- SHFM1
Split hand/foot malformation (ectrodactyly) type 1, also known as SHFM1, is a human
gene .cite web | title = Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7979| accessdate = ]PBB_Summary
section_title =
summary_text = The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle.cite web | title = Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7979| accessdate = ]References
Further reading
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citations =
*cite journal | author=Sharland M, Patton MA, Hill L |title=Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. |journal=Am. J. Med. Genet. |volume=39 |issue= 4 |pages= 413–4 |year= 1991 |pmid= 1877619 |doi= 10.1002/ajmg.1320390410
*cite journal | author=Roberts SH, Hughes HE, Davies SJ, Meredith AL |title=Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. |journal=J. Med. Genet. |volume=28 |issue= 7 |pages= 479–81 |year= 1991 |pmid= 1895319 |doi=
*cite journal | author=Crackower MA, Scherer SW, Rommens JM, "et al." |title=Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. |journal=Hum. Mol. Genet. |volume=5 |issue= 5 |pages= 571–9 |year= 1997 |pmid= 8733122 |doi=
*cite journal | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi=
*cite journal | author=Jäntti J, Lahdenranta J, Olkkonen VM, "et al." |title=SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 3 |pages= 909–14 |year= 1999 |pmid= 9927667 |doi=
*cite journal | author=Marston NJ, Richards WJ, Hughes D, "et al." |title=Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals. |journal=Mol. Cell. Biol. |volume=19 |issue= 7 |pages= 4633–42 |year= 1999 |pmid= 10373512 |doi=
*cite journal | author=Yang H, Jeffrey PD, Miller J, "et al." |title=BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. |journal=Science |volume=297 |issue= 5588 |pages= 1837–48 |year= 2002 |pmid= 12228710 |doi= 10.1126/science.297.5588.1837
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Scherer SW, Cheung J, MacDonald JR, "et al." |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423
*cite journal | author=Hillier LW, Fulton RS, Fulton LA, "et al." |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782
*cite journal | author=Sone T, Saeki Y, Toh-e A, Yokosawa H |title=Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae. |journal=J. Biol. Chem. |volume=279 |issue= 27 |pages= 28807–16 |year= 2004 |pmid= 15117943 |doi= 10.1074/jbc.M403165200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Baillat D, Hakimi MA, Näär AM, "et al." |title=Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II. |journal=Cell |volume=123 |issue= 2 |pages= 265–76 |year= 2005 |pmid= 16239144 |doi= 10.1016/j.cell.2005.08.019
*cite journal | author=Kharrat N, Ayadi I, Rebaï A |title=Sample size computation for association studies using case-parents design. |journal=J. Genet. |volume=85 |issue= 3 |pages= 187–91 |year= 2007 |pmid= 17406092 |doi=PBB_Controls
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