Searching journal content for articles similar to Loftus et al. 6 (1): 26.

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  1. ARTICLE: Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
    • J Dixon,
    • S J Edwards,
    • I Anderson,
    • A Brass,
    • P J Scambler,
    • and M J Dixon
    Genome Res. March 1997 7: 223-234; doi:10.1101/gr.7.3.223
    ....K., Dixon, J. Koprivnikar, K. Dixon, M.J. and Wasmuth. J.J. 1996 . Transcriptional map of the Treacher Collins candidate gene region. Genome Res. 6 : 26 – 34 . Meier, U.T. , Blobel. G. Meier, U.T. and Blobel. G. 1992 . Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell 70 : 127 – 138...
  2. Research: Transcriptome analysis reveals novel players in the cranial neural crest gene regulatory network
    • Marcos Simões-Costa,
    • Joanne Tan-Cabugao,
    • Igor Antoshechkin,
    • Tatjana Sauka-Spengler,
    • and Marianne E. Bronner
    Genome Res. February 2014 24: 281-290; Published in Advance January 3, 2014, doi:10.1101/gr.161182.113
    ...confers cranial features on neural crest delamination. PLoS ONE 2: e1142. Trainor PA. 2010. Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet A 152A: 2984–2994. Wang J, Kumar RM, Biggs...
  3. LETTER: A Preliminary Gene Map for the Van der Woude Syndrome Critical Region Derived from 900 kb of Genomic Sequence at 1q32–q41
    • Brian C. Schutte,
    • Bryan C. Bjork,
    • Kevin B. Coppage,
    • Margaret I. Malik,
    • Simon G. Gregory,
    • Deborah J. Scott,
    • Luci M. Brentzell,
    • Yoriko Watanabe,
    • Michael J. Dixon,
    • and Jeffrey C. Murray
    Genome Res. January 1, 2000 10: 81-94; doi:10.1101/gr.10.1.81
    .... 180500), Treacher Collins syndrome (OMIM no. 154500), and Stickler syndrome (OMIM no. 108300, 184840). In these syndromes, haploinsufficiency is evidenced by deletions and/or loss-of-function mutations ( Lu-Kuo et al. 1993 ; Wu et al. 1993 ; Semina et al. 1996 ; Edwards et al. 1997 ; Wicking et al. 1997...
  4. ARTICLE: A contiguous high-resolution radiation hybrid map of 44 loci from the distal portion of the long arm of human chromosome 5.
    • J A Warrington and
    • J J Wasmuth
    Genome Res. July 1996 6: 628-632; doi:10.1101/gr.6.7.628
    ....E. and Gasson. J.C. 1985 . The human gene encoding GM-CSF is at 5q21–q32, the chromosome region deleted in the 5q anomaly. Science 230 : 1282 – 1285 . Jabs, E.W., Li, X. Coss, C.A. Taylor, E.W. Meyers, D.A. and Weber. J.L. 1991 . Mapping the Treacher Collins syndrome locus to 5q31.3–q33.3. Genomics 11 : 193...
  5. Research: Dosage-sensitive functions in embryonic development drove the survival of genes on sex-specific chromosomes in snakes, birds, and mammals
    • Daniel W. Bellott and
    • David C. Page
    Genome Res. February 2021 31: 198-210; Published in Advance January 21, 2021, doi:10.1101/gr.268516.120
    ...to orthologs of other ancestral Z genes in alignments between tiger snake and green anole lizard orthologs (H).Caenophidian Z–W gene pairs are dosage sensitiveWe looked for signs of dosage sensitivity among surviving caenophidian Z–W gene pairs. We mapped various published gene-by-gene measures of dosage...
  6. Research: Natural genetic variation caused by small insertions and deletions in the human genome
    • Ryan E. Mills,
    • W. Stephen Pittard,
    • Julienne M. Mullaney,
    • Umar Farooq,
    • Todd H. Creasy,
    • Anup A. Mahurkar,
    • David M. Kemeza,
    • Daniel S. Strassler,
    • Chris P. Ponting,
    • Caleb Webber,
    • and Scott E. Devine
    Genome Res. June 2011 21: 830-839; Published in Advance April 1, 2011, doi:10.1101/gr.115907.110
    ...(Nijmegen Breakage Syndrome; OMIM: 251260) (Dumon-Jones et al. 2003; Resnick et al. 2003; Tanzanella et al. 2003), and TCOF1 (Treacher Collins syndrome; OMIM: 154500) (Supplemental Table 6; Dixon et al. 2000;Marzalek et al. 2003; Shoo et al. 2004). These analyses indicate that at least some of our INDELs...
  7. Perspective: Insights into neural crest development and evolution from genomic analysis
    • Marcos Simões-Costa and
    • Marianne E. Bronner
    Genome Res. July 2013 23: 1069-1080; doi:10.1101/gr.157586.113
    ...development (The Treacher Collins Syndrome Collaborative Group 1996; Trainor 2010). Genetic mapping and gene expression analysis identified mutations in the Tcof1 gene as the cause of the disease. Mapping of TCOF1 expression in mouse embryos shows that it is enriched in neural crest cells and facialmesenchyme...
  8. Research: Mendelian randomization analyses implicate biogenesis of translation machinery in human aging
    • Sara Javidnia,
    • Stephen Cranwell,
    • Stefanie H. Mueller,
    • Colin Selman,
    • Jennifer M.A. Tullet,
    • Karoline Kuchenbaecker,
    • and Nazif Alic
    Genome Res. February 2022 32: 258-265; Published in Advance January 25, 2022, doi:10.1101/gr.275636.121
    ...LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, et al. 2011. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 43: 20–22. doi:10.1038/ng.724 ↵Deelen J, Evans DS, Arking DE, Tesi N, Nygaard M, Liu X, Wojczynski MK, Biggs ML, van der Spek A...
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  9. LETTER: A multidimensional analysis of genes mutated in breast and colorectal cancers
    • Jimmy Lin,
    • Christine M. Gan,
    • Xiaosong Zhang,
    • Siân Jones,
    • Tobias Sjöblom,
    • Laura D. Wood,
    • D. Williams Parsons,
    • Nickolas Papadopoulos,
    • Kenneth W. Kinzler,
    • Bert Vogelstein,
    • Giovanni Parmigiani,
    • and Victor E. Velculescu
    Genome Res. September 2007 17: 1304-1318; Published in Advance August 10, 2007, doi:10.1101/gr.6431107
    ...associated with colorectal cancer. Interestingly, proteins containing MAD homology, ephrin receptor, and Treacher Collins Syndrome protein domains were found to be exclusively mutated in colorectal cancers, while members of the other domains were mutated in both tumor types. Other domains shared by both...
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