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Items: 1 to 20 of 32

1.
ADAMTS proteins as modulators of microfibril formation and function
Dirk Hubmacher, Suneel S. Apte
Matrix Biol. Author manuscript; available in PMC 2016 Jan 28.
Published in final edited form as: Matrix Biol. 2015 Sep; 47: 34–43. Published online 2015 May 7. doi: 10.1016/j.matbio.2015.05.004
PMCID:
PMC4731137
AbstractArticlePDF–782K
2.
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
Hannes Steinkellner, Julia Etzler, Laura Gogoll, Jürgen Neesen, Eva Stifter, Oliver Brandau, Franco Laccone
Eur J Hum Genet. 2015 Sep; 23(9): 1186–1191. Published online 2014 Dec 3. doi: 10.1038/ejhg.2014.264
PMCID:
PMC4538198
AbstractArticlePDF–1.1M
3.
Early use of donepezil against psychosis and cognitive decline in Parkinson’s disease: a randomised controlled trial for 2 years
Hideyuki Sawada, Tomoko Oeda, Masayuki Kohsaka, Atsushi Umemura, Satoshi Tomita, Kwiyoung Park, Kouichi Mizoguchi, Hidenori Matsuo, Kazuko Hasegawa, Harutoshi Fujimura, Hiroshi Sugiyama, Michikazu Nakamura, Seishi Kikuchi, Kenji Yamamoto, Toshiaki Fukuda, Suminobu Ito, Masashi Goto, Kosuke Kiyohara, Takashi Kawamura
J Neurol Neurosurg Psychiatry. 2018 Dec; 89(12): 1332–1340. Published online 2018 Aug 3. doi: 10.1136/jnnp-2018-318107
PMCID:
PMC6288700
AbstractArticlePDF–1.3M
4.
Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway
Takeshi Oichi, Yuki Taniguchi, Kazuhito Soma, Yasushi Oshima, Fumiko Yano, Yoshifumi Mori, Ryota Chijimatsu, Joo-ri Kim-Kaneyama, Sakae Tanaka, Taku Saito
Cell Mol Life Sci. 2019 Dec; 76(23): 4795–4809. Published online 2019 Jun 14. doi: 10.1007/s00018-019-03188-0
Correction in:
Cell Mol Life Sci. 2019 Dec; 76(23): 4811–4812.
PMCID:
PMC11105417
AbstractArticlePDF–6.4M
5.
Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site
Alan R. F. Godwin, Rana Dajani, Xinyang Zhang, Jennifer Thomson, David F. Holmes, Christin S. Adamo, Gerhard Sengle, Michael J. Sherratt, Alan M. Roseman, Clair Baldock
Nat Struct Mol Biol. 2023; 30(5): 608–618. Published online 2023 Apr 20. doi: 10.1038/s41594-023-00950-8
Correction in:
Nat Struct Mol Biol. 2023; 30(10): 1608.
PMCID:
PMC10191836
AbstractArticlePDF–6.7M
6.
Altered Ocular Fibrillin Microfibril Composition in Mice With a Glaucoma-Causing Mutation of Adamts10
Hang-Jing Wu, Douglas P. Mortlock, Rachel W. Kuchtey, John Kuchtey
Invest Ophthalmol Vis Sci. 2021 Aug; 62(10): 26. Published online 2021 Aug 23. doi: 10.1167/iovs.62.10.26
PMCID:
PMC8383930
AbstractArticlePDF–5.7M
7.
Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature
Mossa N.A. Al Motawa, Manal S.S. Al Shehri, Majed J. Al Buali, Amnah A.M. Al Agnam
Am J Case Rep. 2021; 22: e930824-1–e930824-8. Published online 2021 May 31. doi: 10.12659/AJCR.930824
PMCID:
PMC8175056
AbstractArticlePDF–2.2M
8.
Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity
Zerina Balic, Saurav Misra, Belinda Willard, Dieter P. Reinhardt, Suneel S. Apte, Dirk Hubmacher
FASEB J. Author manuscript; available in PMC 2021 May 19.
Published in final edited form as: FASEB J. 2021 Feb; 35(2): e21310. doi: 10.1096/fj.202001120RR
PMCID:
PMC8133003
AbstractArticlePDF–2.3M
9.
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
Daniel R. Evans, Jane S. Green, Somayyeh Fahiminiya, Jacek Majewski, Bridget A. Fernandez, Matthew A. Deardorff, Gordon J. Johnson, James H. Whelan, Dirk Hubmacher, Suneel S. Apte, Care4Rare Canada Consortium, Michael O. Woods
Sci Rep. 2020; 10: 10827. Published online 2020 Jul 2. doi: 10.1038/s41598-020-66978-8
PMCID:
PMC7331723
AbstractArticlePDF–1.5M
10.
