| 1 | HOXA13, HOXD13
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| Distal Limb Patterning Requires Modulation of cis-Regulatory Activities by HOX13.
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| Sheth R, Barozzi I, Langlais D, Osterwalder M, Nemec S, Carlson HL, Stadler HS, Visel A, Drouin J, Kmita M.
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| Cell Rep 17(11):2913-2926. doi: 10.1016/j.celrep.2016.11.039.
2016
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| 2 | HOXA13, HOXD13
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| HOX13 proteins: the molecular switcher in Hoxd bimodal regulation.
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| Ros MA.
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| Genes Dev 30(10):1135-7. doi: 10.1101/gad.283598.116.
2016
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| 3 | HOXD13, SDTy5
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| A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
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| Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M.
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| Am J Med Genet A 170(3):615-21. doi: 10.1002/ajmg.a.37464. Epub 2015 Nov 18.
2016
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| 4 | HOXD13, SDTY5
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| A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
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| Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M.
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| Am J Med Genet A 170(3):615-21. doi: 10.1002/ajmg.a.37464. Epub 2015 Nov 18.
2016
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| 5 | HOXD13
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| Molecular mechanism of Hoxd13-mediated congenital malformations in rat embryos.
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| Wang F, Du M, Wang R, Zhou J, Zhang W, Li H.
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| Int J Clin Exp Pathol 8(12):15591-8. eCollection 2015 Dec 1.
2015
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| 6 | HOXD13
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| HOXD13 methylation status is a prognostic indicator in breast cancer.
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| Zhong Z, Shan M, Wang J, Liu T, Xia B, Niu M, Ren Y, Pang D.
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| Int J Clin Exp Pathol 8(9):10716-24. eCollection 2015 Sep 1.
2015
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| 7 | HOXD13
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| Oxidative stress leads to increased mutation frequency in a murine model of myelodysplastic syndrome.
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| Chung YJ, Robert C, Gough SM, Rassool FV, Aplan PD.
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| Leuk Res 38(1):95-102. doi: 10.1016/j.leukres.2013.07.008. Epub 2013 Aug 16.
2014
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| 8 | HOXD13, PSDY2
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| A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
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| Zhou X, Zheng C, He B, Zhu Z, Li P, He X, Zhu S, Yang C, Lao Z, Zhu Q, Liu X.
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| Bone 57(1):237-41. doi: 10.1016/j.bone.2013.07.039. Epub 2013 Aug 12.
2013
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| 9 | HOXD13
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| A function for all posterior Hoxd genes during digit development?
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| Delpretti S, Zakany J, Duboule D.
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| Dev Dyn 241(4):792-802. doi: 10.1002/dvdy.23756. Epub 2012 Feb 28.
2012
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| 10 | GLI3, HOXD13
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| An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.
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| Brison N, Debeer P, Fantini S, Oley C, Zappavigna V, Luyten FP, Tylzanowski P.
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| Hum Mol Genet 21(11):2464-75. doi: 10.1093/hmg/dds060. Epub 2012 Feb 27.
2012
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| 11 | HOXD13, PSDY2
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| A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.
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| Kurban M, Wajid M, Petukhova L, Shimomura Y, Christiano AM.
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| J Hum Genet 56(10):701-6. doi: 10.1038/jhg.2011.84. Epub 2011 Aug 4.
2011
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| 12 | HOXD13, PSDY2
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| A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.
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| Fantini S, Vaccari G, Brison N, Debeer P, Tylzanowski P, Zappavigna V.
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| Hum Mol Genet 18(5):847-60. Epub 2008 Dec 5.
2009
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| 13 | GMNN, HOXD13
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| HOXD13 binds DNA replication origins to promote origin licensing and is inhibited by geminin.
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| Salsi V, Ferrari S, Ferraresi R, Cossarizza A, Grande A, Zappavigna V.
