PMC Links for Protein (Select 238231392) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 65956792.

DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan

Lika’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa, Yusuke Okuno

BMC Med Genet. 2019; 20: 114. Published online 2019 Jun 26. doi: 10.1186/s12881-019-0837-4

PMCID:: PMC6595679

Abstract Article PDF–4.1M

Select item 62862533.

Expanded skin virome in DOCK8-deficient patients

Osnat Tirosh, Sean Conlan, Clay Deming, Shih-Queen Lee-Lin, Xin Huang, NISC Comparative Sequencing Program, Helen C. Su, Alexandra F. Freeman, Julia A. Segre, Heidi H. Kong

Nat Med. 2018; 24(12): 1815–1821. Published online 2018 Nov 5. doi: 10.1038/s41591-018-0211-7

PMCID:: PMC6286253

Abstract Article PDF–1.3M

Select item 60981504.

Interaction of septin 7 and DOCK8 in equine lymphocytes reveals novel insights into signaling pathways associated with autoimmunity

Melanie Schauer, Kristina J. H. Kleinwort, Roxane L. Degroote, Carmen Wiedemann, Elisabeth Kremmer, Stefanie M. Hauck, Cornelia A. Deeg

Sci Rep. 2018; 8: 12332. Published online 2018 Aug 17. doi: 10.1038/s41598-018-30753-7

PMCID:: PMC6098150

Abstract Article PDF–1.6M

Select item 22459915.

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

Bradley L Griggs, Sydney Ladd, Robert A Saul, Barbara R DuPont, Anand K Srivastava

Genomics. Author manuscript; available in PMC 2009 Feb 1.

Published in final edited form as: Genomics. 2008 Feb; 91(2): 195–202. Published online 2007 Dec 3. doi: 10.1016/j.ygeno.2007.10.011

PMCID:: PMC2245991

Abstract Article PDF–1016K

Select item 61173536.

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Núria Camats, Mónica Fernández-Cancio, Laura Audí, André Schaller, Christa E. Flück

Eur J Hum Genet. 2018 Sep; 26(9): 1329–1338. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0202-7

PMCID:: PMC6117353

Abstract Article PDF–1.2M

Select item 38410757.

DOCK8 Interacts with Talin and WASPto Regulate Natural Killer Cell Cytotoxicity

Hyoungjun Ham, Sabrice Guerrier, JungJin Kim, Renee A. Schoon, Erik L. Anderson, Michael J. Hamann, Zhenkun Lou, Daniel D. Billadeau

J Immunol. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: J Immunol. 2013 Apr 1; 190(7): 10.4049/jimmunol.1202792. Published online 2013 Mar 1. doi: 10.4049/jimmunol.1202792

PMCID:: PMC3841075

Abstract Article PDF–2.9M

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