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Items: 1 to 20 of 177

1.
FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family
Ariane Schmetz, Jörg Schaper, Simon Thelen, Majeed Rana, Thomas Klenzner, Katharina Schaumann, Jasmin Beygo, Harald Surowy, Hermann-Josef Lüdecke, Dagmar Wieczorek
Genes (Basel) 2023 Mar; 14(3): 724. Published online 2023 Mar 15. doi: 10.3390/genes14030724
PMCID:
PMC10048304
AbstractArticlePDF–8.5M
2.
GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment
Raymond A. Clarke, Zhiming Fang, Dedee Murrell, Tabrez Sheriff, Valsamma Eapen
Genes (Basel) 2021 Sep; 12(9): 1354. Published online 2021 Aug 29. doi: 10.3390/genes12091354
PMCID:
PMC8470939
AbstractArticlePDF–2.3M
3.
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
Ann‐Charlotte Thuresson, Brittany Croft, Yasmin D. Hailer, Gunnar Liminga, Carl‐Göran Arvidsson, Vincent R. Harley, Eva‐Lena Stattin
Clin Genet. 2021 Feb; 99(2): 325–329. Published online 2021 Jan 13. doi: 10.1111/cge.13880
PMCID:
PMC7839447
AbstractArticlePDF–2.0M
4.
Modified French Osteotomy for Humeroradial Synostosis in a Child with Multiple Synostoses Syndrome: A Case Report
H Sahdi, AH Rasit, CS Khoo, A Bojeng, BA Nur-Alyana
Malays Orthop J. 2019 Jul; 13(2): 52–55. doi: 10.5704/MOJ.1907.011
PMCID:
PMC6702971
AbstractArticlePDF–1.6M
5.
A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss
Ragnhild Drage Berentsen, Bjørn I. Haukanes, Pétur B. Júlíusson, Karen Rosendahl, Gunnar Houge
Mol Syndromol. 2019 Jan; 9(5): 228–234. Published online 2018 Aug 15. doi: 10.1159/000492418
PMCID:
PMC6362854
AbstractArticlePDF–937K
6.
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal
Jian Wang, Tingting Yu, Zhigang Wang, Satoshi Ohte, Ru-en Yao, Zhaojing Zheng, Juan Geng, Haiqing Cai, Yihua Ge, Yuchan Li, Yunlan Xu, Qinghua Zhang, James F Gusella, Qihua Fu, Steven Pregizer, Vicki Rosen, Yiping Shen
J Bone Miner Res. Author manuscript; available in PMC 2017 Jan 26.
Published in final edited form as: J Bone Miner Res. 2016 Apr; 31(4): 882–889. Published online 2015 Dec 28. doi: 10.1002/jbmr.2761
PMCID:
PMC5268166
AbstractArticlePDF–762K
7.
Multiple Synostoses Syndrome Is Due to a Missense Mutation in Exon 2 of FGF9 Gene
Xiao-lin Wu, Ming-min Gu, Lei Huang, Xue-song Liu, Hong-xin Zhang, Xiao-yi Ding, Jian-qiang Xu, Bin Cui, Long Wang, Shun-yuan Lu, Xiao-yi Chen, Hai-guo Zhang, Wei Huang, Wen-tao Yuan, Jiang-ming Yang, Qun Gu, Jian Fei, Zhu Chen, Zhi-min Yuan, Zhu-gang Wang
Am J Hum Genet. 2009 Jul 10; 85(1): 53–63. doi: 10.1016/j.ajhg.2009.06.007
PMCID:
PMC2706969
AbstractArticlePDF–1.0M
8.
GDF5 Is a Second Locus for Multiple-Synostosis Syndrome
Katherine Dawson, Petra Seeman, Eiman Sebald, Lily King, Matthew Edwards, John Williams III, Stephan Mundlos, Deborah Krakow
Am J Hum Genet. 2006 Apr; 78(4): 708–712. Published online 2006 Feb 24. doi: 10.1086/503204
PMCID:
PMC1424701
AbstractArticlePDF–443K
9.
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.
D Krakow, K Reinker, B Powell, R Cantor, M A Priore, A Garber, R S Lachman, D L Rimoin, D H Cohn
Am J Hum Genet. 1998 Jul; 63(1): 120–124. doi: 10.1086/301921
PMCID:
PMC1377242
SummaryPDF–445K
10.
Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation
Zhao Zhang, Yu Lu, Jing‐Yuan Cao, Li Wang, Lin‐Ke Li, Chao Wang, Xuan Ye, Yi‐Ming Ji, Lin‐Yi Tu, Yi Sun
Mol Genet Genomic Med. 2022 May; 10(5): e1933. Published online 2022 Mar 25. doi: 10.1002/mgg3.1933
PMCID:
PMC9034678
AbstractArticlePDF–2.3M
11.
siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference
Zhiming Fang, Zhongming Zhao, Valsamma Eapen, Raymond A. Clarke
Genes (Basel) 2021 Aug; 12(8): 1290. Published online 2021 Aug 23. doi: 10.3390/genes12081290
PMCID:
PMC8393430
AbstractArticlePDF–2.5M
12.
A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2
Elisa Degenkolbe, Jana König, Julia Zimmer, Maria Walther, Carsten Reißner, Joachim Nickel, Frank Plöger, Jelena Raspopovic, James Sharpe, Katarina Dathe, Jacqueline T. Hecht, Stefan Mundlos, Sandra C. Doelken, Petra Seemann
PLoS Genet. 2013 Oct; 9(10): e1003846. Published online 2013 Oct 3. doi: 10.1371/journal.pgen.1003846
PMCID:
PMC3789827
AbstractArticlePDF–2.0M
13.
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
S Usami, S Abe, S Nishio, Y Sakurai, H Kojima, T Tono, N Suzuki
Clin Genet. 2012 Dec; 82(6): 514–520. Published online 2012 Jan 30. doi: 10.1111/j.1399-0004.2011.01831.x
PMCID:
PMC3532604
AbstractArticlePDF–643K
14.
Mutations in GDF5 Reveal a Key Residue Mediating BMP Inhibition by NOGGIN
Petra Seemann, Anja Brehm, Jana König, Carsten Reissner, Sigmar Stricker, Pia Kuss, Julia Haupt, Stephanie Renninger, Joachim Nickel, Walter Sebald, Jay C. Groppe, Frank Plöger, Jens Pohl, Mareen Schmidt-von Kegler, Maria Walther, Ingmar Gassner, Cristina Rusu, Andreas R. Janecke, Katarina Dathe, Stefan Mundlos
PLoS Genet. 2009 Nov; 5(11): e1000747. Published online 2009 Nov 26. doi: 10.1371/journal.pgen.1000747
PMCID:
PMC2776984
AbstractArticlePDF–5.6M
15.
Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin
David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, Donna M. Martin, Peter J. Strouse, Sayoko E. Moroi, Jeff M. Milunsky, Marci M. Lesperance
Am J Hum Genet. 2002 Sep; 71(3): 618–624. Published online 2002 Jun 27. doi: 10.1086/342067
PMCID:
PMC379196
AbstractArticlePDF–423K
16.
Human disease-causing NOG missense mutations: Effects on noggin secretion, dimer formation, and bone morphogenetic protein binding
Jose Marcelino, Christopher M. Sciortino, Michael F. Romero, Lynn M. Ulatowski, R. Tracy Ballock, Aris N. Economides, Peter M. Eimon, Richard M. Harland, Matthew L. Warman
Proc Natl Acad Sci U S A. 2001 Sep 25; 98(20): 11353–11358. Published online 2001 Sep 18. doi: 10.1073/pnas.201367598
PMCID:
PMC58733
AbstractArticlePDF–325K
17.
A missense GDF5 variant causes brachydactyly type A1 and multiple‐synostoses syndrome 2
Juyi Li, Xiaofang Liang, Xiufang Wang, Pei Yang, Xiaofei Jian, Lei Fu, Aiping Deng, Chao Liu, Jianxin Liu
JOR Spine. 2024 Mar; 7(1): e1302. Published online 2023 Nov 28. doi: 10.1002/jsp2.1302
PMCID:
PMC10782059
AbstractArticlePDF–2.9M
18.
BMP antagonists in tissue development and disease
Annkatrin Correns, Laura-Marie A. Zimmermann, Clair Baldock, Gerhard Sengle
Matrix Biol Plus. 2021 Aug; 11: 100071. Published online 2021 Jun 11. doi: 10.1016/j.mbplus.2021.100071
PMCID:
PMC8377005
AbstractArticlePDF–1.4M
19.
Antisense oligonucleotide therapeutic approach for Timothy syndrome
Xiaoyu Chen, Fikri Birey, Min-Yin Li, Omer Revah, Rebecca Levy, Mayuri Vijay Thete, Noah Reis, Konstantin Kaganovsky, Massimo Onesto, Noriaki Sakai, Zuzana Hudacova, Jin Hao, Xiangling Meng, Seiji Nishino, John Huguenard, Sergiu P. Pașca
Nature. 2024; 628(8009): 818–825. Published online 2024 Apr 24. doi: 10.1038/s41586-024-07310-6
PMCID:
PMC11043036
AbstractArticlePDF–14M
20.
Type 1 diabetes in a patient with Ellis-van Creveld syndrome
Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin
Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009
PMCID:
PMC10906694
AbstractArticlePDF–406K

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