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Select item 40699091.

A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia

Ting Chen, Jin Hou, Ling-Ling Hu, Jie Gao, Bu-Ling Wu

Int J Clin Exp Pathol. 2014; 7(5): 2490–2495. Published online 2014 Apr 15.

PMCID:: PMC4069909

Abstract Article PDF–1.8M

Select item 37699222.

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

Aideen M. McInerney-Leo, Miriam Schmidts, Claudio R. Cortés, Paul J. Leo, Blanca Gener, Andrew D. Courtney, Brooke Gardiner, Jessica A. Harris, Yeping Lu, Mhairi Marshall, UK10K Consortium, Peter J. Scambler, Philip L. Beales, Matthew A. Brown, Andreas Zankl, Hannah M. Mitchison, Emma L. Duncan, Carol Wicking

Am J Hum Genet. 2013 Sep 5; 93(3): 515–523. doi: 10.1016/j.ajhg.2013.06.022

PMCID:: PMC3769922

Abstract Article PDF–1.3M

Select item 37816393.

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

Deepali N. Shinde, Dominik P. Elmer, Peter Calabrese, Jérôme Boulanger, Norman Arnheim, Irene Tiemann-Boege

Hum Mol Genet. 2013 Oct 15; 22(20): 4117–4126. Published online 2013 Jun 4. doi: 10.1093/hmg/ddt260

PMCID:: PMC3781639

Abstract Article PDF–587K

Select item 37914364.

Somatic GNAS Mutation Causes Widespread and Diffuse Pituitary Disease in Acromegalic Patients with McCune-Albright Syndrome

Alexander O. Vortmeyer, Sven Gläsker, Gautam U. Mehta, Mones S. Abu-Asab, Jonathan H. Smith, Zhengping Zhuang, Michael T. Collins, Edward H. Oldfield

J Clin Endocrinol Metab. 2012 Jul; 97(7): 2404–2413. Published online 2012 May 7. doi: 10.1210/jc.2012-1274

PMCID:: PMC3791436

Abstract Article

Select item 38100065.

Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis

Anne Marie Sbrocchi, Frank Rauch, Margaret L Lawson, Stasia Hadjiyannakis, Sarah Lawrence, Murat Bastepe, Harald Jüppner, Leanne Marie Ward

Eur J Endocrinol. Author manuscript; available in PMC 2013 Oct 28.

Published in final edited form as: Eur J Endocrinol. 2011 Feb; 164(2): 10.1530/EJE-10-0795. Published online 2010 Nov 9. doi: 10.1530/EJE-10-0795

PMCID:: PMC3810006

Abstract Article PDF–905K

Select item 38369166.

Role of RANKL (TNFSF11)-Dependent Osteopetrosis in the Dental Phenotype of Msx2 Null Mutant Mice

Beatriz Castaneda, Yohann Simon, Didier Ferbus, Benoit Robert, Julie Chesneau, Christopher Mueller, Ariane Berdal, Frédéric Lézot

PLoS One. 2013; 8(11): e80054. Published online 2013 Nov 21. doi: 10.1371/journal.pone.0080054

PMCID:: PMC3836916

Abstract Article PDF–5.2M

Select item 38820547.

A missense mutation accelerating the gating of the lysosomal Cl⁻/H⁺-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

Arnaud Sartelet, Tobias Stauber, Wouter Coppieters, Carmen F. Ludwig, Corinne Fasquelle, Tom Druet, Zhiyan Zhang, Naima Ahariz, Nadine Cambisano, Thomas J. Jentsch, Carole Charlier

Dis Model Mech. 2014 Jan; 7(1): 119–128. Published online 2013 Oct 23. doi: 10.1242/dmm.012500

PMCID:: PMC3882054

Abstract Article

Select item 39360308.

Osteoclastogenic Potential of Peripheral Blood Mononuclear Cells in Cleidocranial Dysplasia

Maria Felicia Faienza, Annamaria Ventura, Laura Piacente, Maria Ciccarelli, Margherita Gigante, Loreto Gesualdo, Silvia Colucci, Luciano Cavallo, Maria Grano, Giacomina Brunetti

Int J Med Sci. 2014; 11(4): 356–364. Published online 2014 Feb 20. doi: 10.7150/ijms.7793

PMCID:: PMC3936030

Abstract Article PDF–1.2M

Select item 39847579.

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study

Sang Gyo Seo, Hae-Ryong Song, Hyun Woo Kim, Won Joon Yoo, Jong Sup Shim, Chin Youb Chung, Moon Seok Park, Chang-Wug Oh, Changhoon Jeong, Kwang Soon Song, Ok-Hwa Kim, Sung Sup Park, In Ho Choi, Tae-Joon Cho

BMC Musculoskelet Disord. 2014; 15: 84. Published online 2014 Mar 15. doi: 10.1186/1471-2474-15-84

PMCID:: PMC3984757

Abstract Article PDF–1.0M

Select item 402208810.

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tülay Güran, Behzat Özkan, Zeynep Atay, Teoman Akçay, Belma Haliloglu, Koray Boduroglu, Yasemin Alanay, Serap Turan

Orphanet J Rare Dis. 2014; 9: 60. Published online 2014 Apr 26. doi: 10.1186/1750-1172-9-60

PMCID:: PMC4022088

Abstract Article PDF–1.0M

Select item 403405211.

