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Results: 1 to 20 of 107

1.

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. 2008 Nov 15;17(22):3539-51. doi: 10.1093/hmg/ddn247. Epub 2008 Aug 19.

PMID:
18713754
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.

Tadin-Strapps M, Warburton D, Baumeister FA, Fischer SG, Yonan J, Gilliam TC, Christiano AM.

Cytogenet Genome Res. 2004;107(1-2):68-76.

PMID:
15305058
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
19772620
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

Crippa M, Bestetti I, Perotti M, Castronovo C, Tabano S, Picinelli C, Grassi G, Larizza L, Pincelli AI, Finelli P.

BMC Med Genet. 2014 May 2;15:52. doi: 10.1186/1471-2350-15-52.

PMID:
24886451
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
23133399
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome.

Tadin M, Braverman E, Cianfarani S, Sobrino AJ, Levy B, Christiano AM, Warburton D.

Am J Med Genet. 2001 Jul 22;102(1):100-4.

PMID:
11471181
[PubMed - indexed for MEDLINE]
7.

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. 2008 Jan;8(2):51-7. Epub 2007 Oct 25.

PMID:
18054290
[PubMed - indexed for MEDLINE]
8.

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

David D, Marques B, Ferreira C, Araújo C, Vieira L, Soares G, Dias C, Pinto M.

Hum Genet. 2013 Nov;132(11):1287-99. doi: 10.1007/s00439-013-1333-0. Epub 2013 Jul 9.

PMID:
23835950
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
22115758
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Identification of the GATA factor TRPS1 as a repressor of the osteocalcin promoter.

Piscopo DM, Johansen EB, Derynck R.

J Biol Chem. 2009 Nov 13;284(46):31690-703. doi: 10.1074/jbc.M109.052316. Epub 2009 Sep 15.

PMID:
19759027
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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. 2002 Dec;22(24):8592-600.

PMID:
12446778
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.

Gai Z, Gui T, Muragaki Y.

Histol Histopathol. 2011 Jul;26(7):915-21. Review.

PMID:
21630221
[PubMed - indexed for MEDLINE]
13.

A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)

Balducci R, Toscano V, Tedeschi B, Mangiantini A, Toscano R, Galasso C, Cianfarani S, Boscherini B.

Clin Genet. 1998 Jun;53(6):466-8.

PMID:
9712536
[PubMed - indexed for MEDLINE]
14.

Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)

Baumeister FA, Egger J, Schildhauer MT, Stengel-Rutkowski S.

Clin Genet. 1993 Sep;44(3):121-8. Review.

PMID:
8275569
[PubMed - indexed for MEDLINE]
15.

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. 2012 Mar;158A(3):659-63. doi: 10.1002/ajmg.a.35201. Epub 2012 Feb 7.

PMID:
22315192
[PubMed - indexed for MEDLINE]
16.

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P.

Am J Hum Genet. 2005 Apr;76(4):652-62. Epub 2005 Feb 22.

PMID:
15726498
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Lüdecke 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, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B.

Am J Hum Genet. 2001 Jan;68(1):81-91. Epub 2000 Dec 7.

PMID:
11112658
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Concurrent transcriptional deregulation of AML1/RUNX1 and GATA factors by the AML1-TRPS1 chimeric gene in t(8;21)(q24;q22) acute myeloid leukemia.

Asou N, Yanagida M, Huang L, Yamamoto M, Shigesada K, Mitsuya H, Ito Y, Osato M.

Blood. 2007 May 1;109(9):4023-7. Epub 2007 Jan 23.

PMID:
17244685
[PubMed - indexed for MEDLINE]
Free Article
19.

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. 2008 Nov;87(11):1027-31.

PMID:
18946009
[PubMed - indexed for MEDLINE]
20.

Diagnosis of Ambras syndrome: comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome.

Baumeister FA.

Am J Med Genet. 2002 Apr 15;109(1):77-8. No abstract available.

PMID:
11932999
[PubMed - indexed for MEDLINE]

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