PMC Links for Protein (Select 46370066) - PMC - NCBI

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Items: 11

Select item 67331541.

EXT1, Regulated by MiR-665, Promotes Cell Apoptosis via ERK1/2 Signaling Pathway in Acute Lymphoblastic Leukemia

Na-wei Liu, Xin Huang, Shuang Liu, Yue Lu

Med Sci Monit. 2019; 25: 6491–6503. Published online 2019 Aug 29. doi: 10.12659/MSM.918295

PMCID:: PMC6733154

Abstract Article PDF–2.3M

Select item 63650382.

A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses

Xiaoyan Guo, Mingrui Lin, Wei Yan, Wenxu Chen, Guolin Hong

Int J Oncol. 2019 Mar; 54(3): 859–868. Published online 2019 Jan 16. doi: 10.3892/ijo.2019.4688

PMCID:: PMC6365038

Abstract Article PDF–1.2M

Select item 16822313.

Genetic heterogeneity in families with hereditary multiple exostoses

April Cook, Wendy Raskind, Susan Halloran Blanton, Richard M. Pauli, Ronald G. Gregg, Claire A. Francomano, Eric Puffenberger, Ernest U. Conrad, Gregory Schmale, Gerard Schellenberg, Ellen Wijsman, Jacqueline T. Hecht, Dan Wells, Michael J. Wagner

Am J Hum Genet. 1993 Jul; 53(1): 71–79.

PMCID:: PMC1682231

Summary Page Browse PDF–1.0M

Select item 10171694.

Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

R F Ogle, P Dalzell, G Turner, D Wass, M Y Yip

J Med Genet. 1991 Dec; 28(12): 881–883. doi: 10.1136/jmg.28.12.881

PMCID:: PMC1017169

Summary Page Browse PDF–514K

Select item 66769095.

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

Gloria T. Haskell, Brian C. Jensen, Cecile Skrzynia, Thelsa Pulikkotil, Christian R. Tilley, Yurong Lu, Daniel S. Marchuk, Leigh Ann Samsa, Kirk C. Wilhelmsen, Ethan Lange, Cam Patterson, James P. Evans, Jonathan S. Berg

J Heart Valve Dis. Author manuscript; available in PMC 2019 Aug 2.

Published in final edited form as: J Heart Valve Dis. 2017 Sep; 26(5): 569–580.

PMCID:: PMC6676909

Abstract Article PDF–1.8M

Select item 60144576.

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

Savana C. L. Santos, Isabela M. P. O. Rizzo, Reinaldo I. Takata, Carlos E. Speck‐Martins, Jaime M. Brum, Claudio Sollaci

Mol Genet Genomic Med. 2018 May; 6(3): 382–392. Published online 2018 Mar 12. doi: 10.1002/mgg3.382

PMCID:: PMC6014457

Abstract Article PDF–1004K

Select item 58359067.

Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma

Weiwei Ruan, Li Cao, Zhonghua Chen, Mingxiang Kong, Qing Bi

Oncol Lett. 2018 Apr; 15(4): 4383–4389. Published online 2018 Jan 22. doi: 10.3892/ol.2018.7838

PMCID:: PMC5835906

Abstract Article PDF–1.3M

Select item 52217588.

Functional Requirements for Heparan Sulfate Biosynthesis in Morphogenesis and Nervous System Development in C. elegans

Cassandra R. Blanchette, Andrea Thackeray, Paola N. Perrat, Siegfried Hekimi, Claire Y. Bénard

PLoS Genet. 2017 Jan; 13(1): e1006525. Published online 2017 Jan 9. doi: 10.1371/journal.pgen.1006525

PMCID:: PMC5221758

Abstract Article PDF–4.0M

Select item 47233729.

Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members

Lei Zhuang, Simon D. Gerber, Stefan Kuchen, Peter M. Villiger, Beat Trueb

Springerplus. 2016; 5: 71. Published online 2016 Jan 22. doi: 10.1186/s40064-016-1695-6

PMCID:: PMC4723372

Abstract Article PDF–1.2M

Select item 352596710.

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Guojie Zhang, Zhang Pei, Edward V Ball, Matthew Mort, Hildegard Kehrer-Sawatzki, David N Cooper

Hum Genomics. 2011; 5(5): 453–484. Published online 2011 Jul 1. doi: 10.1186/1479-7364-5-5-453

PMCID:: PMC3525967

Abstract Article PDF–194K

Select item 38331111.

Identification of Rat Genes by TWINSCAN Gene Prediction, RT–PCR, and Direct Sequencing

Jia Qian Wu, David Shteynberg, Manimozhiyan Arumugam, Richard A. Gibbs, Michael R. Brent

Genome Res. 2004 Apr; 14(4): 665–671. doi: 10.1101/gr.1959604

PMCID:: PMC383311

Abstract Article PDF–127K

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