Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. - Wikidata - awgldk - TriplyDB

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

http://www.wikidata.org/entity/Q37429054

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Ciliogenesis and the DNA damage response: a stressful relationship The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome Birt-Hogg-Dubé syndrome in an Indonesian patient with folliculin gene mutation.Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.Sixth BHD Symposium and First International Upstate Kidney Cancer Symposium: latest scientific and clinical discoveries.Genome-wide DNA methylation analysis during non-alcoholic steatohepatitis-related multistage hepatocarcinogenesis: comparison with hepatitis virus-related carcinogenesis.Control of B lymphocyte development and functions by the mTOR signaling pathways.Mechanisms of ciliogenesis suppression in dividing cells Genetic predisposition to kidney cancer.Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective.Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.Recurrent Mutations in the MTOR Regulator RRAGC in Follicular Lymphoma.Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax.Folliculin - A tumor suppressor at the intersection of metabolic signaling and membrane traffic.Folliculin Interacts with Rab35 to Regulate EGF-Induced EGFR Degradation.FLCN: The causative gene for Birt-Hogg-Dubé syndrome.Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel-Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127).Cystic Kidney Diseases From the Adult Nephrologist's Point of View.Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.Chronic peritoneal inflammation and nodules masquerading as peritoneal carcinomatosis in Birt-Hogg-Dube syndrome.Update on Genetic Conditions Affecting the Skin and the Kidneys.Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.Sporadic renal angiomyolipoma in a patient with Birt-Hogg-Dubé: chaperones in pathogenesis.Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation.

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Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

http://www.wikidata.org/entity/Q37429054

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on September 2015

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

@en

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

@nl

type

label

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

@en

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

@nl

prefLabel

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

@en

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

@nl

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NRUROL.2015.206

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Nature Reviews Urology

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Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

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Laura S Schmidt

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W Marston Linehan

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P2860

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis

Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer

FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation

Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA

Serine 62 is a phosphorylation site in folliculin, the Birt-Hogg-Dubé gene product

The armadillo protein p0071 regulates Rho signalling during cytokinesis

Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein

Identification and characterization of a novel folliculin-interacting protein FNIP2

Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization

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nrurol.2015.206

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558-569

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10.1038/NRUROL.2015.206

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