Lung disease associated with filamin A gene mutation: a case report-Reference-Cited by-同舟云学术

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Lung disease associated with filamin A gene mutation: a case report

Published:2016-04-18 Issue:1 Volume:10 Page:
ISSN:1752-1947
Container-title:Journal of Medical Case Reports
language:en
Short-container-title:J Med Case Reports

Author:

Eltahir Safa,Ahmad Khalid S.,Al-Balawi Mohammed M.,Bukhamsien Hussien,Al-Mobaireek Khalid,Alotaibi Wadha,Al-Shamrani Abdullah

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13256-016-0871-1

Reference17 articles.

1. Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, et al. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. Eur J Med Genet. 2011;54:25–8.

2. Feng Y, Walsh CA. The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol. 2004;6:1034–8.

3. Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315–25.

4. Roberson S, Twigg S, Sutherland-Smith A, Biancalana V, Gorlin R, Horn D, et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003;33:487–91.

5. Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001;10:1775–83.

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2. Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip;DNA and Cell Biology;2023-10-01

3. Deficiency of filamin A in smooth muscle cells protects against hypoxia‑mediated pulmonary hypertension in mice;International Journal of Molecular Medicine;2023-01-26

4. Heterogenous Disease Course and Long-Term Outcome of Children’s Interstitial Lung Disease Related to Filamin A Gene Variants;Annals of the American Thoracic Society;2022-12

5. Case report: Filamin A mutation lung disease recognized in an 11‐year‐old child;Pediatric Pulmonology;2022-11-07

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