PMC Links for Protein (Select 160420317) - PMC

Select item 70356691.

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

Nida S. Iqbal, Thomas A. Jascur, Steven M. Harrison, Angelena B. Edwards, Luke T. Smith, Erin S. Choi, Michelle K. Arevalo, Catherine Chen, Shaohua Zhang, Adam J. Kern, Angela E. Scheuerle, Emma J. Sanchez, Chao Xing, Linda A. Baker

BMC Med Genet. 2020; 21: 38. Published online 2020 Feb 21. doi: 10.1186/s12881-020-0973-x

PMCID:: PMC7035669

Abstract Article PDF–9.3M

Select item 67551682.

Filamin A regulates EGFR/ERK/Akt signaling and affects colorectal cancer cell growth and migration

Kun Wang, Tie-Nian Zhu, Rui-Jing Zhao

Mol Med Rep. 2019 Oct; 20(4): 3671–3678. Published online 2019 Aug 27. doi: 10.3892/mmr.2019.10622

Retraction in:: Mol Med Rep. 2022 Aug; 26(2): 254.

PMCID:: PMC6755168

Abstract Article

Select item 69566343.

Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings

I Joksic, G Cuturilo, A Jurisic, S Djuricic, B Peterlin, M Mijovic, Orlic N Karadzov, A Egic, Z Milovanovic

Balkan J Med Genet. 2019 Dec; 22(2): 83–88. Published online 2019 Dec 21. doi: 10.2478/bjmg-2019-0024

PMCID:: PMC6956634

Abstract Article PDF–956K

Select item 60893384.

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

Giulia Campostrini, Jacopo C. DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco

Front Mol Neurosci. 2018; 11: 269. Published online 2018 Aug 6. doi: 10.3389/fnmol.2018.00269

PMCID:: PMC6089338

Abstract Article PDF–3.0M

Select item 59055895.

New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study

Thierry Le Tourneau, Solena Le Scouarnec, Caroline Cueff, Daniel Bernstein, Jan J J Aalberts, Simon Lecointe, Jean Mérot, Jonathan A Bernstein, Toon Oomen, Christian Dina, Matilde Karakachoff, Hubert Desal, Ousama Al Habash, Francesca N Delling, Romain Capoulade, Albert J H Suurmeijer, David Milan, Russell A Norris, Roger Markwald, Elena Aikawa, Susan A Slaugenhaupt, Xavier Jeunemaitre, Albert Hagège, Jean-Christian Roussel, Jean-Noël Trochu, Robert A Levine, Florence Kyndt, Vincent Probst, Hervé Le Marec, Jean-Jacques Schott

Eur Heart J. 2018 Apr 14; 39(15): 1269–1277. Published online 2017 Sep 6. doi: 10.1093/eurheartj/ehx505

PMCID:: PMC5905589

Abstract Article PDF–782K

Select item 47553706.

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

Hirotsugu Oda, Tatsuhiro Sato, Shinji Kunishima, Kenji Nakagawa, Kazushi Izawa, Eitaro Hiejima, Tomoki Kawai, Takahiro Yasumi, Hiraku Doi, Kenji Katamura, Hironao Numabe, Shinya Okamoto, Hiroshi Nakase, Atsushi Hijikata, Osamu Ohara, Hidenori Suzuki, Hiroko Morisaki, Takayuki Morisaki, Hiroyuki Nunoi, Seisuke Hattori, Ryuta Nishikomori, Toshio Heike

Eur J Hum Genet. 2016 Mar; 24(3): 408–414. Published online 2015 Jun 10. doi: 10.1038/ejhg.2015.119

PMCID:: PMC4755370

Abstract Article PDF–724K

Select item 43955167.

Whole exome sequence analysis of Peters anomaly

Eric Weh, Linda M. Reis, Hannah C. Happ, Alex V. Levin, Patricia G. Wheeler, Karen L. David, Erin Carney, Brad Angle, Natalie Hauser, Elena V. Semina

Hum Genet. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Hum Genet. 2014 Dec; 133(12): 1497–1511. Published online 2014 Sep 3. doi: 10.1007/s00439-014-1481-x

PMCID:: PMC4395516

Abstract Article PDF–2.5M

Select item 31005998.

Differential Recruitment of Nuclear Coregulators Directs the Isoform-Dependent Action of Mutant Thyroid Hormone Receptors

Laura Fozzatti, Changxue Lu, Dong-Wook Kim, Sheue-yann Cheng

Mol Endocrinol. 2011 Jun; 25(6): 908–921. Published online 2011 Apr 7. doi: 10.1210/me.2010-0474

PMCID:: PMC3100599

Abstract Article

Select item 30103969.

Allelic diversity in human developmental neurogenetics: insights into biology and disease

Christopher A. Walsh, Elizabeth C. Engle

Neuron. Author manuscript; available in PMC 2011 Apr 21.

Published in final edited form as: Neuron. 2010 Oct 21; 68(2): 245–253. doi: 10.1016/j.neuron.2010.09.042

PMCID:: PMC3010396

Abstract Article PDF–428K

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