PMC Links for OMIM (Select 189980) - PMC - NCBI

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Items: 11

Select item 53739871.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Xia Wang, Wu-Lin Charng, Chun-An Chen, Jill A. Rosenfeld, Aisha Al Shamsi, Lihadh Al-Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L. Arnold, Chunjing Qu, Yan Ding, Donna M. Muzny, Richard A. Gibbs, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Sharon E. Plon, James R. Lupski, Christian P. Schaaf, Yaping Yang

Nat Genet. Author manuscript; available in PMC 2017 Sep 13.

Published in final edited form as: Nat Genet. 2017 Apr; 49(4): 613–617. Published online 2017 Mar 13. doi: 10.1038/ng.3815

PMCID:: PMC5373987

Abstract Article PDF–1.4M

Select item 33087842.

NOX5 in Human Spermatozoa: EXPRESSION, FUNCTION, AND REGULATION

Boris Musset, Robert A. Clark, Thomas E. DeCoursey, Gabor L. Petheo, Miklos Geiszt, Yumin Chen, John E. Cornell, Carlton A. Eddy, Robert G. Brzyski, Amina El Jamali

J Biol Chem. 2012 Mar 16; 287(12): 9376–9388. Published online 2012 Jan 30. doi: 10.1074/jbc.M111.314955

PMCID:: PMC3308784

Abstract Article PDF–2.3M

Select item 29462313.

Hedgehog signalling is essential for maintenance of cancer stem cells in myeloid leukaemia

Chen Zhao, Alan Chen, Catriona H. Jamieson, Mark Fereshteh, Annelie Abrahamsson, Jordan Blum, Hyog Young Kwon, Jynho Kim, John P. Chute, David Rizzieri, Michael Munchhof, Todd VanArsdale, Philip A. Beachy, Tannishtha Reya

Nature. Author manuscript; available in PMC 2010 Sep 27.

Published in final edited form as: Nature. 2009 Apr 9; 458(7239): 776–779. doi: 10.1038/nature07737

Correction in:: volume 460 on page 652

PMCID:: PMC2946231

Abstract Article PDF–1.0M

Select item 21380484.

PSTPIP: A Tyrosine Phosphorylated Cleavage Furrow–associated Protein that Is a Substrate for a PEST Tyrosine Phosphatase

Susan Spencer, Donald Dowbenko, Jill Cheng, Wenlu Li, Jennifer Brush, Suzan Utzig, Viesturs Simanis, Laurence A. Lasky

J Cell Biol. 1997 Aug 25; 138(4): 845–860. doi: 10.1083/jcb.138.4.845

PMCID:: PMC2138048

Abstract Article PDF–10M

Select item 3973625.

Cell lines and clinical isolates derived from Ph1-positive chronic myelogenous leukemia patients express c-abl proteins with a common structural alteration.

J B Konopka, S M Watanabe, J W Singer, S J Collins, O N Witte

Proc Natl Acad Sci U S A. 1985 Mar; 82(6): 1810–1814. doi: 10.1073/pnas.82.6.1810

PMCID:: PMC397362

Summary Page Browse PDF–1.3M

Select item 3915136.

Chromosomal localization and characterization of c-abl in the t(6;9) of acute nonlymphocytic leukemia.

C A Westbrook, M M Le Beau, M O Diaz, J Groffen, J D Rowley

Proc Natl Acad Sci U S A. 1985 Dec; 82(24): 8742–8746. doi: 10.1073/pnas.82.24.8742

PMCID:: PMC391513

Summary Page Browse PDF–1.1M

Select item 3900407.

Amplified C lambda and c-abl genes are on the same marker chromosome in K562 leukemia cells.

J R Selden, B S Emanuel, E Wang, L Cannizzaro, A Palumbo, J Erikson, P C Nowell, G Rovera, C M Croce

Proc Natl Acad Sci U S A. 1983 Dec; 80(23): 7289–7292. doi: 10.1073/pnas.80.23.7289

PMCID:: PMC390040

Summary Page Browse PDF–1.3M

Select item 3841358.

Rearrangement and amplification of c-abl sequences in the human chronic myelogenous leukemia cell line K-562.

S J Collins, M T Groudine

Proc Natl Acad Sci U S A. 1983 Aug; 80(15): 4813–4817. doi: 10.1073/pnas.80.15.4813

PMCID:: PMC384135

Summary Page Browse PDF–1.8M

Select item 3679599.

The first intron in the human c-abl gene is at least 200 kilobases long and is a target for translocations in chronic myelogenous leukemia.

A Bernards, C M Rubin, C A Westbrook, M Paskind, D Baltimore

Mol Cell Biol. 1987 Sep; 7(9): 3231–3236. doi: 10.1128/mcb.7.9.3231

PMCID:: PMC367959

Summary Page Browse PDF–1.1M

Select item 5211410.

v-abl causes hematopoietic disease distinct from that caused by bcr-abl.

M L Scott, R A Van Etten, G Q Daley, D Baltimore

Proc Natl Acad Sci U S A. 1991 Aug 1; 88(15): 6506–6510. doi: 10.1073/pnas.88.15.6506

PMCID:: PMC52114

Summary Page Browse PDF–1.7M

Select item 2461211.

Protein binding and signaling properties of RIN1 suggest a unique effector function

Limin Han, Derrick Wong, Ajay Dhaka, Daniel Afar, Michael White, Wielin Xie, Harvey Herschman, Owen Witte, John Colicelli

Proc Natl Acad Sci U S A. 1997 May 13; 94(10): 4954–4959. doi: 10.1073/pnas.94.10.4954

PMCID:: PMC24612

Abstract Article PDF–346K

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