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Links from Nucleotide

Items: 12

1.
Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene
Sandra Supraha Goreta, Sanja Dabelic, Dinko Pavlinic, Gordan Lauc, Jerka Dumic
Genet Test Mol Biomarkers. 2012 Jan; 16(1): 50–53. doi: 10.1089/gtmb.2011.0093
PMCID:
PMC3265770
AbstractArticlePDF–209K
2.
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
P Burda, L Borsig, J de Rijk-van Andel, R Wevers, J Jaeken, H Carchon, E G Berger, M Aebi
J Clin Invest. 1998 Aug 15; 102(4): 647–652. doi: 10.1172/JCI2266
PMCID:
PMC508925
SummaryPDF–209K
3.
Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
Christian Körner, Roland Knauer, Ulrike Holzbach, Folker Hanefeld, Ludwig Lehle, Kurt von Figura
Proc Natl Acad Sci U S A. 1998 Oct 27; 95(22): 13200–13205. doi: 10.1073/pnas.95.22.13200
PMCID:
PMC23759
AbstractArticlePDF–260K
4.
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
Timo Imbach, Patricie Burda, Peter Kuhnert, Ron A. Wevers, Markus Aebi, Eric G. Berger, Thierry Hennet
Proc Natl Acad Sci U S A. 1999 Jun 8; 96(12): 6982–6987. doi: 10.1073/pnas.96.12.6982
PMCID:
PMC22030
AbstractArticlePDF–265K
5.
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations
Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu
Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31
PMCID:
PMC6995733
AbstractArticlePDF–1.1M
6.
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz
Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2
PMCID:
PMC6660700
AbstractArticlePDF–980K
7.
Induction of sestrin 2 is associated with fisetin-mediated apoptosis in human head and neck cancer cell lines
Dong-Hoon Won, Shin Hye Chung, Ji-Ae Shin, Kyoung-Ok Hong, In-Hyoung Yang, Jun-Won Yun, Sung-Dae Cho
J Clin Biochem Nutr. 2019 Mar; 64(2): 97–105. Published online 2018 Oct 13. doi: 10.3164/jcbn.18-63
PMCID:
PMC6436036
AbstractArticlePDF–942K
8.
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
S. Sabry, S. Vuillaumier-Barrot, E. Mintet, M. Fasseu, V. Valayannopoulos, D. Héron, N. Dorison, C. Mignot, N. Seta, I. Chantret, T. Dupré, S. E. H. Moore
Orphanet J Rare Dis. 2016; 11: 84. Published online 2016 Jun 24. doi: 10.1186/s13023-016-0468-1
PMCID:
PMC4919849
AbstractArticlePDF–1.9M
9.
Quantitative Analysis of Glycans, Related Genes, and Proteins in Two Human Bone Marrow Stromal Cell Lines using an Integrated Strategy
Xiang Li, Dongliang Li, Xingchen Pang, Ganglong Yang, H. Joachim Deeg, Feng Guan
Exp Hematol. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Exp Hematol. 2015 Sep; 43(9): 760–9.e7. Published online 2015 May 1. doi: 10.1016/j.exphem.2015.04.009
PMCID:
PMC4780331
AbstractArticlePDF–1.5M
10.
CD38/CD31 interactions activate genetic pathways leading to proliferation and migration in chronic lymphocytic leukemia cells
Silvia Deaglio, Semra Aydin, Maurizia Mello Grand, Tiziana Vaisitti, Luciana Bergui, Giovanni D’Arena, Giovanna Chiorino, Fabio Malavasi
Mol Med. 2010 Mar-Apr; 16(3-4): 87–91. Published online 2009 Nov 28. doi: 10.2119/molmed.2009.00146
PMCID:
PMC2785473
AbstractArticlePDF–245K
11.
Evidence that molecular changes in cells occur before morphological alterations during the progression of breast ductal carcinoma
Nadia P Castro, Cynthia ABT Osório, César Torres, Elen P Bastos, Mário Mourão-Neto, Fernando A Soares, Helena P Brentani, Dirce M Carraro
Breast Cancer Res. 2008; 10(5): R87. Published online 2008 Oct 17. doi: 10.1186/bcr2157
PMCID:
PMC2614523
AbstractArticlePDF–1.0M
12.
Macrophage-Derived Simian Immunodeficiency Virus Exhibits Enhanced Infectivity by Comparison with T-Cell-Derived Virus
Peter J. Gaskill, Michelle Zandonatti, Tim Gilmartin, Steven R. Head, Howard S. Fox
J Virol. 2008 Feb; 82(3): 1615–1621. Published online 2007 Nov 28. doi: 10.1128/JVI.01757-07
PMCID:
PMC2224434
AbstractArticlePDF–595K

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