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Select item 45649901.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

Am J Hum Genet. 2015 Sep 3; 97(3): 483–492. Published online 2015 Aug 27. doi: 10.1016/j.ajhg.2015.08.001

PMCID:: PMC4564990

Article PDF–2.1M

Select item 35990082.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Smail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard, Julie De Backer, Fransiska Malfait, Olivier M Vanakker, Paul J Coucke, Anne M De Paepe, Christine Bodemer

Orphanet J Rare Dis. 2013; 8: 36. Published online 2013 Feb 25. doi: 10.1186/1750-1172-8-36

PMCID:: PMC3599008

Article PDF–858K

Select item 33836543.

New insights into the pathogenesis of autosomal dominant cutis laxa with report of five ELN mutations

Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Hausser, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul J. Coucke, Anne De Paepe, Zsolt Urban

Hum Mutat. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Hum Mutat. 2011 Apr; 32(4): 445–455. Published online 2011 Mar 1. doi: 10.1002/humu.21462

PMCID:: PMC3383654

Article PDF–1.7M

Select item 102175684.

Characterization of the Zebrafish Elastin a (elna^sa12235) Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects

Marie Hoareau, Naïma El Kholti, Romain Debret, Elise Lambert

Cells. 2023 May; 12(10): 1436. Published online 2023 May 21. doi: 10.3390/cells12101436

PMCID:: PMC10217568

Article PDF–20M

Select item 84091725.

Elastin-Driven Genetic Diseases

Maria Laura Duque Lasio, Beth A. Kozel

Matrix Biol. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Matrix Biol. 2018 Oct; 71-72: 144–160. Published online 2018 Feb 28. doi: 10.1016/j.matbio.2018.02.021

PMCID:: PMC8409172

Article PDF–1.0M

Select item 78768036.

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama

BMC Neurol. 2021; 21: 64. Published online 2021 Feb 11. doi: 10.1186/s12883-021-02087-x

PMCID:: PMC7876803

Article PDF–945K

Select item 61396277.

Elastin, arterial mechanics, and cardiovascular disease

Austin J. Cocciolone, Jie Z. Hawes, Marius C. Staiculescu, Elizabeth O. Johnson, Monzur Murshed, Jessica E. Wagenseil

Am J Physiol Heart Circ Physiol. 2018 Aug 1; 315(2): H189–H205. Published online 2018 Apr 6. doi: 10.1152/ajpheart.00087.2018

PMCID:: PMC6139627

Article

Select item 56265948.

Diffusion MRI phenotypes predict overall survival benefit from anti-VEGF monotherapy in recurrent glioblastoma: Converging evidence from phase II trials

Benjamin M. Ellingson, Elizabeth R. Gerstner, Marion Smits, Raymond Y. Huang, Rivka Colen, Lauren E. Abrey, Dana T. Aftab, Gisela M. Schwab, Colin Hessel, Robert J. Harris, Ararat Chakhoyan, Renske Gahrmann, Whitney B. Pope, Kevin Leu, Catalina Raymond, Davis C. Woodworth, John de Groot, Patrick Y. Wen, Tracy T. Batchelor, Martin J. van den Bent, Timothy F. Cloughesy

Clin Cancer Res. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Clin Cancer Res. 2017 Oct 1; 23(19): 5745–5756. Published online 2017 Jun 27. doi: 10.1158/1078-0432.CCR-16-2844

PMCID:: PMC5626594

Article PDF–930K

Select item 45966659.

Choosing Subsamples for Sequencing Studies by Minimizing the Average Distance to the Closest Leaf

Jonathan T. L. Kang, Peng Zhang, Sebastian Zöllner, Noah A. Rosenberg

Genetics. 2015 Oct; 201(2): 499–511. Published online 2015 Aug 24. doi: 10.1534/genetics.115.176909

PMCID:: PMC4596665

Article PDF–1.6M

Select item 386957410.

Phase II Study of Bevacizumab in Combination with Sorafenib in Recurrent Glioblastoma (N0776): A North Central Cancer Treatment Group Trial

Evanthia Galanis, S. Keith Anderson, Jackie M. Lafky, Joon H. Uhm, Caterina Giannini, Shaji K. Kumar, Teresa K. Kimlinger, Donald W. Northfelt, Patrick J. Flynn, Kurt A. Jaeckle, Timothy J. Kaufmann, Jan C. Buckner

Clin Cancer Res. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Clin Cancer Res. 2013 Sep 1; 19(17): 10.1158/1078-0432.CCR-13-0708. Published online 2013 Jul 5. doi: 10.1158/1078-0432.CCR-13-0708

PMCID:: PMC3869574

Article PDF–268K

Select item 379763611.

Minimizing the Average Distance to a Closest Leaf in a Phylogenetic Tree

Frederick A. Matsen, IV, Aaron Gallagher, Connor O. McCoy

Syst Biol. 2013 Nov; 62(6): 824–836. Published online 2013 Jul 12. doi: 10.1093/sysbio/syt044

PMCID:: PMC3797636

Article PDF–387K

Select item 360656112.

MECHANISMS OF EMPHYSEMA IN AUTOSOMAL DOMINANT CUTIS LAXA

Qirui Hu, Adrian Shifren, Carla Sens, Jiwon Choi, Zoltan Szabo, Barry C. Starcher, Russell H. Knutsen, J. Michael Shipley, Elaine C. Davis, Robert P. Mecham, Zsolt Urban

Matrix Biol. Author manuscript; available in PMC 2013 Mar 23.

Published in final edited form as: Matrix Biol. 2010 Sep; 29(7): 621–628. Published online 2010 Jun 28. doi: 10.1016/j.matbio.2010.06.005

PMCID:: PMC3606561

Article PDF–3.5M

Select item 345800613.

Polymorphisms in the Human Tropoelastin Gene Modify In Vitro Self-Assembly and Mechanical Properties of Elastin-Like Polypeptides

David He, Ming Miao, Eva E. Sitarz, Lisa D. Muiznieks, Sean Reichheld, Richard J. Stahl, Fred W. Keeley, John Parkinson

PLoS One. 2012; 7(9): e46130. Published online 2012 Sep 25. doi: 10.1371/journal.pone.0046130

PMCID:: PMC3458006

Article PDF–606K

Select item 338116414.

Alternative Splicing and Tissue-specific Elastin Misassembly Act as Biological Modifiers of Human Elastin Gene Frameshift Mutations Associated with Dominant Cutis Laxa

Hideki Sugitani, Eiichi Hirano, Russell H. Knutsen, Adrian Shifren, Jessica E. Wagenseil, Christopher Ciliberto, Beth A. Kozel, Zsolt Urban, Elaine C. Davis, Thomas J. Broekelmann, Robert P. Mecham

J Biol Chem. 2012 Jun 22; 287(26): 22055–22067. Published online 2012 May 9. doi: 10.1074/jbc.M111.327940