PMC Links for Protein (Select 569026720) - PMC

Select item 65070481.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Long Guo, Débora Romeo Bertola, Asako Takanohashi, Asuka Saito, Yuko Segawa, Takanori Yokota, Satoru Ishibashi, Yoichiro Nishida, Guilherme Lopes Yamamoto, José Francisco da Silva Franco, Rachel Sayuri Honjo, Chong Ae Kim, Camila Manso Musso, Margaret Timmons, Amy Pizzino, Ryan J. Taft, Bryan Lajoie, Melanie A. Knight, Kenneth H. Fischbeck, Andrew B. Singleton, Carlos R. Ferreira, Zheng Wang, Li Yan, James Y. Garbern, Pelin O. Simsek-Kiper, Hirofumi Ohashi, Pamela G. Robey, Alan Boyde, Naomichi Matsumoto, Noriko Miyake, Jürgen Spranger, Raphael Schiffmann, Adeline Vanderver, Gen Nishimura, Maria Rita dos Santos Passos-Bueno, Cas Simons, Kinya Ishikawa, Shiro Ikegawa

Am J Hum Genet. 2019 May 2; 104(5): 925–935. Published online 2019 Apr 11. doi: 10.1016/j.ajhg.2019.03.004

PMCID:: PMC6507048

Abstract Article PDF–1.4M

Select item 64866192.

Dynamic gene regulation by nuclear colony-stimulating factor 1 receptor in human monocytes and macrophages

Laura Bencheikh, M’Boyba Khadija Diop, Julie Rivière, Aygun Imanci, Gerard Pierron, Sylvie Souquere, Audrey Naimo, Margot Morabito, Michaël Dussiot, Frédéric De Leeuw, Camille Lobry, Eric Solary, Nathalie Droin

Nat Commun. 2019; 10: 1935. Published online 2019 Apr 26. doi: 10.1038/s41467-019-09970-9

PMCID:: PMC6486619

Abstract Article PDF–4.4M

Select item 11320243.

Expression and characterization of the p85 subunit of the phosphatidylinositol 3-kinase complex and a related p85 beta protein by using the baculovirus expression system.

I Gout, R Dhand, G Panayotou, M J Fry, I Hiles, M Otsu, M D Waterfield

Biochem J. 1992 Dec 1; 288(Pt 2): 395–405. doi: 10.1042/bj2880395

PMCID:: PMC1132024

Summary Page Browse PDF–4.1M

Select item 46846974.

Whole Genome Sequencing of the Asian Arowana (Scleropages formosus) Provides Insights into the Evolution of Ray-Finned Fishes

Christopher M. Austin, Mun Hua Tan, Larry J. Croft, Michael P. Hammer, Han Ming Gan

Genome Biol Evol. 2015 Oct; 7(10): 2885–2895. Published online 2015 Oct 6. doi: 10.1093/gbe/evv186

PMCID:: PMC4684697

Abstract Article PDF–395K

Select item 43810345.

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants

I. Filges, I. Manokhina, M.S. Peñaherrera, D.E. McFadden, K. Louie, E. Nosova, J.M. Friedman, W.P. Robinson

Mol Hum Reprod. 2015 Apr; 21(4): 339–346. Published online 2014 Dec 11. doi: 10.1093/molehr/gau112

PMCID:: PMC4381034

Abstract Article PDF–150K

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