| 1 | DEL7Q21, SHFM1
|
| Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.
|
| Sivasankaran A, Srikanth A, Kulshreshtha PS, Anuradha D, Kadandale JS, Samuel CR.
|
| Mol Syndromol 6(6):287-96. doi: 10.1159/000443708.
2016
|
| 2 | DLX5, DLX6, SHFM1
|
| The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6-/- shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligand.
|
| Conte D, Garaffo G, Lo Iacono N, Mantero S, Piccolo S, Cordenonsi M, Perez-Morga D, Orecchia V, Poli V, Merlo GR.
|
| Hum Mol Genet 25(4):740-54. doi: 10.1093/hmg/ddv514. Epub 2015 Dec 18.
2016
|
| 3 | BRCA2, RPA1, SHFM1
|
| Promotion of BRCA2-Dependent Homologous Recombination by DSS1 via RPA Targeting and DNA Mimicry.
|
| Zhao W, Vaithiyalingam S, San Filippo J, Maranon DG, Jimenez-Sainz J, Fontenay GV, Kwon Y, Leung SG, Lu L, Jensen RB, Chazin WJ, Wiese C, Sung P.
|
| Mol Cell 59(2):176-87. doi: 10.1016/j.molcel.2015.05.032.
2015
|
| 4 | PCID2, SHFM1
|
| Conformational stability of PCID2 upon DSS1 binding with molecular dynamics simulation.
|
| Liu Q, Hu G, Cao Z, Wang J, Chen H.
|
| J Mol Model 21(5):127. doi: 10.1007/s00894-015-2664-7.
2015
|
| 5 | ENY2, PCID2, SHFM1
|
| Human TREX2 components PCID2 and centrin 2, but not ENY2, have distinct functions in protein export and co-localize to the centrosome.
|
| Cunningham CN, Schmidt CA, Schramm NJ, Gaylord MR, Resendes KK.
|
| Exp Cell Res 320(2):209-18. doi: 10.1016/j.yexcr.2013.11.015.
2014
|
| 6 | BRCA2, PCID2, SHFM1
|
| BRCA2 prevents R-loop accumulation and associates with TREX-2 mRNA export factor PCID2.
|
| Bhatia V, Barroso SI, García-Rubio ML, Tumini E, Herrera-Moyano E, Aguilera A.
|
| Nature 511(7509):362-5. doi: 10.1038/nature13374.
2014
|
| 7 | DLX5, DLX6, SHFM1
|
| Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
|
| Rattanasopha S, Tongkobpetch S, Srichomthong C, Kitidumrongsook P, Suphapeetiporn K, Shotelersuk V.
|
| J Med Genet 51(12):817-23. doi: 10.1136/jmedgenet-2014-102576.
2014
|
| 8 | SHFM1
|
| DSSylation, a novel protein modification targets proteins induced by oxidative stress, and facilitates their degradation in cells.
|
| Zhang Y, Chang FM, Huang J, Junco JJ, Maffi SK, Pridgen HI, Catano G, Dang H, Ding X, Yang F, Kim DJ, Slaga TJ, He R, Wei SJ.
|
| Protein Cell 5(2):124-40. doi: 10.1007/s13238-013-0018-8.
2014
|
| 9 | DLX5, SHFM1
|
| Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
|
| Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q.
|
| Eur J Hum Genet 22(9):1105-10. doi: 10.1038/ejhg.2014.7.
2014
|
| 10 | BRCA2, SHFM1
|
| Breast cancers with high DSS1 expression that potentially maintains BRCA2 stability have poor prognosis in the relapse-free survival.
|
| Rezano A, Kuwahara K, Yamamoto-Ibusuki M, Kitabatake M, Moolthiya P, Phimsen S, Suda T, Tone S, Yamamoto Y, Iwase H, Sakaguchi N.
|
| BMC Cancer 13:562. doi: 10.1186/1471-2407-13-562.
