Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

scientific article published on 20 February 2017

Birt-Hogg-Dubé syndrome: a case report and a review of the literature. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1080/20018525.2017.1292378
P932PMC publication ID5345590
P698PubMed publication ID28326182

P50authorAnne-Bine SkytteQ47502231
Elisabeth BendstrupQ56285518
Mette SommerlundQ87628736
P2093author name stringMia Gebauer Madsen
Anders Villumsen
Dea Kejlberg Jensen
P2860cites workFolliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signalingQ24306277
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Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPasesQ37208207
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Pulmonary features of Birt-Hogg-Dubé syndrome: cystic lesions and pulmonary histiocytoma.Q37847732
Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndromeQ40519705
Pleural Covering Application for Recurrent Pneumothorax in a Patient with Birt-Hogg-Dubé SyndromeQ41912903
Distinguishing the histological and radiological features of cystic lung disease in Birt-Hogg-Dubé syndrome from those of tobacco-related spontaneous pneumothoraxQ42447325
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French familiesQ42460545
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.Q43267274
Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndromeQ43920137
Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 femalesQ44961734
Novel mutations in the folliculin gene associated with spontaneous pneumothorax.Q46519211
Renal oncocytosis: a clinicopathological and cytogenetic study of 42 tumours occurring in 11 patients.Q52878166
Radiological findings in Birt-Hogg-Dubé syndrome: a rare differential for pulmonary cysts and renal tumors.Q53506745
The distribution of histological subtypes of renal tumors by decade of life using the 2004 WHO classification.Q53511149
Disruption of tubular Flcn expression as a mouse model for renal tumor induction.Q54265167
Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families.Q54521867
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.Q55033345
Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.Q55035109
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.Q55035771
A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.Q55037822
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.Q55040958
Renal Tumors in the Birt-Hogg-Dubé SyndromeQ58376206
Facial and Upper Body Papules in a Patient With a Family History of Recurrent PneumothoraxQ60447766
A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndromeQ79224050
Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndromeQ81369238
Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndromeQ81634316
Thoracic CT findings in Birt-Hogg-Dube syndromeQ83272374
Fibrofolliculoma/trichodiscoma and fibrous papule (perifollicular fibroma/angiofibroma): a revaluation of the histopathological and immunohistochemical featuresQ84392564
Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patientsQ84588653
The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: a hypothesisQ85743170
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndromeQ28219681
Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2Q28508427
Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculinQ28585144
The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesisQ28590041
Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcriptionQ28595056
Common benign skin tumors.Q30890244
Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laserQ30951130
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experienceQ31931252
Folliculin mutations are not associated with severe COPD.Q33396563
Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndromeQ33468846
Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trialQ33728003
Diffuse Cystic Lung Disease. Part II.Q33735622
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothoraxQ33938690
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndromeQ33938826
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.Q34020592
Management of spontaneous pneumothorax: British Thoracic Society Pleural Disease Guideline 2010.Q34130517
Hereditary Multiple Fibrofolliculomas With Trichodiscomas and AcrochordonsQ34242785
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting featureQ34308406
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre studyQ34447213
Management of pneumothorax in lymphangioleiomyomatosis: effects on recurrence and lung transplantation complications.Q34523608
Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patientsQ34541274
Birt-Hogg-Dubé syndrome: diagnosis and managementQ35015888
Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndromeQ35223894
Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with FlcnQ35279496
Pulmonary manifestations of Birt-Hogg-Dubé syndrome.Q35536837
Birt-Hogg-Dubé syndrome: A review of the literature and the differential diagnosis of firm facial papulesQ35545027
EAU guidelines on renal cell carcinoma: 2014 update.Q35548292
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.Q35559819
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD familiesQ35653949
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndromeQ35855144
Targeting the mTOR pathway in Chromophobe Kidney CancerQ35872175
The Birt-Hogg-Dubé cancer predisposition syndrome: Current challengesQ36031778
Birt-Hogg-Dubé syndrome: report of a new mutationQ36161088
Birt-Hogg-Dubé SyndromeQ36230749
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P921main subjectcase reportQ2782326
P304page(s)1292378
P577publication date2017-02-20
P1433published inEuropean clinical respiratory journalQ27726792
P1476titleBirt-Hogg-Dubé syndrome: a case report and a review of the literature
P478volume4

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cites work (P2860)
Q90449587A Case of Birt-Hogg-Dubé Syndrome and Multiple Intracranial Aneurysms
Q50034737Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature
Q99609358Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules
Q92627624Prosthetic Aortic Valve Endocarditis in a Patient With Birt-Hogg-Dube Syndrome due to Lactobacillus paracasei
Q47128041Recurrent renal cancer in Birt-Hogg-Dubé syndrome: A case report
Q94102600Ulster Society of Internal Medicine 96th (Spring) Meeting Friday 18th May 2018: Altnagelvin Hospital

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