The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases
Stylianos Z. Karoulias, Nandaraj Taye, Sarah Stanley, Dirk Hubmacher
Biomolecules. 2020 Apr; 10(4): 596. Published online 2020 Apr 12. doi: 10.3390/biom10040596
PMCID:
PMC7226509
AbstractArticlePDF–1.1M
11.
Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease
Dirk Hubmacher, Michael Schneider, Steven J. Berardinelli, Hideyuki Takeuchi, Belinda Willard, Dieter P. Reinhardt, Robert S. Haltiwanger, Suneel S. Apte
Sci Rep. 2017; 7: 41871. Published online 2017 Feb 8. doi: 10.1038/srep41871
PMCID:
PMC5296908
AbstractArticlePDF–4.9M
12.
ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions
Stuart A. Cain, Ewa J. Mularczyk, Mukti Singh, Teresa Massam-Wu, Cay M. Kielty
Sci Rep. 2016; 6: 35956. Published online 2016 Oct 25. doi: 10.1038/srep35956
PMCID:
PMC5078793
AbstractArticlePDF–3.9M
13.
Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach
Dirk Hubmacher, Eric Bergeron, Christine Fagotto-Kaufmann, Lynn Y. Sakai, Dieter P. Reinhardt
Biomacromolecules. Author manuscript; available in PMC 2016 Jul 26.
Published in final edited form as: Biomacromolecules. 2014 Apr 14; 15(4): 1456–1468. Published online 2014 Mar 7. doi: 10.1021/bm5000696
PMCID:
PMC4961472
AbstractArticlePDF–3.1M
14.
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
Octavio D. Reyes-Hernández, Carmen Palacios-Reyes, Sonia Chávez-Ocaña, Enoc M. Cortés-Malagón, Patricia Garcia Alonso-Themann, Víctor Ramos-Cano, Julián Ramírez-Bello, Mónica Sierra-Martínez
BMC Musculoskelet Disord. 2016; 17: 79. Published online 2016 Feb 15. doi: 10.1186/s12891-016-0935-9
PMCID:
PMC4753669
AbstractArticlePDF–1.3M
15.
Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function
Dirk Hubmacher, Suneel S. Apte
Cell Mol Life Sci. 2011 Oct; 68(19): 3137–3148. Published online 2011 Aug 20. doi: 10.1007/s00018-011-0780-9
PMCID:
PMC4729447
AbstractArticlePDF–458K
16.
Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis
Jie Li, Xiaoyun Jia, Shiqiang Li, Shaohua Fang, Xiangming Guo
Mol Vis. 2014; 20: 1017–1024. Published online 2014 Jul 18.
PMCID:
PMC4105116
AbstractArticlePDF–2.3M
17.
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome
Mohd Hussain Shah, Vishwanath Bhat, Jyoti S. Shetty, Arun Kumar
Mol Vis. 2014; 20: 790–796. Published online 2014 Jun 12.
PMCID:
PMC4057248
AbstractArticlePDF–533K
18.
Missense Mutations in FBN1 Exons 41 and 42 Cause Weill-Marchesani Syndrome with Thoracic Aortic Disease and Marfan Syndrome
Alana Cecchi, Naomi Ogawa, Hugo R. Martinez, Alicia Carlson, Yuxin Fan, Daniel J. Penny, Dong-chuan Guo, Steven Eisenberg, Hazim Safi, Anthony Estrera, Richard A. Lewis, Deborah Meyers, Dianna M. Milewicz
Am J Med Genet A. Author manuscript; available in PMC 2014 Sep 1.
Published in final edited form as: Am J Med Genet A. 2013 Sep; 161(9): 10.1002/ajmg.a.36044. Published online 2013 Jul 29. doi: 10.1002/ajmg.a.36044
PMCID:
PMC3829633
AbstractArticlePDF–333K
19.
Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer
PLoS Genet. 2013 Jun; 9(6): e1003536. Published online 2013 Jun 6. doi: 10.1371/journal.pgen.1003536
Correction in:
PLoS Genet. 2013 Jun; 9(6): 10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe.
PMCID:
PMC3675029
AbstractArticlePDF–11M
20.
Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions
Stuart A. Cain, Amanda McGovern, Andrew K. Baldwin, Clair Baldock, Cay M. Kielty
PLoS One. 2012; 7(11): e48634. Published online 2012 Nov 2. doi: 10.1371/journal.pone.0048634
PMCID:
PMC3487758
AbstractArticlePDF–2.9M

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