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Items: 15


Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association.

Bubna AK, Veeraraghavan M, Anandan S, Rangarajan S.

Int J Trichology. 2015 Apr-Jun;7(2):67-71. doi: 10.4103/0974-7753.160113.


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. 2014 Oct 3;289(40):27481-93. doi: 10.1074/jbc.M114.550129. Epub 2014 Aug 15.


Association of TRPS1 gene with different EMT markers in ERα-positive and ERα-negative breast cancer.

Su P, Hu J, Zhang H, Jia M, Li W, Jing X, Zhou G.

Diagn Pathol. 2014 Jun 16;9:119. doi: 10.1186/1746-1596-9-119.


Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM.

PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014.


To grow or not to grow: hair morphogenesis and human genetic hair disorders.

Duverger O, Morasso MI.

Semin Cell Dev Biol. 2014 Jan-Feb;25-26:22-33. doi: 10.1016/j.semcdb.2013.12.006. Epub 2013 Dec 17. Review.


Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.

DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):7790-5. doi: 10.1073/pnas.1216412110. Epub 2013 Apr 19.


Differentiating inbred mouse strains from each other and those with single gene mutations using hair proteomics.

Rice RH, Bradshaw KM, Durbin-Johnson BP, Rocke DM, Eigenheer RA, Phinney BS, Sundberg JP.

PLoS One. 2012;7(12):e51956. doi: 10.1371/journal.pone.0051956. Epub 2012 Dec 14.


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. 2012;8(11):e1003002. doi: 10.1371/journal.pgen.1003002. Epub 2012 Nov 1.


Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice.

Napierala D, Sun Y, Maciejewska I, Bertin TK, Dawson B, D'Souza R, Qin C, Lee B.

J Bone Miner Res. 2012 Aug;27(8):1735-45. doi: 10.1002/jbmr.1636.


Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.

Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.

Dermatology. 2011;223(4):316-20. doi: 10.1159/000333800. Epub 2012 Feb 3.


Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.

Fantauzzo KA, Christiano AM.

Development. 2012 Jan;139(1):203-14. doi: 10.1242/dev.069971. Epub 2011 Nov 24.


X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.

Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L, Patel PI, Jing T, Zhang X.

Am J Hum Genet. 2011 Jun 10;88(6):819-26. doi: 10.1016/j.ajhg.2011.05.004.


A whole genome Bayesian scan for adaptive genetic divergence in West African cattle.

Gautier M, Flori L, Riebler A, Jaffrézic F, Laloé D, Gut I, Moazami-Goudarzi K, Foulley JL.

BMC Genomics. 2009 Nov 21;10:550. doi: 10.1186/1471-2164-10-550.


Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities.

Katayama K, Miyamoto S, Furuno A, Akiyama K, Takahashi S, Suzuki H, Tsuji T, Kunieda T.

BMC Genet. 2009 Sep 22;10:60. doi: 10.1186/1471-2156-10-60.


Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.

Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, Shi Y, Li X, Hao J, Luo Y, Shang D, Lv D, Ma F, Zhang D, Hua R, Lu C, Wen Y, Cao L, Irvine AD, McLean WH, Dong Q, Wang MR, Yu J, He L, Lo WH, Zhang X.

Am J Hum Genet. 2009 Jun;84(6):807-13. doi: 10.1016/j.ajhg.2009.04.018. Epub 2009 May 21.

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