Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
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Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesisFolliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signalingIdentification and characterization of a novel folliculin-interacting protein FNIP2Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signalingBHD 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 spectrumKidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneysThe role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesisClinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndromeBirt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndromeUnusual causes of pneumothoraxRenal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.Novel recurrently mutated genes in African American colon cancers.Genetics of skin appendage neoplasms and related syndromes.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 familiesBirt-Hogg-Dubé Syndrome.Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.Genome-wide mutation profiles of colorectal tumors and associated liver metastases at the exome and transcriptome levels.Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline.Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinomaBirt-Hogg-Dubé syndrome: a rare cause of cystic lung diseases.Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.Familial syndromes coupling with small renal masses.A case of Birt-Hogg-Dubé syndromeMolecular genetics of hereditary renal cancer: new genes and diagnostic and therapeutic opportunities.Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibilityRecent developments in the treatment of renal cell carcinoma.Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.Birt-Hogg-Dubé syndrome: a case report and a review of the literature.Bilateral renal tumour as indicator for birt-hogg-dubé syndrome.Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion.Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
P2860
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P2860
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
@ast
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
@en
type
label
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
@ast
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
@en
prefLabel
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
@ast
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
@en
P2093
P2860
P50
P356
P1476
Clinical and genetic studies of Birt-Hogg-Dubé syndrome
@en
P2093
K Kahnoski
M-A Hedblad
P Wolkenstein
P2860
P304
P356
10.1136/JMG.39.12.906
P407
P577
2002-12-01T00:00:00Z