2013
|
| 11 | BRCA2, SHFM1
|
| A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization.
|
| Jeyasekharan AD, Liu Y, Hattori H, Pisupati V, Jonsdottir AB, Rajendra E, Lee M, Sundaramoorthy E, Schlachter S, Kaminski CF, Ofir-Rosenfeld Y, Sato K, Savill J, Ayoub N, Venkitaraman AR.
|
| Nat Struct Mol Biol 20(10):1191-8. doi: 10.1038/nsmb.2666.
2013
|
| 12 | BRCA2, SHFM1
|
| Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.
|
| Bonache S, de la Hoya M, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.
|
| J Cancer Res Clin Oncol 139(3):529-32. doi: 10.1007/s00432-013-1385-5.
2013
|
| 13 | SHFM1
|
| Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer.
|
| Ma YY, Lin H, Chang FM, Chang TC, Trieu T, Pridgen HI, Zhang Y, Huang J, Patiño-Guzman K, Diab N, Cantu A, Slaga TJ, Wei SJ.
|
| Carcinogenesis 34(1):68-78. doi: 10.1093/carcin/bgs279.
2013
|
| 14 | DLX5, SHFM1
|
| Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
|
| Shamseldin HE, Faden MA, Alashram W, Alkuraya FS.
|
| J Med Genet 49(1):16-20. doi: 10.1136/jmedgenet-2011-100556. Epub 2011 Nov 25.
2012
|
| 15 | DLX5, DLX6, SHFM1
|
| Functional characterization of tissue-specific enhancers in the DLX5/6 locus.
|
| Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N.
|
| Hum Mol Genet 21(22):4930-8. doi: 10.1093/hmg/dds336. Epub 2012 Aug 21.
2012
|
| 16 | DLX5, DLX6, SHFM1
|
| Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
|
| Kouwenhoven EN, van Heeringen SJ, Tena JJ, Oti M, Dutilh BE, Alonso ME, de la Calle-Mustienes E, Smeenk L, Rinne T, Parsaulian L, Bolat E, Jurgelenaite R, Huynen MA, Hoischen A, Veltman JA, Brunner HG, Roscioli T, Oates E, Wilson M, Manzanares M, Gómez-Skarmeta JL, Stunnenberg HG, Lohrum M, van Bokhoven H, Zhou H.
|
| PLoS Genet 6(8):e1001065.PMID: 20808887 2010
|
| 17 | BRCA2, SHFM1
|
| Depletion of DSS1 protein disables homologous recombinational repair in human cells.
|
| Kristensen CN, Bystol KM, Li B, Serrano L, Brenneman MA.
|
| Mutat Res 694(1-2):60-4. doi: 10.1016/j.mrfmmm.2010.08.007.
2010
|
| 18 | DEL13Q32, DEL6q21, LDHMR, LHDMR, SHFLD2, SHFM1, SHFM8, SHFM9
|
| 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.
|
| Niedrist D, Lurie IW, Schinzel A.
|
| Eur J Hum Genet 17(8):1086-91. Epub 2009 Feb 18. 2009
|
| 19 | SHFM1
|
| Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
|
| van Silfhout AT, van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM.
|
| Eur J Hum Genet 17(11):1432-8. Epub 2009 Apr 29.PMID: 19401716 2009
|
| 20 | DEL7Q21, SHFM1, DLX5, DLX6
|
| Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
|
| Bernardini L, Palka C, Ceccarini C, Capalbo A, Bottillo I, Mingarelli R, Novelli A, Dallapiccola B.
|
| Am J Med Genet A 146(2):238-44. 2008
|
| 21 | DLX5, DLX6, SHFM1, SHFM4
|
| Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects.
|
| Lo Iacono N, Mantero S, Chiarelli A, Garcia E, Mills AA, Morasso MI, Costanzo A, Levi G, Guerrini L, Merlo GR.
