A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
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Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesisBirt-Hogg-Dube syndrome: clinicopathological features of the lungFrameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literatureGenetic interstitial lung diseaseBHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reportsGenotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumThe role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesisFolliculin mutations are not associated with severe COPD.Diffuse Cystic Lung Disease. Part II.Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting featureFolliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion.Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells.Microarray-based ultra-high resolution discovery of genomic deletion mutationsPulmonary manifestations of Birt-Hogg-Dubé syndrome.The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndromeRenal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD familiesLung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndromeMulticentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax.Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression.Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothoraxGenetic counseling in renal masses.Transforming growth factor-beta receptor-3 is associated with pulmonary emphysema.A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.Birt-Hogg-Dubé syndrome: a case report and a review of the literature.Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature.A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax.Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.Primary spontaneous pneumothorax due to high bleb burden.Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndromeClinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax.Distinguishing the histological and radiological features of cystic lung disease in Birt-Hogg-Dubé syndrome from those of tobacco-related spontaneous pneumothorax.Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome.Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function.The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe.
P2860
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P2860
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A 4-bp deletion in the Birt-Ho ...... ited spontaneous pneumothorax.
@ast
A 4-bp deletion in the Birt-Ho ...... ited spontaneous pneumothorax.
@en
type
label
A 4-bp deletion in the Birt-Ho ...... ited spontaneous pneumothorax.
@ast
A 4-bp deletion in the Birt-Ho ...... ited spontaneous pneumothorax.
@en
prefLabel
A 4-bp deletion in the Birt-Ho ...... ited spontaneous pneumothorax.
@ast
A 4-bp deletion in the Birt-Ho ...... ited spontaneous pneumothorax.
@en
P2093
P2860
P356
P1476
A 4-bp deletion in the Birt-Ho ...... ited spontaneous pneumothorax.
@en
P2093
Hanna Tapanainen
Jodie N Painter
Mirja Somer
Pentti Tukiainen
P2860
P304
P356
10.1086/428455
P407
P577
2005-01-18T00:00:00Z