PMC Articles for MedGen (Select 766662) - PMC

Select item 79846531.

Ex Vivo Models to Decipher the Molecular Mechanisms of Genetic Notch Cardiovascular Disorders

Tommaso Ristori, Marika Sjöqvist, Cecilia M. Sahlgren

Tissue Eng Part C Methods. March 2021; 27(3): 167–176. Published online 2021 Mar 15. doi: 10.1089/ten.tec.2020.0327

PMCID:: PMC7984653

Select item 65482852.

Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases

Berati Cerikan, Elmar Schiebel

Small GTPases. 2019 May; 10(3): 210–217. Published online 2017 Mar 13. doi: 10.1080/21541248.2017.1297882

PMCID:: PMC6548285

Abstract Article PDF–1.0M

Select item 61753643.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

Josephina A.N. Meester, Maja Sukalo, Kim C. Schröder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C. Bramswig, Duygu Duman, Brigitte Gilbert‐Dussardier, Muriel Holder‐Espinasse, Peter Itin, Diana S. Johnson, Shelagh Joss, Hannele Koillinen, Fiona McKenzie, Jenny Morton, Heike Nelle, Willie Reardon, Claudia Roll, Mustafa A. Salih, Ravi Savarirayan, Ingrid Scurr, Miranda Splitt, Elizabeth Thompson, Hannah Titheradge, Colm P. Travers, Lionel Van Maldergem, Margo Whiteford, Dagmar Wieczorek, Geert Vandeweyer, Richard Trembath, Lut Van Laer, Bart L. Loeys, Martin Zenker, Laura Southgate, Wim Wuyts

Hum Mutat. 2018 Sep; 39(9): 1246–1261. Published online 2018 Jul 4. doi: 10.1002/humu.23567

PMCID:: PMC6175364

Abstract Article PDF–565K

Select item 45649894.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Josephina A.N. Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J.A. Beekmans, Nicolette den Hollander, Emilia K. Bijlsma, Appolonia Helderman-van den Enden, Joke B.G.M. Verheij, Gustavo Glusman, Jared C. Roach, Anna Lehman, Millan S. Patel, Bert B.A. de Vries, Claudia Ruivenkamp, Peter Itin, Katrina Prescott, Sheila Clarke, Richard Trembath, Martin Zenker, Maja Sukalo, Lut Van Laer, Bart Loeys, Wim Wuyts

Am J Hum Genet. 2015 Sep 3; 97(3): 475–482. Published online 2015 Aug 20. doi: 10.1016/j.ajhg.2015.07.015

PMCID:: PMC4564989

Abstract Article PDF–1.2M

Select item 45455185.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies

Laura Southgate, Maja Sukalo, Anastasios S.V. Karountzos, Edward J. Taylor, Claire S. Collinson, Deborah Ruddy, Katie M. Snape, Bruno Dallapiccola, John L. Tolmie, Shelagh Joss, Francesco Brancati, M. Cristina Digilio, Luitgard M. Graul-Neumann, Leonardo Salviati, Wiltrud Coerdt, Emmanuel Jacquemin, Wim Wuyts, Martin Zenker, Rajiv D. Machado, Richard C. Trembath

Circ Cardiovasc Genet. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Circ Cardiovasc Genet. 2015 Aug; 8(4): 572–581. Published online 2015 May 11. doi: 10.1161/CIRCGENETICS.115.001086

PMCID:: PMC4545518

Abstract Article PDF–2.0M

Select item 43036666.

Impaired O-Linked N-Acetylglucosaminylation in the Endoplasmic Reticulum by Mutated Epidermal Growth Factor (EGF) Domain-specific O-Linked N-Acetylglucosamine Transferase Found in Adams-Oliver Syndrome

Mitsutaka Ogawa, Shogo Sawaguchi, Takami Kawai, Daita Nadano, Tsukasa Matsuda, Hirokazu Yagi, Koichi Kato, Koichi Furukawa, Tetsuya Okajima

J Biol Chem. 2015 Jan 23; 290(4): 2137–2149. Published online 2014 Dec 8. doi: 10.1074/jbc.M114.598821

PMCID:: PMC4303666

Abstract Article PDF–2.8M

Select item 41571587.

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Anna-Barbara Stittrich, Anna Lehman, Dale L. Bodian, Justin Ashworth, Zheyuan Zong, Hong Li, Patricia Lam, Alina Khromykh, Ramaswamy K. Iyer, Joseph G. Vockley, Rajiv Baveja, Ermelinda Santos Silva, Joanne Dixon, Eyby L. Leon, Benjamin D. Solomon, Gustavo Glusman, John E. Niederhuber, Jared C. Roach, Millan S. Patel

Am J Hum Genet. 2014 Sep 4; 95(3): 275–284. doi: 10.1016/j.ajhg.2014.07.011

PMCID:: PMC4157158

Abstract Article PDF–1.6M

Select item 39252828.

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

Idan Cohen, Eldad Silberstein, Yonatan Perez, Daniella Landau, Khalil Elbedour, Yshaia Langer, Rotem Kadir, Michael Volodarsky, Sara Sivan, Ginat Narkis, Ohad S Birk

Eur J Hum Genet. 2014 Mar; 22(3): 374–378. Published online 2013 Jul 17. doi: 10.1038/ejhg.2013.159

PMCID:: PMC3925282

Abstract Article PDF–1.3M

Select item 34155359.

RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

Susan J. Hassed, Graham B. Wiley, Shaofeng Wang, Ji-Yun Lee, Shibo Li, Weihong Xu, Zhizhuang J. Zhao, John J. Mulvihill, James Robertson, James Warner, Patrick M. Gaffney

Am J Hum Genet. 2012 Aug 10; 91(2): 391–395. doi: 10.1016/j.ajhg.2012.07.005

PMCID:: PMC3415535

Abstract Article PDF–237K

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