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Items: 1 to 20 of 99

1.

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.

Martínez-Glez V, Valencia M, Caparrós-Martín JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D, Giunta C, Lapunzina P, Ruiz-Perez VL.

Hum Mutat. 2012 Feb;33(2):343-50. doi: 10.1002/humu.21647. Epub 2011 Nov 30.

2.

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

Syx D, Guillemyn B, Symoens S, Sousa AB, Medeira A, Whiteford M, Hermanns-Lê T, Coucke PJ, De Paepe A, Malfait F.

J Bone Miner Res. 2015 Aug;30(8):1445-56. doi: 10.1002/jbmr.2473. Epub 2015 May 21.

3.

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.

Sangsin A, Kuptanon C, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V.

BMC Med Genet. 2017 Mar 4;18(1):25. doi: 10.1186/s12881-017-0384-9.

4.

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

Valencia M, Caparrós-Martin JA, Sirerol-Piquer MS, García-Verdugo JM, Martínez-Glez V, Lapunzina P, Temtamy S, Aglan M, Lund AM, Nikkels PG, Ruiz-Perez VL, Ostergaard E.

Am J Med Genet A. 2014 May;164A(5):1143-50. doi: 10.1002/ajmg.a.36427. Epub 2014 Mar 19.

PMID:
24648371
5.

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH.

Am J Hum Genet. 2010 Mar 12;86(3):389-98. doi: 10.1016/j.ajhg.2010.01.034. Epub 2010 Feb 25.

6.

Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.

Muir AM, Ren Y, Butz DH, Davis NA, Blank RD, Birk DE, Lee SJ, Rowe D, Feng JQ, Greenspan DS.

Hum Mol Genet. 2014 Jun 15;23(12):3085-101. doi: 10.1093/hmg/ddu013. Epub 2014 Jan 12.

7.

Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK.

Hum Mutat. 2015 Feb;36(2):191-5. doi: 10.1002/humu.22731.

PMID:
25402547
8.

Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.

Pollitt RC, Saraff V, Dalton A, Webb EA, Shaw NJ, Sobey GJ, Mughal MZ, Hobson E, Ali F, Bishop NJ, Arundel P, Högler W, Balasubramanian M.

Am J Med Genet A. 2016 Dec;170(12):3150-3156. doi: 10.1002/ajmg.a.37958. Epub 2016 Aug 30.

PMID:
27576954
9.

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL.

Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5.

PMID:
22689593
10.

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS.

J Med Genet. 2012 Oct;49(10):630-5. doi: 10.1136/jmedgenet-2012-101142.

PMID:
23054245
11.

Deletion of epidermal growth factor-like domains converts mammalian tolloid into a chordinase and effective procollagen C-proteinase.

Garrigue-Antar L, François V, Kadler KE.

J Biol Chem. 2004 Nov 26;279(48):49835-41. Epub 2004 Sep 20.

12.

Dentin sialophosphoprotein (DSPP) is cleaved into its two natural dentin matrix products by three isoforms of bone morphogenetic protein-1 (BMP1).

von Marschall Z, Fisher LW.

Matrix Biol. 2010 May;29(4):295-303. doi: 10.1016/j.matbio.2010.01.002. Epub 2010 Jan 15.

13.

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F.

Gene. 2014 Jul 25;545(2):290-2. doi: 10.1016/j.gene.2014.05.028. Epub 2014 May 14.

PMID:
24835313
14.

Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures.

Uzel MI, Scott IC, Babakhanlou-Chase H, Palamakumbura AH, Pappano WN, Hong HH, Greenspan DS, Trackman PC.

J Biol Chem. 2001 Jun 22;276(25):22537-43. Epub 2001 Apr 19.

15.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D.

Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Erratum in: Am J Hum Genet. 2010 Oct 8;87(4):572-3.

16.
17.

New genes in bone development: what's new in osteogenesis imperfecta.

Marini JC, Blissett AR.

J Clin Endocrinol Metab. 2013 Aug;98(8):3095-103. doi: 10.1210/jc.2013-1505. Epub 2013 Jun 14. Review.

18.

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS.

Hum Mutat. 2013 Apr;34(4):582-6. doi: 10.1002/humu.22274.

PMID:
23316006
19.

Decorin is processed by three isoforms of bone morphogenetic protein-1 (BMP1).

von Marschall Z, Fisher LW.

Biochem Biophys Res Commun. 2010 Jan 15;391(3):1374-8. doi: 10.1016/j.bbrc.2009.12.067. Epub 2009 Dec 22.

20.

Hyperosteoidosis and hypermineralization in the same bone: bone tissue analyses in a boy with a homozygous BMP1 mutation.

Hoyer-Kuhn H, Semler O, Schoenau E, Roschger P, Klaushofer K, Rauch F.

Calcif Tissue Int. 2013 Dec;93(6):565-70. doi: 10.1007/s00223-013-9799-2. Epub 2013 Oct 4.

PMID:
24091809

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