PMC Links for Gene (Select 79558) - PMC

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Items: 20

Select item 73896821.

Patients with ACVR1^R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao

Orphanet J Rare Dis. 2020; 15: 193. Published online 2020 Jul 29. doi: 10.1186/s13023-020-01465-x

PMCID:: PMC7389682

Abstract Article PDF–473K

Select item 45674502.

Multi-System Involvement in a Severe Variant of Fibrodysplasia Ossificans Progressiva (ACVR1 c.772G>A; R258G): A Report of Two Patients

Frederick S. Kaplan, Joyce A. Kobori, Carmen Orellana, Inmaculada Calvo, Monica Rosello, Francisco Martinez, Berta Lopez, Meiqi Xu, Robert J. Pignolo, Eileen M. Shore, Jay C. Groppe

Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Med Genet A. 2015 Oct; 167(10): 2265–2271. Published online 2015 Jun 11. doi: 10.1002/ajmg.a.37205

PMCID:: PMC4567450

Abstract Article PDF–705K

Select item 479583.

Cloning and characterization of a transmembrane serine kinase that acts as an activin type I receptor.

K Tsuchida, L S Mathews, W W Vale

Proc Natl Acad Sci U S A. 1993 Dec 1; 90(23): 11242–11246. doi: 10.1073/pnas.90.23.11242

PMCID:: PMC47958

Summary Page Browse PDF–1.2M

Select item 73464694.

Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin

Altaf A. Kondkar, Tahira Sultan, Taif A. Azad, Essam A. Osman, Faisal A. Almobarak, Saleh A. Al-Obeidan

BMC Med Genet. 2020; 21: 145. Published online 2020 Jul 8. doi: 10.1186/s12881-020-01076-0

PMCID:: PMC7346469

Abstract Article PDF–831K

Select item 13612615.

Atrioventricular cushion transformation is mediated by ALK2 in the developing mouse heart

Jikui Wang, Somyoth Sridurongrit, Marek Dudas, Penny Thomas, Andre Nagy, Michael D. Schneider, Jonathan A. Epstein, Vesa Kaartinen

Dev Biol. Author manuscript; available in PMC 2006 Feb 6.

Published in final edited form as: Dev Biol. 2005 Oct 1; 286(1): 299–310. doi: 10.1016/j.ydbio.2005.07.035

PMCID:: PMC1361261

Abstract Article PDF–1.4M

Select item 41072076.

Increased decidual mRNA expression levels of candidate maternal pre-eclampsia susceptibility genes are associated with clinical severity

Hannah E. J. Yong, Padma Murthi, Anthony Borg, Bill Kalionis, Eric K. Moses, Shaun P. Brennecke, Rosemary J. Keogh

Placenta. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Placenta. 2014 Feb; 35(2): 117–124. Published online 2013 Nov 25. doi: 10.1016/j.placenta.2013.11.008

PMCID:: PMC4107207

Abstract Article PDF–446K

Select item 17802557.

BMP Type I Receptor ALK2 Is Essential for Proper Patterning at Late Gastrulation During Mouse Embryogenesis

Yoshihiro Komatsu, Gregory Scott, Andre Nagy, Vesa Kaartinen, Yuji Mishina

Dev Dyn. Author manuscript; available in PMC 2007 Feb 1.

Published in final edited form as: Dev Dyn. 2007 Feb; 236(2): 512–517. doi: 10.1002/dvdy.21021

PMCID:: PMC1780255

Abstract Article PDF–753K

Select item 16350398.

Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects

Jikui Wang, Andre Nagy, Jonas Larsson, Marek Dudas, Henry M Sucov, Vesa Kaartinen

BMC Dev Biol. 2006; 6: 51. Published online 2006 Nov 1. doi: 10.1186/1471-213X-6-51

PMCID:: PMC1635039

Abstract Article PDF–5.8M

Select item 31240539.

The tumor suppressor gene Trp53 protects the mouse lens against posterior subcapsular cataracts and the BMP receptor Acvr1 acts as a tumor suppressor in the lens

Luke A. Wiley, Ramya Rajagopal, Lisa K. Dattilo, David C. Beebe

Dis Model Mech. 2011 Jul; 4(4): 484–495. Published online 2011 Apr 18. doi: 10.1242/dmm.006593

PMCID:: PMC3124053

Abstract Article

Select item 473230310.

VE-cadherin facilitates BMP-induced endothelial cell permeability and signaling

Andreas Benn, Clara Bredow, Isabel Casanova, Slobodan Vukičević, Petra Knaus

J Cell Sci. 2016 Jan 1; 129(1): 206–218. doi: 10.1242/jcs.179960

PMCID:: PMC4732303

Abstract Article

Select item 283254211.

Endoglin phosphorylation by ALK2 contributes to the regulation of prostate cancer cell migration

Diana Romero, Aleksandra Terzic, Barbara A. Conley, Clarissa S. Craft, Borko Jovanovic, Raymond C. Bergan, Calvin P.H. Vary

Carcinogenesis. 2010 Mar; 31(3): 359–366. Published online 2009 Sep 7. doi: 10.1093/carcin/bgp217

PMCID:: PMC2832542

Abstract Article PDF–656K

Select item 51740412.

BMP signaling mediated by ALK2 in the visceral endoderm is necessary for the generation of primordial germ cells in the mouse embryo

Susana M. Chuva de Sousa Lopes, Bernard A.J. Roelen, Rui M. Monteiro, Roul Emmens, Herbert Y. Lin, En Li, Kirstie A. Lawson, Christine L. Mummery

Genes Dev. 2004 Aug 1; 18(15): 1838–1849. doi: 10.1101/gad.294004

PMCID:: PMC517404

Abstract Article PDF–275K

Select item 486733613.

BMP type I receptor ALK2 is required for angiotensin II-induced cardiac hypertrophy

Mohd Shahid, Ester Spagnolli, Laura Ernande, Robrecht Thoonen, Starsha A. Kolodziej, Patricio A. Leyton, Juan Cheng, Robert E. T. Tainsh, Claire Mayeur, David K. Rhee, Mei. X. Wu, Marielle Scherrer-Crosbie, Emmanuel S. Buys, Warren M. Zapol, Kenneth D. Bloch, Donald B. Bloch

Am J Physiol Heart Circ Physiol. 2016 Apr 15; 310(8): H984–H994. Published online 2016 Feb 12. doi: 10.1152/ajpheart.00879.2015