Gastrointestinal polyps in McCune Albright syndrome

Margaret Zacharin, Anurag Bajpai, Chung Wo Chow, Anthony Catto-Smith, Constantine Stratakis, Michelle W Wong, Rodney Scott

J Med Genet. Author manuscript; available in PMC 2014 May 27.

Published in final edited form as: J Med Genet. 2011 Jul; 48(7): 458–461. Published online 2011 Feb 28. doi: 10.1136/jmg.2010.086330

PMCID:: PMC4034052

Abstract Article PDF–952K

Select item 374881512.

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix

M Valli, AM Barnes, A Gallanti, WA Cabral, S Viglio, MA Weis, E Makareeva, D Eyre, S Leikin, F Antoniazzi, JC Marini, M Mottes

Clin Genet. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Clin Genet. 2012 Nov; 82(5): 453–459. Published online 2011 Oct 19. doi: 10.1111/j.1399-0004.2011.01794.x

PMCID:: PMC3748815

Abstract Article PDF–705K

Select item 407611513.

RANK receptor oligomerisation in the regulation of NFκB signalling

S Das, I Sepahi, A Duthie, S Clark, J C Crockett

J Mol Endocrinol. 2014 Aug; 53(1): 81–91. Prepublished online 2014 May 23. doi: 10.1530/JME-14-0077

PMCID:: PMC4076115

Abstract Article PDF–379K

Select item 411123814.

FGFR3 induces degradation of BMP type I receptor to regulate skeletal development

Huabing Qi, Min Jin, Yaqi Duan, Xiaolan Du, Yuanquan Zhang, Fangli Ren, Yinyin Wang, Qingyun Tian, Xiaofeng Wang, Quan Wang, Ying Zhu, Yangli Xie, Chuanju Liu, Xu Cao, Yuji Mishina, Di Chen, Chu-xia Deng, Zhijie Chang, Lin Chen

Biochim Biophys Acta. Author manuscript; available in PMC 2014 Jul 25.

Published in final edited form as: Biochim Biophys Acta. 2014 Jul; 1843(7): 1237–1247. Published online 2014 Mar 20. doi: 10.1016/j.bbamcr.2014.03.011

PMCID:: PMC4111238

Abstract Article PDF–1.7M

Select item 411468715.

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I

Faegheh Jafarifar, Rosemary C. Dietrich, James M. Hiznay, Richard A. Padgett

RNA. 2014 Jul; 20(7): 1078–1089. doi: 10.1261/rna.045187.114

PMCID:: PMC4114687

Abstract Article PDF–719K

Select item 411480416.

Gene Expression Analysis Suggests Bone Development-Related Genes GDF5 and DIO2 Are Involved in the Development of Kashin-Beck Disease in Children Rather than Adults

Yan Wen, Feng Zhang, Chunyan Li, Shulan He, Wuhong Tan, Yanxia Lei, Qiang Zhang, Hanjie Yu, Jingjing Zheng, Xiong Guo

PLoS One. 2014; 9(7): e103618. Published online 2014 Jul 29. doi: 10.1371/journal.pone.0103618

PMCID:: PMC4114804

Abstract Article PDF–4.1M

Select item 411930817.

A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: Report of a family with review of the literature

Ahmet E. Sekerci, Burhan Balta, Ying Hu, Ernst J. Reichenberger, Osman A. Etoz, Sinan Nazlim, Ibrahim S. Bayrakdar

Med Oral Patol Oral Cir Bucal. 2014 Jul; 19(4): e340–e344. Published online 2014 Mar 8. doi: 10.4317/medoral.19496

PMCID:: PMC4119308

Abstract Article PDF–605K

Select item 413155218.

Etanercept Administration to Neonatal SH3BP2 Knock-In Cherubism Mice Prevents TNF-α-induced Inflammation and Bone Loss

Teruhito Yoshitaka, Shu Ishida, Tomoyuki Mukai, Mizuho Kittaka, Ernst J. Reichenberger, Yasuyoshi Ueki

J Bone Miner Res. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: J Bone Miner Res. 2014 May; 29(5): 1170–1182. doi: 10.1002/jbmr.2125

PMCID:: PMC4131552

Abstract Article PDF–1.2M

Select item 415875719.

Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma

Yasushi Totoki, Akihiko Yoshida, Fumie Hosoda, Hiromi Nakamura, Natsuko Hama, Koichi Ogura, Aki Yoshida, Tomohiro Fujiwara, Yasuhito Arai, Junya Toguchida, Hitoshi Tsuda, Satoru Miyano, Akira Kawai, Tatsuhiro Shibata

Genome Res. 2014 Sep; 24(9): 1411–1420. doi: 10.1101/gr.160598.113

PMCID:: PMC4158757

Abstract Article PDF–1.2M

Select item 416671220.

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

M. A. Delgado, G. Martinez-Domenech, P. Sarrión, R. Urreizti, L. Zecchini, H. H. Robledo, F. Segura, R. Dodelson de Kremer, S. Balcells, D. Grinberg, C. G. Asteggiano

Sci Rep. 2014; 4: 6407. Published online 2014 Sep 18. doi: 10.1038/srep06407