Citations for
1TRPS1
Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.
Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE.
Am J Med Genet A 173(6):1663-1667. doi: 10.1002/ajmg.a.38204. Epub 2017 Mar 3. 2017
2TRPS1
Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
Solc R, Klugerova M, Vcelak J, Baxova A, Kuklik M, Vseticka J, Beharka R, Hirschfeldova K.
Clin Chim Acta 464:30-36. doi: 10.1016/j.cca.2016.11.007. Epub 2016 Nov 5. 2017
3TRPS1, TRPS3
A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.
Itoh M, Kittaka Y, Niida Y, Saikawa Y.
Clin Pediatr Endocrinol 25(3):115-8. doi: 10.1297/cpe.25.115. Epub 2016 Jul 20. No abstract available. 2016
4TRPS1
Down-regulation of TRPS1 stimulates epithelial-mesenchymal transition and metastasis through repression of FOXA1.
Huang JZ, Chen M, Zeng M, Xu SH, Zou FY, Chen D, Yan GR.
J Pathol 239(2):186-96. doi: 10.1002/path.4716. Epub 2016 Apr 6. 2016
5BAG6, TRPS1
Nuclear cathepsin D enhances TRPS1 transcriptional repressor function to regulate cell cycle progression and transformation in human breast cancer cells.
Bach AS, Derocq D, Laurent-Matha V, Montcourrier P, Sebti S, Orsetti B, Theillet C, Gongora C, Pattingre S, Ibing E, Roger P, Linares LK, Reinheckel T, Meurice G, Kaiser FJ, Gespach C, Liaudet-Coopman E.
Oncotarget 6(29):28084-103. doi: 10.18632/oncotarget.4394. 2015
6TRPS1
Trps1 deficiency inhibits the morphogenesis of secondary hair follicles via decreased Noggin expression.
Sun Y, Nakanishi M, Sato F, Oikawa K, Muragaki Y, Zhou G.
Biochem Biophys Res Commun 456(3):721-6. doi: 10.1016/j.bbrc.2014.12.039. Epub 2014 Dec 13. 2015
7TRPS1
A central role for TRPS1 in the control of cell cycle and cancer development.
Wu L, Wang Y, Liu Y, Yu S, Xie H, Shi X, Qin S, Ma F, Tan TZ, Thiery JP, Chen L.
Oncotarget 5(17):7677-90. 2014
8TRPS1
Dual role of the Trps1 transcription factor in dentin mineralization.
Kuzynski M, Goss M, Bottini M, Yadav MC, Mobley C, Winters T, Poliard A, Kellermann O, Lee B, Millan JL, Napierala D.
J Biol Chem 289(40):27481-93. doi: 10.1074/jbc.M114.550129. Epub 2014 Aug 15. 2014
9HDAC1, HDAC4, TRPS1
The multi zinc-finger protein Trps1 acts as a regulator of histone deacetylation during mitosis.
Wuelling M, Pasdziernik M, Moll CN, Thiesen AM, Schneider S, Johannes C, Vortkamp A.
Cell Cycle 12(14):2219-32. doi: 10.4161/cc.25267. 2013
10TRPS1, TRPS2
Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.
Pereza N, Severinski S, Ostojić S, Volk M, Maver A, Dekanić KB, Kapović M, Peterlin B.
Am J Med Genet A 158A(3):659-63. doi: 10.1002/ajmg.a.35201. Epub 2012 Feb 7. 2012
11GATA3, HMMS, TRPS1
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B.
Nat Genet 44(6):709-13. doi: 10.1038/ng.2259. 2012
12CXCL12, GATA3, IRX5, TRPS1
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B.
Nat Genet 44(6):709-13. doi: 10.1038/ng.2259. 2012
13TRPS1
Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.
Fantauzzo KA, Christiano AM.
Development 139(1):203-14. doi: 10.1242/dev.069971. Epub 2011 Nov 24. 2012
14SOX9, TRPS1
Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis.
Fantauzzo KA, Kurban M, Levy B, Christiano AM.
