U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 383

1.
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Lynne Rumping, Marja W. Wessels, Alex V. Postma, Joost van Schuppen, Marjon A. van Slegtenhorst, Jasper J. Saris, J. Peter van Tintelen, Stephen P. Robertson, Mariëlle Alders, Saskia M. Maas, Ronald H. Lekanne Deprez
Am J Med Genet A. 2021 Dec; 185(12): 3814–3820. Published online 2021 Jul 13. doi: 10.1002/ajmg.a.62417
PMCID:
PMC9292317
AbstractArticlePDF–3.7M
2.
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
Umut Gerlevik, Ceren Saygı, Hakan Cangül, Aslı Kutlu, Erdal Fırat Çaralan, Yasemin Topçu, Nesrin Özören, Osman Uğur Sezerman
PLoS One. 2022; 17(5): e0265400. Published online 2022 May 25. doi: 10.1371/journal.pone.0265400
PMCID:
PMC9132340
AbstractArticlePDF–3.2M
3.
Filamin A expression correlates with proliferation and invasive properties of human metastatic melanoma tumors: implications for survival in patients
Kai Zhang, Tienian Zhu, Dongmei Gao, Yimei Zhang, Qinglan Zhao, Shuang Liu, Tongyi Su, Michel Bernier, Ruijing Zhao
J Cancer Res Clin Oncol. Author manuscript; available in PMC 2021 Oct 11.
Published in final edited form as: J Cancer Res Clin Oncol. 2014 Nov; 140(11): 1913–1926. Published online 2014 Jun 8. doi: 10.1007/s00432-014-1722-3
PMCID:
PMC8504314
AbstractArticlePDF–2.1M
4.
Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease
Amit S. Shah, Emily D. Black, Dawn M. Simon, Michael J. Gambello, Kathryn B. Garber, Glen J. Iannucci, Erica L. Riedesel, Ajay S. Kasi
Pediatr Allergy Immunol Pulmonol. March 2021; 34(1): 7–14. Published online 2021 Mar 17. doi: 10.1089/ped.2020.1280
PMCID:
PMC8082031
AbstractArticlePDF–281K
5.
Thoracic Aortic Aneurysm in Patients with Loss of Function Filamin A Mutations: Clinical Characterization, Genetics, and Recommendations
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Kirin Khalsa, Bernard Chang, Christopher A. Walsh
Am J Med Genet A. Author manuscript; available in PMC 2020 Oct 5.
Published in final edited form as: Am J Med Genet A. 2018 Feb; 176(2): 337–350. doi: 10.1002/ajmg.a.38580
PMCID:
PMC7534149
AbstractArticlePDF–1.3M
6.
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
AbstractArticlePDF–9.3M
7.
Non-syndromic Mitral Valve Dysplasia Mutation Changes the Force Resilience and Interaction of Human Filamin A
Tatu J.K. Haataja, Rafael C. Bernardi, Simon Lecointe, Romain Capoulade, Jean Merot, Ulla Pentikäinen
Structure. Author manuscript; available in PMC 2020 Jan 27.
Published in final edited form as: Structure. 2019 Jan 2; 27(1): 102–112.e4. Published online 2018 Oct 18. doi: 10.1016/j.str.2018.09.007
PMCID:
PMC6984350
AbstractArticlePDF–1.5M
8.
Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia
Tatu J.K. Haataja, Romain Capoulade, Simon Lecointe, Maarit Hellman, Jean Merot, Perttu Permi, Ulla Pentikäinen
Biophys J. 2019 Oct 15; 117(8): 1467–1475. Published online 2019 Aug 31. doi: 10.1016/j.bpj.2019.08.032
PMCID:
PMC6817519
AbstractArticlePDF–1.3M
9.
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez, M. L. Couce
BMC Med Genet. 2019; 20: 112. Published online 2019 Jun 24. doi: 10.1186/s12881-019-0844-5
PMCID:
PMC6591933
AbstractArticlePDF–1.8M
10.
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
BMC Med Genet. 2018; 19: 140. Published online 2018 Aug 8. doi: 10.1186/s12881-018-0655-0
PMCID:
PMC6083619
AbstractArticlePDF–5.9M
11.
Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation
Wenyu Liu, Dongmei An, Running Niu, Qiyong Gong, Dong Zhou
Neuroimage Clin. 2018; 17: 109–114. Published online 2017 Oct 13. doi: 10.1016/j.nicl.2017.10.002
PMCID:
PMC5647519
AbstractArticlePDF–562K
12.
A Distinct X-Linked Syndrome Involving Joint Contractures, Keloids, Large Optic Cup-to-Disc Ratio, and Renal Stones Results From a Filamin A (FLNA) Mutation
Melissa Lah, Tejasvi Niranjan, Sujata Srikanth, Lynda Holloway, Charles E. Schwartz, Tao Wang, David D. Weaver
Am J Med Genet A. Author manuscript; available in PMC 2017 Aug 9.
Published in final edited form as: Am J Med Genet A. 2016 Apr; 170A(4): 881–890. Published online 2016 Jan 24. doi: 10.1002/ajmg.a.37567
PMCID:
PMC5549633
AbstractArticlePDF–853K
13.
Lung Transplantation for FLNA-Associated Progressive Lung Disease
Lindsay C. Burrage, R. Paul Guillerman, Shailendra Das, Shipra Singh, Deborah A. Schady, Shaine A. Morris, Magdalena Walkiewicz, Marc G. Schecter, Jeffrey S. Heinle, Timothy E. Lotze, Seema R. Lalani, George B. Mallory
J Pediatr. Author manuscript; available in PMC 2018 Jul 1.
Published in final edited form as: J Pediatr. 2017 Jul; 186: 118–123.e6. Published online 2017 Apr 28. doi: 10.1016/j.jpeds.2017.03.045
PMCID:
PMC5534178
AbstractArticlePDF–382K
14.
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A
Sujay S. Ithychanda, Kevin Dou, Stephen P. Robertson, Jun Qin
J Biol Chem. 2017 May 19; 292(20): 8390–8400. Published online 2017 Mar 27. doi: 10.1074/jbc.M117.776740
PMCID:
PMC5437244
AbstractArticlePDF–2.7M
15.
Cytoskeletal Filamin A Differentially Modulates RNA Polymerase III Gene Transcription in Transformed Cell Lines
Juan Wang, Shasha Zhao, Yun Wei, Ying Zhou, Paul Shore, Wensheng Deng
J Biol Chem. 2016 Nov 25; 291(48): 25239–25246. Published online 2016 Oct 13. doi: 10.1074/jbc.M116.735886
PMCID:
PMC5122789
AbstractArticlePDF–1.8M
16.
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
AbstractArticlePDF–724K
17.
47 patients with FLNA associated periventricular nodular heterotopia
Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, Andreas Ferbert, Andreas Hahn, Barbara Oehl-Jaschkowitz, Luitgard Graul-Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller, Ulrike Siebers-Renelt, Ana Beleza-Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Juergen Winkler, Gerhard Schuierer, Ute Hehr
Orphanet J Rare Dis. 2015; 10: 134. Published online 2015 Oct 15. doi: 10.1186/s13023-015-0331-9
PMCID:
PMC4608144
AbstractArticlePDF–2.2M
18.
Significance of filamin A in mTORC2 function in glioblastoma
Naphat Chantaravisoot, Piriya Wongkongkathep, Joseph A. Loo, Paul S. Mischel, Fuyuhiko Tamanoi
Mol Cancer. 2015; 14: 127. Published online 2015 Jul 2. doi: 10.1186/s12943-015-0396-z
PMCID:
PMC4489161
AbstractArticlePDF–1.5M
19.
New cancer suppressor gene for colorectal adenocarcinoma: Filamin A
Zi-Qiang Tian, Jian-Wei Shi, Xiao-Ran Wang, Zhong Li, Gui-Ying Wang
World J Gastroenterol. 2015 Feb 21; 21(7): 2199–2205. Published online 2015 Feb 21. doi: 10.3748/wjg.v21.i7.2199
PMCID:
PMC4326159
AbstractArticlePDF–954K
20.
Force-dependent isomerization kinetics of a highly conserved proline switch modulates the mechanosensing region of filamin
Lorenz Rognoni, Tobias Möst, Gabriel Žoldák, Matthias Rief
Proc Natl Acad Sci U S A. 2014 Apr 15; 111(15): 5568–5573. Published online 2014 Apr 2. doi: 10.1073/pnas.1319448111
PMCID:
PMC3992639
AbstractArticlePDF–1.2M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center