175 DO - 10.1101/gr.8.3.175 ID - Ewing1998 ER - TY - JOUR AU - Gordon, D. AU - Abajian, C. AU - Green, P. PY - 1998 DA - 1998// TI - Consed: a graphical tool for sequence finishing JO - Genome Res VL - 8 UR - https://doi.org/10.1101/gr.8.3.195 DO - 10.1101/gr.8.3.195 ID - Gordon1998 ER - TY - JOUR AU - Nickerson, D. A. AU - Tobe, V. O. AU - Taylor, S. L. PY - 1997 DA - 1997// TI - PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing JO - Nucleic Acids Res VL - 25 UR - https://doi.org/10.1093/nar/25.14.2745 DO - 10.1093/nar/25.14.2745 ID - Nickerson1997 ER - TY - JOUR AU - Rizzi, M. AU - Schindelin, H. PY - 2002 DA - 2002// TI - Structural biology of enzymes involved in NAD and molybdenum cofactor biosynthesis JO - Curr Opin Struct Biol VL - 12 UR - https://doi.org/10.1016/S0959-440X(02)00385-8 DO - 10.1016/S0959-440X(02)00385-8 ID - Rizzi2002 ER -