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Items: 1 to 20 of 144

1.
2.

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva.

Cappato S, Giacopelli F, Ravazzolo R, Bocciardi R.

Int J Mol Sci. 2018 Mar 26;19(4). pii: E989. doi: 10.3390/ijms19040989. Review.

3.

DNALK2 inhibits the proliferation and invasiveness of breast cancer MDA-MB-231 cells through the Smad-dependent pathway.

Wang K, Sun X, Feng HL, Fei C, Zhang Y.

Oncol Rep. 2017 Feb;37(2):879-886. doi: 10.3892/or.2016.5343. Epub 2016 Dec 30.

PMID:
28075462
4.

The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response.

Hildebrand L, Stange K, Deichsel A, Gossen M, Seemann P.

Cell Signal. 2017 Jan;29:23-30. doi: 10.1016/j.cellsig.2016.10.001. Epub 2016 Oct 4.

PMID:
27713089
5.

Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.

Severino M, Bertamino M, Tortora D, Morana G, Uccella S, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M.

J Med Genet. 2016 Dec;53(12):859-864. doi: 10.1136/jmedgenet-2016-104076. Epub 2016 Aug 26.

PMID:
27565519
6.

The ACVR1 R206H mutation found in fibrodysplasia ossificans progressiva increases human induced pluripotent stem cell-derived endothelial cell formation and collagen production through BMP-mediated SMAD1/5/8 signaling.

Barruet E, Morales BM, Lwin W, White MP, Theodoris CV, Kim H, Urrutia A, Wong SA, Srivastava D, Hsiao EC.

Stem Cell Res Ther. 2016 Aug 17;7(1):115. doi: 10.1186/s13287-016-0372-6.

7.

Concurrent progress of reprogramming and gene correction to overcome therapeutic limitation of mutant ALK2-iPSC.

Kim BY, Jeong S, Lee SY, Lee SM, Gweon EJ, Ahn H, Kim J, Chung SK.

Exp Mol Med. 2016 Jun 3;48(6):e237. doi: 10.1038/emm.2016.43.

8.

A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

Rafati M, Mohamadhashem F, Hoseini A, Hoseininasab F, Ghaffari SR.

Eur J Med Genet. 2016 Jun;59(6-7):330-6. doi: 10.1016/j.ejmg.2016.05.007. Epub 2016 May 13.

PMID:
27182040
9.

Activin-A is overexpressed in severe asthma and is implicated in angiogenic processes.

Samitas K, Poulos N, Semitekolou M, Morianos I, Tousa S, Economidou E, Robinson DS, Kariyawasam HH, Zervas E, Corrigan CJ, Ying S, Xanthou G, Gaga M.

Eur Respir J. 2016 Mar;47(3):769-82. doi: 10.1183/13993003.00437-2015. Epub 2016 Feb 11.

10.

Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.

Pacifici M, Shore EM.

Cytokine Growth Factor Rev. 2016 Feb;27:93-104. doi: 10.1016/j.cytogfr.2015.12.007. Epub 2015 Dec 28. Review.

11.

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva.

Hino K, Ikeya M, Horigome K, Matsumoto Y, Ebise H, Nishio M, Sekiguchi K, Shibata M, Nagata S, Matsuda S, Toguchida J.

Proc Natl Acad Sci U S A. 2015 Dec 15;112(50):15438-43. doi: 10.1073/pnas.1510540112. Epub 2015 Nov 30.

12.

Effects of normal and high circulating concentrations of activin A on vascular endothelial cell functions and vasoactive factor production.

Yong HE, Murthi P, Wong MH, Kalionis B, Cartwright JE, Brennecke SP, Keogh RJ.

Pregnancy Hypertens. 2015 Oct;5(4):346-53. doi: 10.1016/j.preghy.2015.09.006. Epub 2015 Sep 26.

PMID:
26597752
13.

Uncovering Molecular Bases Underlying Bone Morphogenetic Protein Receptor Inhibitor Selectivity.

Alsamarah A, LaCuran AE, Oelschlaeger P, Hao J, Luo Y.

