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Select item 85360701.

Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

Stefano Nistri, Rosina De Cario, Elena Sticchi, Gaia Spaziani, Matteo Della Monica, Sabrina Giglio, Silvia Favilli, Betti Giusti, Pierluigi Stefano, Guglielmina Pepe

Genes (Basel) 2021 Oct; 12(10): 1462. Published online 2021 Sep 22. doi: 10.3390/genes12101462

PMCID:: PMC8536070

Abstract Article PDF–1.9M

Select item 42365742.

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani, Marina Venturini, Roberto Maroldi, Piergiacomo Calzavara-Pinton, Marina Colombi

BMC Med Genet. 2014; 15: 91. Published online 2014 Aug 28. doi: 10.1186/s12881-014-0091-8

PMCID:: PMC4236574

Abstract Article PDF–1.0M

Select item 110074853.

Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder

Jun W. Jeon, Julie Christensen, Jennifer Chisholm, Christopher Zalewski, Marjohn Rasooly, Caeden Dempsey, Alaina Magnani, Pamela Frischmeyer-Guerrerio, Carmen C. Brewer, Hung Jeffrey Kim

Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2024 Apr 11.

Published in final edited form as: Otolaryngol Head Neck Surg. 2022 Feb; 166(2): 357–362. Published online 2021 May 11. doi: 10.1177/01945998211008899

PMCID:: PMC11007485

Abstract Article PDF–345K

Select item 80498424.

Corneal thinning and cornea guttata in patients with mutations in TGFB2

Allen O. Eghrari, Marjohn M. Rasooly, Michael J. Fliotsos, Jessica Kinard, Obinna Odozor, Denise Cunningham, Rachel J. Bishop, Anthony L. Guerrerio, Pamela A. Frischmeyer-Guerrerio

Can J Ophthalmol. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Can J Ophthalmol. 2020 Aug; 55(4): 336–341. Published online 2020 Apr 16. doi: 10.1016/j.jcjo.2020.03.007

PMCID:: PMC8049842

Abstract Article PDF–381K

Select item 41305455.

Overexpression of Gremlin-1 in Patients with Loeys-Dietz Syndrome: Implications on Pathophysiology and Early Disease Detection

Jasmin Wellbrock, Sara Sheikhzadeh, Leticia Oliveira-Ferrer, Hauke Stamm, Mathias Hillebrand, Britta Keyser, Marianne Klokow, Gabi Vohwinkel, Veronika Bonk, Benjamin Otto, Thomas Streichert, Stefan Balabanov, Christian Hagel, Meike Rybczynski, Frank Bentzien, Carsten Bokemeyer, Yskert von Kodolitsch, Walter Fiedler

PLoS One. 2014; 9(8): e104742. Published online 2014 Aug 12. doi: 10.1371/journal.pone.0104742

PMCID:: PMC4130545

Abstract Article PDF–353K

Select item 60579816.

Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys–Dietz syndrome or multiple self-healing squamous epithelioma

Takayuki Fujiwara, Norifumi Takeda, Hironori Hara, Hiroyuki Morita, Jun Kishihara, Ryo Inuzuka, Hiroki Yagi, Sonoko Maemura, Haruhiro Toko, Mutsuo Harada, Yuichi Ikeda, Hidetoshi Kumagai, Seitaro Nomura, Eiki Takimoto, Hiroshi Akazawa, Junya Ako, Issei Komuro

Eur J Hum Genet. 2018 Aug; 26(8): 1151–1158. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0127-1

PMCID:: PMC6057981

Abstract Article PDF–1.4M

Select item 59518167.

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor

Nat Commun. 2018; 9: 1864. Published online 2018 May 14. doi: 10.1038/s41467-018-03646-6

Correction in:: Nat Commun. 2019; 10: 155.

PMCID:: PMC5951816

Abstract Article PDF–1.3M

Select item 54950308.

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

Margot A. Cousin, Michael T. Zimmermann, Angela J. Mathison, Patrick R. Blackburn, Nicole J. Boczek, Gavin R. Oliver, Gwen A. Lomberk, Raul A. Urrutia, David R. Deyle, Eric W. Klee

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001727. doi: 10.1101/mcs.a001727

PMCID:: PMC5495030

Abstract Article PDF–1.7M

Select item 52073169.

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Josephina A.N. Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W. Markham, Julie Vogt, Julie Richer, Luc M. Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C. Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L. Loeys

Genet Med. 2017 Apr; 19(4): 386–395. Published online 2016 Sep 15. doi: 10.1038/gim.2016.126

PMCID:: PMC5207316

Abstract Article PDF–2.5M

Select item 514907110.

A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression

Raya Al Maskari, Yasmin, S Cleary, Nikki Figg, Sarju Mehta, Doris Rassl, Ian Wilkinson, Kevin M O’Shaughnessy

Eur J Hum Genet. 2017 Jan; 25(1): 157–160. Published online 2016 Oct 26. doi: 10.1038/ejhg.2016.143

PMCID:: PMC5149071

Abstract Article PDF–1.7M

Select item 512507211.

Clinically Relevant Variants Identified in Thoracic Aortic Aneurysm Patients by Research Exome Sequencing

Jeffrey A. Schubert, Benjamin J. Landis, Amy R. Shikany, Robert B. Hinton, Stephanie M. Ware

Am J Med Genet A. Author manuscript; available in PMC 2016 Nov 28.

Published in final edited form as: Am J Med Genet A. 2016 May; 170A(5): 1288–1294. Published online 2016 Feb 7. doi: 10.1002/ajmg.a.37568

PMCID:: PMC5125072

Abstract Article PDF–553K

Select item 499246112.

Increased prevalence of inflammatory bowel disease in patients with mutations in genes encoding the receptor subunits for TGFβ

Anthony L. Guerrerio, Pamela A. Frischmeyer-Guerrerio, Chengrui Huang, Yuqiong Wu, Talin Haritunians, Dermot P.B. McGovern, Gretchen L. MacCarrick, Steven R. Brant, Harry C. Dietz

Inflamm Bowel Dis. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Inflamm Bowel Dis. 2016 Sep; 22(9): 2058–2062. doi: 10.1097/MIB.0000000000000872

PMCID:: PMC4992461

Abstract Article PDF–604K

Select item 463760313.

Long noncoding RNA AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway

Bo Yu, Long Liu, Huan Sun, Yu Chen

Int J Clin Exp Pathol. 2015; 8(9): 10768–10775. Published online 2015 Sep 1.

PMCID:: PMC4637603

Abstract Article PDF–654K

Select item 438032114.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Aida M. Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M.A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P.T. Kruithof, Hanka Venselaar, Loretha A. Myers, Steven Laga, Alexander J. Doyle, Gretchen Oswald, Gert W.A. van Cappellen, Itaru Yamanaka, Robert M. van der Helm, Berna Beverloo, Annelies de Klein, Luba Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Bruggenwirth, Frans Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert Hofstra, Marie Jose Goumans, Jos A. Bekkers, Jolien W. Roos-Hesselink, Ingrid M.B.H. van de Laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart L. Loeys

J Am Coll Cardiol. 2015 Apr 7; 65(13): 1324–1336. doi: 10.1016/j.jacc.2015.01.040

PMCID:: PMC4380321

Abstract Article

Select item 613916315.

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo

BMC Med Genet. 2018; 19: 170. Published online 2018 Sep 15. doi: 10.1186/s12881-018-0661-2