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Items: 1 to 20 of 82

1.

Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome.

Frank DU, Emechebe U, Thomas KR, Moon AM.

PLoS One. 2013 Jul 2;8(7):e67841. doi: 10.1371/journal.pone.0067841.

2.

The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development.

Ballim RD, Mendelsohn C, Papaioannou VE, Prince S.

Mol Biol Cell. 2012 Jun;23(12):2362-72. doi: 10.1091/mbc.E11-09-0790.

3.

TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.

Kumar P P, Franklin S, Emechebe U, Hu H, Moore B, Lehman C, Yandell M, Moon AM.

PLoS Genet. 2014 Mar 27;10(3):e1004247. doi: 10.1371/journal.pgen.1004247.

4.
5.

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB.

Am J Hum Genet. 1999 Jun;64(6):1550-62.

6.

Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.

Tanteles GA, Nicolaou N, Syrimis A, Metaxa R, Nicolaou M, Christophidou-Anastasiadou V, Skordis N.

Clin Dysmorphol. 2017 Apr;26(2):61-65. doi: 10.1097/MCD.0000000000000170.

PMID:
28145909
7.

TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53.

Platonova N, Scotti M, Babich P, Bertoli G, Mento E, Meneghini V, Egeo A, Zucchi I, Merlo GR.

Cell Tissue Res. 2007 May;328(2):301-16.

PMID:
17265068
8.

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R.

Eur J Hum Genet. 2006 Dec;14(12):1274-9.

9.

Diverse functional networks of Tbx3 in development and disease.

Washkowitz AJ, Gavrilov S, Begum S, Papaioannou VE.

Wiley Interdiscip Rev Syst Biol Med. 2012 May-Jun;4(3):273-83. doi: 10.1002/wsbm.1162.

10.

Lethal arrhythmias in Tbx3-deficient mice reveal extreme dosage sensitivity of cardiac conduction system function and homeostasis.

Frank DU, Carter KL, Thomas KR, Burr RM, Bakker ML, Coetzee WA, Tristani-Firouzi M, Bamshad MJ, Christoffels VM, Moon AM.

Proc Natl Acad Sci U S A. 2012 Jan 17;109(3):E154-63. doi: 10.1073/pnas.1115165109.

11.

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.

Bogarapu S, Bleyl SB, Calhoun A, Viskochil D, Saarel EV, Everitt MD, Frank DU.

Am J Med Genet A. 2014 May;164A(5):1304-9. doi: 10.1002/ajmg.a.36447.

PMID:
24664963
12.

The face of Ulnar Mammary syndrome?

Joss S, Kini U, Fisher R, Mundlos S, Prescott K, Newbury-Ecob R, Tolmie J.

Eur J Med Genet. 2011 May-Jun;54(3):301-5. doi: 10.1016/j.ejmg.2010.12.010.

PMID:
21199695
13.

Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway.

Jerome-Majewska LA, Jenkins GP, Ernstoff E, Zindy F, Sherr CJ, Papaioannou VE.

Dev Dyn. 2005 Dec;234(4):922-33.

14.

Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome.

Davenport TG, Jerome-Majewska LA, Papaioannou VE.

Development. 2003 May;130(10):2263-73.

15.

Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.

Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N.

Am J Med Genet. 2002 Jul 15;110(4):365-9.

PMID:
12116211
16.

Ulnar mammary syndrome.

Ramirez RN, Kozin SH.

J Hand Surg Am. 2014 Apr;39(4):803-5. doi: 10.1016/j.jhsa.2014.01.024. No abstract available.

PMID:
24679913
17.

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.

Alby C, Bessieres B, Bieth E, Attie-Bitach T, Fermont L, Citony I, Razavi F, Vekemans M, Escande F, Manouvrier S, Malan V, Amiel J.

Am J Med Genet A. 2013 Jul;161A(7):1797-802. doi: 10.1002/ajmg.a.36054.

PMID:
23713051
18.

Ulnar Mammary syndrome and TBX3: expanding the phenotype.

Linden H, Williams R, King J, Blair E, Kini U.

Am J Med Genet A. 2009 Dec;149A(12):2809-12. doi: 10.1002/ajmg.a.33096.

PMID:
19938096
20.

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