PMC Links for Nucleotide (Select 974005615) - PMC

Select item 41541311.

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

Bum-Ho Bin, Shintaro Hojyo, Toshiaki Hosaka, Jinhyuk Bhin, Hiroki Kano, Tomohiro Miyai, Mariko Ikeda, Tomomi Kimura-Someya, Mikako Shirouzu, Eun-Gyung Cho, Kazuhisa Fukue, Taiho Kambe, Wakana Ohashi, Kyu-Han Kim, Juyeon Seo, Dong-Hwa Choi, Yeon-Ju Nam, Daehee Hwang, Ayako Fukunaka, Yoshio Fujitani, Shigeyuki Yokoyama, Andrea Superti-Furga, Shiro Ikegawa, Tae Ryong Lee, Toshiyuki Fukada

EMBO Mol Med. 2014 Aug; 6(8): 1028–1042. Published online 2014 Jul 9. doi: 10.15252/emmm.201303809

PMCID:: PMC4154131

Abstract Article PDF–1.5M

Select item 41301622.

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

Guiran Xiao, Zhihui Wan, Qiangwang Fan, Xiaona Tang, Bing Zhou

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

PMCID:: PMC4130162

Abstract Article PDF–2.9M

Select item 35290933.

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

Jeeyon Jeong, Joel M. Walker, Fudi Wang, J. Genevieve Park, Amy E. Palmer, Cecilia Giunta, Marianne Rohrbach, Beat Steinmann, David J. Eide

Proc Natl Acad Sci U S A. 2012 Dec 18; 109(51): E3530–E3538. Published online 2012 Dec 3. doi: 10.1073/pnas.1211775110

PMCID:: PMC3529093

Abstract Article PDF–1.3M

Select item 32205514.

Biochemical Characterization of Human ZIP13 Protein: A HOMO-DIMERIZED ZINC TRANSPORTER INVOLVED IN THE SPONDYLOCHEIRO DYSPLASTIC EHLERS-DANLOS SYNDROME

Bum-Ho Bin, Toshiyuki Fukada, Toshiaki Hosaka, Satoru Yamasaki, Wakana Ohashi, Shintaro Hojyo, Tomohiro Miyai, Keigo Nishida, Shigeyuki Yokoyama, Toshio Hirano

J Biol Chem. 2011 Nov 18; 286(46): 40255–40265. Published online 2011 Sep 14. doi: 10.1074/jbc.M111.256784

PMCID:: PMC3220551

Abstract Article PDF–2.7M

Select item 31405805.

Mutational Analysis of 12 Patients with the Phenotype of Ehlers-Danlos Syndrome Type VIB Shows no Linkage to the Zinc Transporter Gene SLC39A13

Linda C. Walker, Elizabeth M. Ju, Heather N. Yeowell

Am J Med Genet A. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Am J Med Genet A. 2011 Aug; 155(8): 2011–2014. Published online 2011 Jul 7. doi: 10.1002/ajmg.a.34064

PMCID:: PMC3140580

Article PDF–304K

Select item 25754166.

The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloisa G. dos Santos, Luisa Bonafe, Russia Ha-Vinh, Andreas Zankl, Sheila Unger, Marius E. Kraenzlin, Jacques S. Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti-Furga, Toshio Hirano

PLoS One. 2008; 3(11): e3642. Published online 2008 Nov 5. doi: 10.1371/journal.pone.0003642

Correction in:: PLoS One. 2008; 3(11): 10.1371/annotation/a6c35a12-e8eb-43a0-9d00-5078fa6da1bb.

PMCID:: PMC2575416

Abstract Article PDF–677K

Select item 24272717.

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Cecilia Giunta, Nursel H. Elçioglu, Beate Albrecht, Georg Eich, Céline Chambaz, Andreas R. Janecke, Heather Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann

Am J Hum Genet. 2008 Jun 6; 82(6): 1290–1305. Published online 2008 May 30. doi: 10.1016/j.ajhg.2008.05.001

PMCID:: PMC2427271

Abstract Article PDF–1.4M

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