|
| Development 135(7):1377-88.PMID: 18326838 2008
|
| 22 | SHFM1
|
| Identification of a specific motif of the DSS1 protein required for proteasome interaction and p53 protein degradation.
|
| Wei SJ, Williams JG, Dang H, Darden TA, Betz BL, Humble MM, Chang FM, Trempus CS, Johnson K, Cannon RE, Tennant RW.
|
| J Mol Biol 383(3):693-712. Epub 2008 Aug 26.PMID: 18775730 2008
|
| 23 | SHFM1, DEL7Q21, DLX5, DLX6
|
| Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
|
| Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V.
|
| Am J Med Genet A 143(4):333-7. 2007
|
| 24 | COL1A2, DEL7Q21, DYT11, KRIT1, SGCE, SHFM1
|
| Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.
|
| Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T.
|
| Brain 130(Pt 10):2736-45. 2007
|
| 25 | SHFM1, SHFM2, SHFM3, SHFM4, SHFM5
|
| The expanding panorama of split hand foot malformation.
|
| Basel D, Kilpatrick MW, Tsipouras P.
|
| Am J Med Genet A 140(13):1359-65. 2006
|
| 26 | SHFM1, SHFM2, SHFM3, SHFM4, SHFM5
|
| Split hand foot malformation (SHFM).
|
| Elliott AM, Evans JA, Chudley AE.
|
| Clin Genet 68(6):501-5. 2005
|
| 27 | SHFM1
|
| Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.
|
| Debeer P.
|
| Clin Genet 65(2):153-5. No abstract available. 2004
|
| 28 | SHFM1
|
| Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae.
|
| Sone T, Saeki Y, Toh-e A, Yokosawa H.
|
| J Biol Chem 279(27):28807-16. Epub 2004 Apr 26. 2004
|
| 29 | BRCA2, RAD51, SHFM1
|
| DSS1 is required for RAD51 focus formation and genomic stability in mammalian cells.
|
| Gudmundsdottir K, Lord CJ, Witt E, Tutt AN, Ashworth A.
|
| EMBO Rep 5(10):989-93. Epub 2004 Sep 10. 2004
|
| 30 | BRCA2, SHFM1
|
| BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure.
|
| Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP.
|
| Science 297(5588):1837-48. 2002
|
| 31 | DEL7Q21,DLX5,DLX6,SHFM1
|
| The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development.
|
| Robledo RF, Rajan L, Li X, Lufkin T.
|
| Genes Dev 16(9):1089-101. 2002
|
| 32 | SHFM1
|
| Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.
|
| Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de Mollerat X, Fischetto R, Causio F, Clarkson K, Stevenson RE, Schwartz CE.
|
| Clin Genet 59(1):28-36. 2001
|
| 33 | SHFM1, DEL7Q21
|
| Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.
|
| Haberlandt E, Loffler J, Hirst-Stadlmann A, Stockl B, Judmaier W, Fischer H, Heinz-Erian P, Muller T, Utermann G, Smith RJ, Janecke AR.
|
| J Med Genet 38(6):405-9. No abstract available. 2001
|
| 34 | SHFM1
|
| Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals.
|
| Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A.
|
| Mol Cell Biol 19(7):4633-42. 1999
|
| 35 | SHFM1
|
| SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast.
|
| Jantti J, Lahdenranta J, Olkkonen VM, Soderlund H, Keranen S.
|
| Proc Natl Acad Sci U S A 96(3):909-14. 1999
|
| 36 | SHFM1, DEL7Q21
|
| The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
|
| Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson SM.
|
| J Med Genet 34(10):857-61. 1997
|
| 37 | DLX5, DLX6, SHFM1, DEL7Q21
|
| Characterization of the split hand/split foot malformation locus SHFM1at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
|
| Crackower MA, et al.
|
| Hum Mol Genet 5 : 571-579. 1996
|
| 38 | SHFM1, DEL7Q21
|
| Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
|
| Ignatius J, et al.