PLoS Genet 8(11):e1003002. doi: 10.1371/journal.pgen.1003002. Epub 2012 Nov 1. 2012
15TRPS1
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.
Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE.
Am J Med Genet A 152A(8):2115-9. doi: 10.1002/ajmg.a.33511. No abstract available. 2010
16TRPS1, TRPS3
Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.
Piccione M, Niceta M, Antona V, Di Fiore A, Cariola F, Gentile M, Corsello G.
Am J Med Genet A 149A(8):1837-41. No abstract available. PMID: 19610100 2009
17TRPS1
Identification of the GATA factor TRPS1 as a repressor of the osteocalcin promoter.
Piscopo DM, Johansen EB, Derynck R.
J Biol Chem 284(46):31690-703. Epub 2009 Sep 15. 2009
18RUNX2, TRPS1
Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.
Napierala D, Sam K, Morello R, Zheng Q, Munivez E, Shivdasani RA, Lee B.
Hum Mol Genet 17(14):2244-54. Epub 2008 Apr 17. 2008
19PRPS1, TRPS1
Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling.
Fantauzzo KA, Bazzi H, Jahoda CA, Christiano AM.
Gene Expr Patterns 8(2):51-7. Epub 2007 Oct 25. 2008
20HTC1, TRPS1
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.
Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM.
Hum Mol Genet 17(22):3539-51. Epub 2008 Aug 19. 2008
21TRPS1, TRPS1
Tricho-rhino-phalangeal syndrome with supernumerary teeth.
Kantaputra P, Miletich I, Lüdecke HJ, Suzuki EY, Praphanphoj V, Shivdasani R, Wuelling M, Vortkamp A, Napierala D, Sharpe PT.
J Dent Res 87(11):1027-31. 2008
22GDF5, TRPS1
Trps1 plays a pivotal role downstream of Gdf5 signaling in promoting chondrogenesis and apoptosis of ATDC5 cells.
Itoh S, Kanno S, Gai Z, Suemoto H, Kawakatsu M, Tanishima H, Morimoto Y, Nishioka K, Hatamura I, Yoshida M, Muragaki Y.
Genes Cells 13(4):355-63.PMID: 18363966 2008
23TRPS1
Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I.
Rossi A, Devirgiliis V, Panasiti V, Borroni RG, Carlesimo M, Gentile M, Cariola F, Calvieri S.
Br J Dermatol 157(5):1021-4. Epub 2007 Sep 13. 2007
24TRPS1
SUMOylation modulates transcriptional repression by TRPS1.
Kaiser FJ, Lüdecke HJ, Weger S.
Biol Chem 388(4):381-90. 2007
25STAT3, TRPS1
Trps1 regulates proliferation and apoptosis of chondrocytes through Stat3 signaling.
Suemoto H, Muragaki Y, Nishioka K, Sato M, Ooshima A, Itoh S, Hatamura I, Ozaki M, Braun A, Gustafsson E, Fässler R.
Dev Biol 312(2):572-81. Epub 2007 Oct 10.PMID: 17997399 2007
26TRPS1, IRX5, CYP4Z1, FSIP1, FOXA1, ANKRD30A
The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer.
Radvanyi L, Singh-Sandhu D, Gallichan S, Lovitt C, Pedyczak A, Mallo G, Gish K, Kwok K, Hanna W, Zubovits J, Armes J, Venter D, Hakimi J, Shortreed J, Donovan M, Parrington M, Dunn P, Oomen R, Tartaglia J, Berinstein NL.
Proc Natl Acad Sci U S A 102(31):11005-10. Epub 2005 Jul 25. 2005
27TRPS1, TRPS3
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
Kaiser FJ, Brega P, Raff ML, Byers PH, Gallati S, Kay TT, de Almeida S, Horsthemke B, Ludecke HJ.
Eur J Hum Genet 12(2):121-6. 2004
28EIF3H,MYC,TRPS1
Expression and copy number analysis of TRPS1, EIF3S3 and MYC genes in breast and prostate cancer.
