PMC Links for OMIM (Select 134797) - PMC

Links from OMIM

Items: 1 to 20 of 50

<< First< Prev

Page of 3

Next >Last >>

Select item 67776261.

Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar

Linnea M. Baudhuin, Michelle L. Kluge, Katrina E. Kotzer, Susan A. Lagerstedt

Eur J Hum Genet. 2019 Oct; 27(10): 1550–1560. Published online 2019 Jun 21. doi: 10.1038/s41431-019-0440-3

PMCID:: PMC6777626

Abstract Article PDF–804K

Select item 57209142.

Asprosin is a centrally-acting orexigenic hormone

Clemens Duerrschmid, Yanlin He, Chunmei Wang, Chia Li, Juan C. Bournat, Chase Romere, Pradip K. Saha, Mark E. Lee, Kevin J. Phillips, Mahim Jain, Peilin Jia, Zhongming Zhao, Monica Farias, Qi Wu, Dianna M. Milewicz, V. Reid Sutton, David D. Moore, Nancy F. Butte, Michael J. Krashes, Yong Xu, Atul R. Chopra

Nat Med. Author manuscript; available in PMC 2018 May 6.

Published in final edited form as: Nat Med. 2017 Dec; 23(12): 1444–1453. Published online 2017 Nov 6. doi: 10.1038/nm.4432

PMCID:: PMC5720914

Abstract Article PDF–1.8M

Select item 48527103.

Asprosin, a Fasting-Induced Glucogenic Protein Hormone

Chase Romere, Clemens Duerrschmid, Juan Bournat, Petra Constable, Mahim Jain, Fan Xia, Pradip K. Saha, Maria Del Solar, Bokai Zhu, Brian York, Poonam Sarkar, David A. Rendon, M. Waleed Gaber, Scott A. LeMaire, Joseph S. Coselli, Dianna M. Milewicz, V. Reid Sutton, Nancy F. Butte, David D. Moore, Atul R. Chopra

Cell. Author manuscript; available in PMC 2017 Apr 21.

Published in final edited form as: Cell. 2016 Apr 21; 165(3): 566–579. Published online 2016 Apr 14. doi: 10.1016/j.cell.2016.02.063

PMCID:: PMC4852710

Abstract Article PDF–3.8M

Select item 44924044.

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias

Sacha A. Jensen, Sarah Iqbal, Alicja Bulsiewicz, Penny A. Handford

Hum Mol Genet. 2015 Aug 1; 24(15): 4454–4463. Published online 2015 May 15. doi: 10.1093/hmg/ddv181

PMCID:: PMC4492404

Abstract Article PDF–804K

Select item 39929875.

Integrin Modulating Therapies Prevent Fibrosis and Autoimmunity in Genetic Mouse Models of Scleroderma

Elizabeth E. Gerber, Elena M. Gallo, Stefani C. Fontana, Elaine C. Davis, Fredrick M. Wigley, David L. Huso, Harry C. Dietz

Nature. Author manuscript; available in PMC 2014 May 7.

Published in final edited form as: Nature. 2013 Nov 7; 503(7474): 126–130. Published online 2013 Oct 9. doi: 10.1038/nature12614

PMCID:: PMC3992987

Abstract Article PDF–1.4M

Select item 39341806.

Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome

Jason R. Cook, Luca Carta, Ludovic Bénard, Elie R. Chemaly, Emily Chiu, Satish K. Rao, Thomas G. Hampton, Peter Yurchenco, GenTAC Registry Consortium, Kevin D. Costa, Roger J. Hajjar, Francesco Ramirez

J Clin Invest. 2014 Mar 3; 124(3): 1329–1339. Published online 2014 Feb 17. doi: 10.1172/JCI71059

PMCID:: PMC3934180

Abstract Article PDF–2.9M

Select item 35932357.

FBN1 Mutations in Patients With Descending Thoracic Aortic Dissections

Ariel Brautbar, Scott A. LeMaire, Luis M. Franco, Joseph S. Coselli, Dianna M. Milewicz, John W. Belmont

Am J Med Genet A. Author manuscript; available in PMC 2013 Mar 11.

Published in final edited form as: Am J Med Genet A. 2010 Feb; 152A(2): 413–416. doi: 10.1002/ajmg.a.32856

PMCID:: PMC3593235

Abstract Article PDF–38K

Select item 35456958.

Mutations in the TGF-ß Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

Alexander J. Doyle, Jefferson J. Doyle, Seneca L. Bessling, Samantha Maragh, Mark E. Lindsay, Dorien Schepers, Elisabeth Gillis, Geert Mortier, Tessa Homfray, Kimberly Sauls, Russell A. Norris, Nicholas D. Huso, Dan Leahy, David W. Mohr, Mark J. Caulfield, Alan F. Scott, Anne Destrée, Raoul C. Hennekam, Pamela H. Arn, Cynthia J. Curry, Lut Van Laer, Andrew S. McCallion, Bart L. Loeys, Harry C. Dietz

Nat Genet. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1249–1254. Published online 2012 Sep 30. doi: 10.1038/ng.2421

PMCID:: PMC3545695

Abstract Article PDF–1.1M

Select item 33357789.

