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Items: 1 to 20 of 102

1.

A mouse model for osseous heteroplasia.

Cheeseman MT, Vowell K, Hough TA, Jones L, Pathak P, Tyrer HE, Kelly M, Cox R, Warren MV, Peters J.

PLoS One. 2012;7(12):e51835. doi: 10.1371/journal.pone.0051835. Epub 2012 Dec 19.

2.

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.

Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ.

Am J Med Genet A. 2008 Jul 15;146A(14):1788-96. doi: 10.1002/ajmg.a.32346.

3.

[Paternal GNAS mutations: Which phenotypes? What genetic counseling?].

Kottler ML.

Ann Endocrinol (Paris). 2015 May;76(2):105-9. doi: 10.1016/j.ando.2015.03.010. Epub 2015 May 4. Review. French.

PMID:
25952723
4.

GNAS mutations and heterotopic ossification.

Bastepe M.

Bone. 2018 Apr;109:80-85. doi: 10.1016/j.bone.2017.09.002. Epub 2017 Sep 6. Review.

5.

Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy.

Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, J├╝ppner H, Germain-Lee EL.

PLoS One. 2011;6(6):e21755. doi: 10.1371/journal.pone.0021755. Epub 2011 Jun 29.

6.

Progressive osseous heteroplasia.

Kaplan FS, Shore EM.

J Bone Miner Res. 2000 Nov;15(11):2084-94. Review.

7.

GNAS-associated disorders of cutaneous ossification: two different clinical presentations.

Schimmel RJ, Pasmans SG, Xu M, Stadhouders-Keet SA, Shore EM, Kaplan FS, Wulffraat NM.

Bone. 2010 Mar;46(3):868-72. doi: 10.1016/j.bone.2009.11.001. Epub 2009 Nov 10.

8.

Heterozygous inactivation of Gnas in adipose-derived mesenchymal progenitor cells enhances osteoblast differentiation and promotes heterotopic ossification.

Pignolo RJ, Xu M, Russell E, Richardson A, Kaplan J, Billings PC, Kaplan FS, Shore EM.

J Bone Miner Res. 2011 Nov;26(11):2647-55. doi: 10.1002/jbmr.481.

9.

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.

Lin MH, Numbenjapon N, Germain-Lee EL, Pitukcheewanont P.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):911-8. doi: 10.1515/jpem-2014-0435.

PMID:
25894639
10.

Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.

Weinstein LS, Yu S, Warner DR, Liu J.

Endocr Rev. 2001 Oct;22(5):675-705. Review.

PMID:
11588148
11.

Minireview: GNAS: normal and abnormal functions.

Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M.

Endocrinology. 2004 Dec;145(12):5459-64. Epub 2004 Aug 26. Review.

PMID:
15331575
12.

Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis.

Happle R.

Eur J Med Genet. 2016 May;59(5):290-4. doi: 10.1016/j.ejmg.2016.04.001. Epub 2016 Apr 4. Review.

PMID:
27058263
13.

Skeletal abnormalities and extra-skeletal ossification in mice with restricted Gsalpha deletion caused by a renin promoter-Cre transgene.

Castrop H, Oppermann M, Mizel D, Huang Y, Faulhaber-Walter R, Weiss Y, Weinstein LS, Chen M, Germain S, Lu H, Ragland D, Schimel DM, Schnermann J.

Cell Tissue Res. 2007 Dec;330(3):487-501. Epub 2007 Oct 6.

PMID:
17922144
14.
15.

Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.

Elli FM, Barbieri AM, Bordogna P, Ferrari P, Bufo R, Ferrante E, Giardino E, Beck-Peccoz P, Spada A, Mantovani G.

Bone. 2013 Oct;56(2):276-80. doi: 10.1016/j.bone.2013.06.015. Epub 2013 Jun 21.

16.

Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology.

Weinstein LS, Xie T, Zhang QH, Chen M.

Pharmacol Ther. 2007 Aug;115(2):271-91. Epub 2007 Apr 21. Review.

17.

Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification.

Regard JB, Malhotra D, Gvozdenovic-Jeremic J, Josey M, Chen M, Weinstein LS, Lu J, Shore EM, Kaplan FS, Yang Y.

Nat Med. 2013 Nov;19(11):1505-12. doi: 10.1038/nm.3314. Epub 2013 Sep 29.

18.

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC, Thakker RV.

Hum Mutat. 2015 Jan;36(1):11-9. doi: 10.1002/humu.22696. Epub 2014 Nov 28. Review.

19.

Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report.

Gelfand IM, Hub RS, Shore EM, Kaplan FS, Dimeglio LA.

Bone. 2007 May;40(5):1425-8. Epub 2006 Dec 28.

PMID:
17321228
20.

Gs(alpha) mutations and imprinting defects in human disease.

Weinstein LS, Chen M, Liu J.

Ann N Y Acad Sci. 2002 Jun;968:173-97. Review.

PMID:
12119276

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