Savinainen KJ, Linja MJ, Saramaki OR, Tammela TL, Chang GT, Brinkmann AO, Visakorpi T.
Br J Cancer 90(5):1041-6. 2004
29DYNLL1, TRPS1
Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1.
Kaiser FJ, Tavassoli K, Van den Bemd GJ, Chang GT, Horsthemke B, Moroy T, Ludecke HJ.
Hum Mol Genet 12(11):1349-58. 2003
30TRPS1
Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.
Kobayashi H, Hino M, Shimodahira M, Iwakura T, Ishihara T, Ikekubo K, Ogawa Y, Nakao K, Kurahachi H.
Am J Med Genet 107(1):26-9. 2002
31TRPS1
Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene.
Chang GT, van den Bemd GJ, Jhamai M, Brinkmann AO.
Apoptosis 7(1):13-21. Review. 2002
32TRPS1
Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes.
Malik TH, Von Stechow D, Bronson RT, Shivdasani RA.
Mol Cell Biol 22(24):8592-600. 2002
33HTC1, TRPS1, TRPS2
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L.
Am J Med Genet 113(4):326-32. 2002
34TRPS1, TRPS3
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Ludecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plochl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B.
Am J Hum Genet 68(1):81-91. 2001
35TRPS1
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
Momeni P, Glockner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Ludecke HJ.
Nat Genet 24(1):71-4 2000
36EIF3H,TRPS1,TRPS2
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.
Ludecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B.
Hum Genet 105(6):619-28 1999
37TRPS1
A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region.
Brandt CA, Ludecke HJ, Hindkjaer J, Stromkjaer H, Pinkel D, Herlin T, Bolund L, Friedrich U.
Hum Genet 100(3-4):334-8. 1997
38BOR1, TRPS1
Detection of a megabase deletion in a patient with Branchio-Oto-Renal Syndrome (BOR) and Tricho-Rhino-Phalangeal syndrome (TRPS) : implications for mapping and cloning the BOR gene.
Gu JZ, et al.
Genomics 31 : 201-206. 1996
39EXT1, TRPS1, TRPS2
A 4-Megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1 : use in refining the location of the Trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).
Hou J, Parrish J, Ludecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF, et al.
Genomics 29 : 87-97. 1995
40TRPS2, TRPS1, EXT1
Molecular dissection of a contiguous gene syndrome : localization of the genes involved in the Langer-Giedion syndrome.
LŸdecke HJ, et al.
Hum Mol Genet 4 : 31-36. 1995
41TRPS1
Tricho-rhino-phalangeal syndrome type I (TRPI) due to an apparently balanced translocation involving 8q24.
Marchau FE, et al.
Am J Med Genet 45 : 450-455. 1993
42TRPS1
Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.
Hamers A, et al.
Eur J Pediatr 149 : 618-620. 1990
43TRPS1
Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.
Yamamoto Y, et al.
Am J Med Genet 32 : 133-135. 1989
44TRPS1
Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I.
Yamamoto Y, Oguro N, Miyao M, Yanagisawa M, Ohsawa T.
Am J Med Genet 32 : 524-527. 1989
45TRPS1
Partial trisomy of distal 8q derived from mother with mosaic 8q23.3-24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.
Naritomi K, et al.
Hum Genet 82 : 199-201. 1989
46TRPS2, TRPS1
A final word on the tricho-rhino-phalangeal syndromes.
BŸhler EM, et al.
Clin Genet 31 : 273-275. 1987
47TRPS1
Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23.
Goldblatt J, et al.
Clin Genet 29 : 434-438. 1986
48TRPS2, TRPS1
The tricho-rhino-phalangeal syndrome(s) : chromosome 8 long arm deletion is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?
BŸhler EM, et al.
Am J Med Genet 19 : 113-119. 1984
49TRPS2, TRPS1
Small structural changes of chromosome 8.
Beighle C, et al.
Hum Genet 38 : 113-121. 1977