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Items: 1 to 20 of 139

1.

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W, Huang L, Xu Y, Xiao X, Li S, Jia X, Gao B, Wang P, Guo X, Zhang Q.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8365-72. doi: 10.1167/iovs.15-17555.

PMID:
26747767
2.

Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.

Kimura M, Ichimura S, Sasaki K, Masuya H, Suzuki T, Wakana S, Ikegawa S, Furuichi T.

Biochem Biophys Res Commun. 2015 Dec 4-11;468(1-2):86-91. doi: 10.1016/j.bbrc.2015.10.160. Epub 2015 Nov 9.

PMID:
26545783
3.

Derepression of MicroRNA-138 Contributes to Loss of the Human Articular Chondrocyte Phenotype.

Seidl CI, Martinez-Sanchez A, Murphy CL.

Arthritis Rheumatol. 2016 Feb;68(2):398-409. doi: 10.1002/art.39428.

PMID:
26359943
4.

BMP3 Alone and Together with TGF-β Promote the Differentiation of Human Mesenchymal Stem Cells into a Nucleus Pulposus-Like Phenotype.

Zhou X, Tao Y, Liang C, Zhang Y, Li H, Chen Q.

Int J Mol Sci. 2015 Aug 27;16(9):20344-59. doi: 10.3390/ijms160920344.

5.

Regulation of Cholesterol Homeostasis by Hedgehog Signaling in Osteoarthritic Cartilage.

Ali SA, Al-Jazrawe M, Ma H, Whetstone H, Poon R, Farr S, Naples M, Adeli K, Alman BA.

Arthritis Rheumatol. 2016 Jan;68(1):127-37. doi: 10.1002/art.39337.

PMID:
26315393
6.

Expression profile of COL2A1 and the pseudogene SLC6A10P predicts tumor recurrence in high-grade serous ovarian cancer.

Ganapathi MK, Jones WD, Sehouli J, Michener CM, Braicu IE, Norris EJ, Biscotti CV, Vaziri SA, Ganapathi RN.

Int J Cancer. 2016 Feb 1;138(3):679-88. doi: 10.1002/ijc.29815. Epub 2015 Sep 10.

PMID:
26311224
7.

Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes.

Jin Y, Elalaf H, Watanabe M, Tamaki S, Hineno S, Matsunaga K, Woltjen K, Kobayashi Y, Nagata S, Ikeya M, Kato T Jr, Okamoto T, Matsuda S, Toguchida J.

PLoS One. 2015 Jul 10;10(7):e0131998. doi: 10.1371/journal.pone.0131998. eCollection 2015.

8.

Identification of genes associated with osteoarthritis by microarray analysis.

Sun J, Yan B, Yin W, Zhang X.

Mol Med Rep. 2015 Oct;12(4):5211-6. doi: 10.3892/mmr.2015.4048. Epub 2015 Jul 7.

PMID:
26151199
9.

Comparing effects of perfusion and hydrostatic pressure on gene profiles of human chondrocyte.

Zhu G, Mayer-Wagner S, Schröder C, Woiczinski M, Blum H, Lavagi I, Krebs S, Redeker JI, Hölzer A, Jansson V, Betz O, Müller PE.

J Biotechnol. 2015 Sep 20;210:59-65. doi: 10.1016/j.jbiotec.2015.06.409. Epub 2015 Jun 29.

PMID:
26133928
10.

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Huang X, Deng X, Xu H, Wu S, Yuan L, Yang Z, Yang Y, Deng H.

PLoS One. 2015 Jun 1;10(6):e0127529. doi: 10.1371/journal.pone.0127529. eCollection 2015.

11.

Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.

Li H, Ma L, Wang B, Cui Y, Xiao T.

Eur Spine J. 2015 Aug;24(8):1813-9. doi: 10.1007/s00586-015-3999-6. Epub 2015 May 13.

PMID:
25967556
12.

Heparin-binding epidermal growth factor-like growth factor (HB-EGF) is increased in osteoarthritis and regulates chondrocyte catabolic and anabolic activities.

Long DL, Ulici V, Chubinskaya S, Loeser RF.

Osteoarthritis Cartilage. 2015 Sep;23(9):1523-31. doi: 10.1016/j.joca.2015.04.019. Epub 2015 Apr 29.

PMID:
25937027
13.

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

Kawano O, Nakamura A, Morikawa S, Uetake K, Ishizu K, Tajima T.

Am J Med Genet A. 2015 Jul;167(7):1578-81. doi: 10.1002/ajmg.a.37073. Epub 2015 Apr 21.

PMID:
25900302
14.

Radiation-induced alterations of osteogenic and chondrogenic differentiation of human mesenchymal stem cells.

Cruet-Hennequart S, Drougard C, Shaw G, Legendre F, Demoor M, Barry F, Lefaix JL, Galéra P.

PLoS One. 2015 Apr 2;10(3):e0119334. doi: 10.1371/journal.pone.0119334. eCollection 2015.

15.

Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Heinrich T, Nanda I, Rehn M, Zollner U, Ernestus K, Wirth C, Schlüter G, Schmid M, Kunstmann E.

Cytogenet Genome Res. 2015;145(1):25-8. doi: 10.1159/000381169. Epub 2015 Mar 25.

PMID:
25823796
16.

Long-term expandable SOX9+ chondrogenic ectomesenchymal cells from human pluripotent stem cells.

Umeda K, Oda H, Yan Q, Matthias N, Zhao J, Davis BR, Nakayama N.

Stem Cell Reports. 2015 Apr 14;4(4):712-26. doi: 10.1016/j.stemcr.2015.02.012. Epub 2015 Mar 26.

17.

Collagen II regulates chondroycte integrin expression profile and differentiation.

Xin W, Heilig J, Paulsson M, Zaucke F.

Connect Tissue Res. 2015;56(4):307-14. doi: 10.3109/03008207.2015.1026965. Epub 2015 Apr 29.

PMID:
25803621
18.

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.

Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AA, Cavalcanti DP.

Am J Med Genet A. 2015 Apr;167A(4):894-901. doi: 10.1002/ajmg.a.36954. Epub 2015 Mar 3. No abstract available.

PMID:
25735649
19.

Transcription factor Hes1 modulates osteoarthritis development in cooperation with calcium/calmodulin-dependent protein kinase 2.

Sugita S, Hosaka Y, Okada K, Mori D, Yano F, Kobayashi H, Taniguchi Y, Mori Y, Okuma T, Chang SH, Kawata M, Taketomi S, Chikuda H, Akiyama H, Kageyama R, Chung UI, Tanaka S, Kawaguchi H, Ohba S, Saito T.

Proc Natl Acad Sci U S A. 2015 Mar 10;112(10):3080-5. doi: 10.1073/pnas.1419699112. Epub 2015 Mar 2.

20.

Mutant IDH is sufficient to initiate enchondromatosis in mice.

Hirata M, Sasaki M, Cairns RA, Inoue S, Puviindran V, Li WY, Snow BE, Jones LD, Wei Q, Sato S, Tang YJ, Nadesan P, Rockel J, Whetstone H, Poon R, Weng A, Gross S, Straley K, Gliser C, Xu Y, Wunder J, Mak TW, Alman BA.

Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):2829-34. doi: 10.1073/pnas.1424400112. Epub 2015 Feb 17.

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