PLoS One. 2015 Jul 2;10(7):e0132221. doi: 10.1371/journal.pone.0132221. eCollection 2015.

14.

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.

Kaplan FS, Kobori JA, Orellana C, Calvo I, Rosello M, Martinez F, Lopez B, Xu M, Pignolo RJ, Shore EM, Groppe JC.

Am J Med Genet A. 2015 Oct;167A(10):2265-71. doi: 10.1002/ajmg.a.37205. Epub 2015 Jun 11.

15.

Classical and atypical Fibrodysplasia Ossificans Progressiva in India.

Madhuri V, Santhanam M, Sugumar LK, Rajagopal K, Chilbule SK.

Ann Hum Genet. 2015 Jul;79(4):245-52. doi: 10.1111/ahg.12112. Epub 2015 Jun 9.

16.

Structure-activity relationship of 3,5-diaryl-2-aminopyridine ALK2 inhibitors reveals unaltered binding affinity for fibrodysplasia ossificans progressiva causing mutants.

Mohedas AH, Wang Y, Sanvitale CE, Canning P, Choi S, Xing X, Bullock AN, Cuny GD, Yu PB.

J Med Chem. 2014 Oct 9;57(19):7900-15. doi: 10.1021/jm501177w. Epub 2014 Sep 4.

17.

Fibrodysplasia ossificans progressiva-related activated activin-like kinase signaling enhances osteoclast formation during heterotopic ossification in muscle tissues.

Yano M, Kawao N, Okumoto K, Tamura Y, Okada K, Kaji H.

J Biol Chem. 2014 Jun 13;289(24):16966-77. doi: 10.1074/jbc.M113.526038. Epub 2014 May 5.

18.

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Buczkowicz P, Hoeman C, Rakopoulos P, Pajovic S, Letourneau L, Dzamba M, Morrison A, Lewis P, Bouffet E, Bartels U, Zuccaro J, Agnihotri S, Ryall S, Barszczyk M, Chornenkyy Y, Bourgey M, Bourque G, Montpetit A, Cordero F, Castelo-Branco P, Mangerel J, Tabori U, Ho KC, Huang A, Taylor KR, Mackay A, Bendel AE, Nazarian J, Fangusaro JR, Karajannis MA, Zagzag D, Foreman NK, Donson A, Hegert JV, Smith A, Chan J, Lafay-Cousin L, Dunn S, Hukin J, Dunham C, Scheinemann K, Michaud J, Zelcer S, Ramsay D, Cain J, Brennan C, Souweidane MM, Jones C, Allis CD, Brudno M, Becher O, Hawkins C.

Nat Genet. 2014 May;46(5):451-6. doi: 10.1038/ng.2936. Epub 2014 Apr 6.

19.

Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.

Taylor KR, Mackay A, Truffaux N, Butterfield Y, Morozova O, Philippe C, Castel D, Grasso CS, Vinci M, Carvalho D, Carcaboso AM, de Torres C, Cruz O, Mora J, Entz-Werle N, Ingram WJ, Monje M, Hargrave D, Bullock AN, Puget S, Yip S, Jones C, Grill J.

Nat Genet. 2014 May;46(5):457-461. doi: 10.1038/ng.2925. Epub 2014 Apr 6.

20.

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Wu G, Diaz AK, Paugh BS, Rankin SL, Ju B, Li Y, Zhu X, Qu C, Chen X, Zhang J, Easton J, Edmonson M, Ma X, Lu C, Nagahawatte P, Hedlund E, Rusch M, Pounds S, Lin T, Onar-Thomas A, Huether R, Kriwacki R, Parker M, Gupta P, Becksfort J, Wei L, Mulder HL, Boggs K, Vadodaria B, Yergeau D, Russell JC, Ochoa K, Fulton RS, Fulton LL, Jones C, Boop FA, Broniscer A, Wetmore C, Gajjar A, Ding L, Mardis ER, Wilson RK, Taylor MR, Downing JR, Ellison DW, Zhang J, Baker SJ.

Nat Genet. 2014 May;46(5):444-450. doi: 10.1038/ng.2938. Epub 2014 Apr 6.

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