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis

Guoxing Yang, Meifang Chu, Xinling Zhai, Jialiang Zhao

Mol Vis. 2012; 18: 945–950. Published online 2012 Apr 13.

PMCID:: PMC3335778

Abstract Article PDF–1.2M

Select item 313580010.

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, Slimane Allali, Avinash Abhyankar, Sacha Jensen, Louise Zylberberg, Gwenaelle Collod-Beroud, Damien Bonnet, Yasemin Alanay, Angela F. Brady, Marie-Pierre Cordier, Koen Devriendt, David Genevieve, Pelin Özlem Simsek Kiper, Hiroshi Kitoh, Deborah Krakow, Sally Ann Lynch, Martine Le Merrer, André Mégarbane, Geert Mortier, Sylvie Odent, Michel Polak, Marianne Rohrbach, David Sillence, Irene Stolte-Dijkstra, Andrea Superti-Furga, David L. Rimoin, Vicken Topouchian, Sheila Unger, Bernhard Zabel, Christine Bole-Feysot, Patrick Nitschke, Penny Handford, Jean-Laurent Casanova, Catherine Boileau, Suneel S. Apte, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2011 Jul 15; 89(1): 7–14. doi: 10.1016/j.ajhg.2011.05.012

PMCID:: PMC3135800

Abstract Article PDF–783K

Select item 306199911.

The clinical spectrum of complete FBN1 allele deletions

Yvonne Hilhorst-Hofstee, Ben CJ Hamel, Joke BGM Verheij, Marry EB Rijlaarsdam, Grazia MS Mancini, Jan M Cobben, Cindy Giroth, Claudia AL Ruivenkamp, Kerstin BM Hansson, Janneke Timmermans, Henriette A Moll, Martijn H Breuning, Gerard Pals

Eur J Hum Genet. 2011 Mar; 19(3): 247–252. Published online 2010 Nov 10. doi: 10.1038/ejhg.2010.174

PMCID:: PMC3061999

Abstract Article PDF–358K

Select item 298658812.

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Jean François Buyck, Laurent Gouya, Jean-Marie Le Parc, Bertrand Moura, Christine Muti, Bernard Grandchamp, Gilles Sultan, Mireille Claustres, Philippe Aegerter, Bertrand Chevallier, Guillaume Jondeau, Catherine Boileau

Eur J Hum Genet. 2009 Sep; 17(9): 1121–1128. Published online 2009 Mar 18. doi: 10.1038/ejhg.2009.36

PMCID:: PMC2986588

Abstract Article PDF–158K

Select item 295371313.

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

B.L. Loeys, E.E. Gerber, D. Riegert-Johnson, S. Iqbal, P. Whiteman, V. McConnell, C.R. Chillakuri, D. Macaya, P.J. Coucke, A. De Paepe, D.P. Judge, F. Wigley, E.C. Davis, H.J. Mardon, P. Handford, D.R. Keene, L.Y. Sakai, H.C. Dietz

Sci Transl Med. Author manuscript; available in PMC 2010 Oct 13.

Published in final edited form as: Sci Transl Med. 2010 Mar 17; 2(23): 23ra20. doi: 10.1126/scitranslmed.3000488

PMCID:: PMC2953713

Abstract Article PDF–17M

Select item 283609214.

ADAMTSL-6 Is a Novel Extracellular Matrix Protein That Binds to Fibrillin-1 and Promotes Fibrillin-1 Fibril Formation

Ko Tsutsui, Ri-ichiroh Manabe, Tomiko Yamada, Itsuko Nakano, Yasuko Oguri, Douglas R. Keene, Gerhard Sengle, Lynn Y. Sakai, Kiyotoshi Sekiguchi

J Biol Chem. 2010 Feb 12; 285(7): 4870–4882. Published online 2009 Nov 23. doi: 10.1074/jbc.M109.076919

PMCID:: PMC2836092

Abstract Article PDF–4.7M

Select item 273496415.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

L Faivre, G Collod-Beroud, B Callewaert, A Child, C Binquet, E Gautier, B L Loeys, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, J E Wolf, O Bouchot, P Khau-Van-Kien, C Beroud, M Claustres, C Bonithon-Kopp, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, G Jondeau, C Boileau

Eur J Hum Genet. 2009 Apr; 17(4): 491–501. Published online 2008 Nov 12. doi: 10.1038/ejhg.2008.207