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Items: 12

Select item 44247221.

Glaucoma in Iran and Contributions of Studies in Iran to the Understanding of the Etiology of Glaucoma

Fatemeh Suri, Shahin Yazdani, Elahe Elahi

J Ophthalmic Vis Res. 2015 Jan-Mar; 10(1): 68–76. doi: 10.4103/2008-322X.156120

PMCID:: PMC4424722

Abstract Article PDF–588K

Select item 111054172.

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

Abstract Article PDF–6.4M

Select item 101918363.

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

Abstract Article PDF–6.7M

Select item 83839304.

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

Abstract Article PDF–5.7M

Select item 81750565.

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

Abstract Article PDF–2.2M

Select item 40572486.

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

Abstract Article PDF–533K

Select item 36750297.

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

Abstract Article PDF–11M

Select item 32522778.

Microenvironmental Regulation by Fibrillin-1

Gerhard Sengle, Ko Tsutsui, Douglas R. Keene, Sara F. Tufa, Eric J. Carlson, Noe L. Charbonneau, Robert N. Ono, Takako Sasaki, Mary K. Wirtz, John R. Samples, Liselotte I. Fessler, John H. Fessler, Kiyotoshi Sekiguchi, Susan J. Hayflick, Lynn Y. Sakai

PLoS Genet. 2012 Jan; 8(1): e1002425. Published online 2012 Jan 5. doi: 10.1371/journal.pgen.1002425

PMCID:: PMC3252277

Abstract Article PDF–3.1M

Select item 26298939.

A Case of Weill-Marchesani Syndrome with Inversion of Chromosome 15

Jae Lim Chung, Sun Woong Kim, Ji Hyun Kim, Tae-im Kim, Hyung Keun Lee, Eung Kweon Kim

Korean J Ophthalmol. 2007 Dec; 21(4): 255–260. Published online 2007 Dec 20. doi: 10.3341/kjo.2007.21.4.255

PMCID:: PMC2629893

Abstract Article PDF–3.0M

Select item 173527210.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

L Faivre, R Gorlin, M Wirtz, M Godfrey, N Dagoneau, J Samples, M Le Merrer, G Collod-Beroud, C Boileau, A Munnich, V Cormier-Daire

J Med Genet. 2003 Jan; 40(1): 34–36. doi: 10.1136/jmg.40.1.34

PMCID:: PMC1735272

Summary PDF–144K

Select item 118210911.

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Munnich, Laurence Legeai-Mallet, Valérie Cormier-Daire

Am J Hum Genet. 2004 Nov; 75(5): 801–806. Published online 2004 Sep 13. doi: 10.1086/425231