Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 2 |
2013 | 3 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
Hum Mol Genet. 2013 Jul 15;22(14):2914-28. doi: 10.1093/hmg/ddt146. Epub 2013 Apr 10.
Hum Mol Genet. 2013.
PMID: 23575229
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells.
Demaegd D, Foulquier F, Colinet AS, Gremillon L, Legrand D, Mariot P, Peiter E, Van Schaftingen E, Matthijs G, Morsomme P.
Demaegd D, et al.
Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):6859-64. doi: 10.1073/pnas.1219871110. Epub 2013 Apr 8.
Proc Natl Acad Sci U S A. 2013.
PMID: 23569283
Free PMC article.
Item in Clipboard
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
Zeevaert R, de Zegher F, Sturiale L, Garozzo D, Smet M, Moens M, Matthijs G, Jaeken J.
Zeevaert R, et al.
JIMD Rep. 2013;8:145-52. doi: 10.1007/8904_2012_172. Epub 2012 Aug 22.
JIMD Rep. 2013.
PMID: 23430531
Free PMC article.
Item in Clipboard
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G.
Foulquier F, et al.
Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7.
Am J Hum Genet. 2012.
PMID: 22683087
Free PMC article.
Item in Clipboard
Cite
Cite