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| Mol Cell Biol 29(21):5775-88. Epub 2009 Aug 24.PMID: 19703996 2009
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| 14 | HOXD13, PSDY2
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| Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly.
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| Wajid M, Ishii Y, Kurban M, Dua-Awereh MB, Shimomura Y, Christiano AM.
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| Clin Genet 76(3):300-2. Epub 2009 Aug 17. No abstract available.
2009
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| 15 | HOXD13
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| Identification of a HOXD13 mutation in a VACTERL patient.
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| Garcia-Barceló MM, Wong KK, Lui VC, Yuan ZW, So MT, Ngan ES, Miao XP, Chung PH, Khong PL, Tam PK.
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| Am J Med Genet A 146A(24):3181-5.
2008
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| 16 | HOXD13
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| HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1.
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| Wang LL, Fu WN, Li-Ling J, Li ZG, Li LY, Sun KL.
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| Cytogenet Genome Res 121(3-4):189-95. Epub 2008 Aug 28.PMID: 18758158 2008
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| 17 | HOXD13, NUP98
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| Leukemic transformation in mice expressing a NUP98-HOXD13 transgene is accompanied by spontaneous mutations in Nras, Kras, and Cbl.
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| Slape C, Liu LY, Beachy S, Aplan PD.
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| Blood 112(5):2017-9. Epub 2008 Jun 19.
2008
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| 18 | HOXD13,SDTY5
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| Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
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| Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X.
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| Am J Hum Genet 80(2):361-71. Epub 2007 Jan 3. 2007
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| 19 | HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9
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| Distinct roles and regulations for HoxD genes in metanephric kidney development.
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| Di-Poď N, Zákány J, Duboule D.
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| PLoS Genet 3(12):e232.PMID: 18159948 2007
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| 20 | ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
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| Homeodomain revisited: a lesson from disease-causing mutations.
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| Chi YI.
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| Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
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| 21 | HOXD13, PSDY2
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| A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
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| Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N.
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| Am J Med Genet A 138(4):328-39. 2005
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| 22 | HOXD12, HOXD13
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| Aberrant expression of HOX genes in human invasive breast carcinoma.
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| Makiyama K, Hamada J, Takada M, Murakawa K, Takahashi Y, Tada M, Tamoto E, Shindo G, Matsunaga A, Teramoto K, Komuro K, Kondo S, Katoh H, Koike T, Moriuchi T.
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| Oncol Rep 13(4):673-9.PMID: 15756441 2005
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| 23 | BDD, HOXD13
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| Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
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| Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO.
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| Am J Hum Genet 72(4):984-97. Epub 2003 Mar 14. 2003
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| 24 | EVX2, HOXD@, HOXD10, HOXD11, HOXD12, HOXD13, HOXD9, PSDY2, SHFM5, DEL2Q31
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| A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
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| Goodman FR, Majewski F, Collins AL, Scambler PJ.
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| Am J Hum Genet 70(2):547-55. 2002
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| 25 | HOXD13, PSDY2
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| HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
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| Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM.
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| Am J Med Genet 110(2):116-21. 2002
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| 26 | HOXD13, PSDY2
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| Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
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| Goodman F, et al.
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| Am J Hum Genet 63 : 992-1000. 1998
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| 27 | HOXD13, PSDY2
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| Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
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| Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ.
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| Proc Natl Acad Sci U S A 94(14):7458-63. 1997
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| 28 | HOXD13, PSDY2
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| Genomic structure of HOXD13 gene : a nine polyalanine duplication causes synpolydactyly in two unrelated families.
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| Akarsu AN, et al.
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| Hum Mol Genet 5 : 945-952. 1996
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| 29 | HOXD13, PSDY2
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| Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.
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| Muragaki Y, et al.
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| Science 272 : 548-551. 1996
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| 30 | HOXD12, HOXD13
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| A mutational analysis of the 5' HoxD genes : dissection of genetic interactions during limb development in the mouse.
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| Davis AP, et al.
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| Development 122 : 1175-1185. 1996
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