|
| J Med Genet 33 : 507-510. 1996
|
| 39 | SHFM1, DEL7Q21
|
| Ectrodactyly and proximal/intermediate interstitial deletion 7q.
|
| McElveen C, et al.
|
| Am J Med Genet 56 : 1-5. 1995
|
| 40 | SHFM1
|
| Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.
|
| Marinoni JC, et al.
|
| Clin Genet 47 : 90-95. 1995
|
| 41 | SHFM1, DEL7Q21
|
| Bilateral split hand/foot malformation and inv(7)(p22q21.3).
|
| Cobben JM, et al.
|
| J Med Genet 32 : 375-378. 1995
|
| 42 | SHFM1
|
| Heterogeneity of the autosomal dominant split hand/split foot malformation.
|
| Slotogora J.
|
| Am J Hum Genet 56 : 341-342. 1995
|
| 43 | SHFM1
|
| Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1.
|
| Marinoni JC, et al.
|
| Hum Mol Genet 3 : 1355-1357. 1994
|
| 44 | DLX5, SHFM1, DEL7Q21
|
| Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
|
| Scherer SW, et al.
|
| Hum Mol Genet 3 : 1345-1354. 1994
|
| 45 | SHFM1
|
| Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q : further evidence for genetic heterogeneity.
|
| Gurrieri F, et al.
|
| Am J Hum Genet 55 : 853-855. 1994
|
| 46 | SHFM1, DEL7Q21
|
| Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
|
| Scherer SW, et al.
|
| Am J Hum Genet 55 : 12-20. 1994
|
| 47 | SHFM1
|
| Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.
|
| Palmer SE, et al.
|
| Am J Hum Genet 55 : 21-26. 1994
|
| 48 | SHFM1
|
| The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization.
|
| Fukushima Y, et al.
|
| Clin Genet 44 : 50. 1993
|
| 49 | SHFM1
|
| Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.
|
| Genuardi M, et al.
|
| Am J Med Genet 47 : 823-831 1993
|
| 50 | SHFM1, DEL7Q21
|
| EEC Syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3.
|
| Qumsiyeh MB.
|
| Clin Genet 42 : 101. 1992
|
| 51 | SHFM1, DEL7Q21
|
| Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.
|
| Sharland M, et al.
|
| Am J Med Genet 39 : 413-414. 1991
|
| 52 | SHFM1, DEL7Q21
|
| Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.
|
| Roberts SH, et al.
|
| J Med Genet 28 : 479-481. 1991
|
| 53 | SHFM1, DEL7Q21
|
| Deletion of 7q22 and ectrodactyly.
|
| Rivera H, et al.
|
| Genet Couns 2 : 27-31. 1991
|
| 54 | SHFM1, DEL7Q21
|
| EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.
|
| Hasegawa T, et al.
|
| Clin Genet 40 : 202-206. 1991
|
| 55 | SHFM1, DEL7Q21
|
| Ectro-amelia syndrome associated with an interstitial deletion of 7q.
|
| Morey MA, et al.
|
| Am J Med Genet 35 : 95-99. 1990
|
| 56 | SHFM1, DEL7Q21
|
| Interstitial long arm deletion of chromosome 7 and ectrodactyly.
|
| Tajara EH, et al.
|
| Am J Med Genet 32 : 192-194. 1989
|
| 57 | SHFM1, DEL7Q21
|
| Interstitial deletion of a chromosome 7(q11.2-q22.1) in a child with splithand splitfoot malformation.
|
| Pfeiffer RA.
|
| Ann Genet 27 : 45-48. 1984
|
| 58 | SHFM1
|
| Delezione interstiziale del bracchio lungo del cromosoma 7 e sue correlazioni cliniche.
|
| Del Porto G, et al.
|
| Pathologica 75S : 268-271. 1983
|