Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 104

Similar articles for PubMed (Select 21739577)

1.

Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.

Walker LC, Ju EM, Yeowell HN.

Am J Med Genet A. 2011 Aug;155A(8):2011-4. doi: 10.1002/ajmg.a.34064. Epub 2011 Jul 7. No abstract available.

2.

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.

Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, Hojyo S, Nakayama M, Ohara O, Koseki H, Dos Santos HG, Bonafe L, Ha-Vinh R, Zankl A, Unger S, Kraenzlin ME, Beckmann JS, Saito I, Rivolta C, Ikegawa S, Superti-Furga A, Hirano T.

PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5. Erratum in: PLoS One. 2008;3(11). doi: 10.1371/annotation/a6c35a12-e8eb-43a0-9d00-5078fa6da1bb.

3.

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.

Giunta C, Elçioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, Steinmann B.

Am J Hum Genet. 2008 Jun;82(6):1290-305. doi: 10.1016/j.ajhg.2008.05.001.

4.

Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome.

Bin BH, Fukada T, Hosaka T, Yamasaki S, Ohashi W, Hojyo S, Miyai T, Nishida K, Yokoyama S, Hirano T.

J Biol Chem. 2011 Nov 18;286(46):40255-65. doi: 10.1074/jbc.M111.256784. Epub 2011 Sep 14.

5.

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.

Jeong J, Walker JM, Wang F, Park JG, Palmer AE, Giunta C, Rohrbach M, Steinmann B, Eide DJ.

Proc Natl Acad Sci U S A. 2012 Dec 18;109(51):E3530-8. doi: 10.1073/pnas.1211775110. Epub 2012 Dec 3.

6.

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.

Am J Hum Genet. 2001 Nov;69(5):989-1001. Epub 2001 Sep 27.

7.

A Zn-surprise in Ehlers-Danlos syndrome.

[No authors listed]

Matrix Biol. 2008 Jul;27(6):503-4. doi: 10.1016/j.matbio.2008.07.003. No abstract available.

PMID:
18675724
8.

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J.

N Engl J Med. 2001 Oct 18;345(16):1167-75.

9.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.

Neurology. 2005 Jan 25;64(2):254-62.

PMID:
15668422
10.

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A.

Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355.

PMID:
20842734
11.
12.

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.

Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN.

Am J Med Genet A. 2004 Dec 1;131(2):155-62.

PMID:
15523625
13.

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.

Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, Mitsuhashi Y, Isei T, Aoki Y, Yamazaki K, Ono M, Makino K, Tanaka T, Kunii E, Hatamochi A.

Br J Dermatol. 2010 Oct;163(4):704-10. doi: 10.1111/j.1365-2133.2010.09874.x.

PMID:
20518783
14.

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII.

Nicholls AC, Sher JL, Wright MJ, Oley C, Mueller RF, Pope FM.

J Med Genet. 2000 Nov;37(11):E33. No abstract available.

15.

Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.

Bin BH, Hojyo S, Hosaka T, Bhin J, Kano H, Miyai T, Ikeda M, Kimura-Someya T, Shirouzu M, Cho EG, Fukue K, Kambe T, Ohashi W, Kim KH, Seo J, Choi DH, Nam YJ, Hwang D, Fukunaka A, Fujitani Y, Yokoyama S, Superti-Furga A, Ikegawa S, Lee TR, Fukada T.

EMBO Mol Med. 2014 Jul 9;6(8):1028-42. doi: 10.15252/emmm.201303809.

16.
17.

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.

Drera B, Tadini G, Barlati S, Colombi M.

Clin Genet. 2008 Mar;73(3):290-3. Epub 2007 Dec 6. No abstract available.

PMID:
18070134
18.

The metal transporter ZIP13 supplies iron into the secretory pathway in Drosophila melanogaster.

Xiao G, Wan Z, Fan Q, Tang X, Zhou B.

Elife. 2014 Jul 8;3:e03191. doi: 10.7554/eLife.03191.

19.

A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.

Bateman JF, Chiodo AA, Weng YM, Chan D, Haan E.

Hum Mutat. 1998;Suppl 1:S257-9. No abstract available.

PMID:
9452103
20.

Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.

Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, Shinkai H, Kiuchi K, Tamura K, Shimada T, Takano T, Katayama Y.

J Intern Med. 2001 Jan;249(1):103-8.

PMID:
11168790
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk