FLCN

Publications

1.    Gupta N et al. Birt-Hogg-Dube Syndrome. Clin Chest Med. 2016; 37: 475-86

2.    Menko FH et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009; 10: 1199-206

3.    Schmidt  LS, Linehan  WM. Molecular genetics and clinical features of Birt–Hogg–Dubé syndrome. Nat Rev Urol. 2015; 12: 558–569.

4.    European BHD Consortium. www.europeanbhdconsortium.org .

5.    Hornstein OP, Knickenberg M. Perifollicular fibromatosis cutis with polyps of the colon-a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res. 1975; 253: 161-175.

6.    Birt AR, Hogg GR, Dube WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol.1977; 113: 1674–7.

7.    Furuya M, Nakatani Y. Pathology of Birt-Hogg-Dube syndrome: A special reference of pulmonary manifestations in Japanese population with comprehensive analysis and review. Pathol Int. 2019; 69: 1-12

8.    Furuya M et al. Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. Clin Genet. 2016; 90: 403-412

9.    Houweling A et al. Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer. 2011; 105: 1912–1919.

10.    Iwabuchi C et al. Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts. J Dermatol Sci. 2018; 89: 77-84.

11.    Johannesma PC et al. Renal imaging in 199 Dutch patients with Birt–Hogg–Dubé syndrome: screening compliance and outcome. PLoS One. 2019; 14: e0212952.

12.    Kluger N et al. Birt–Hogg–Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol. 2010; 162: 527–537.

13.    Sattler EC, Steinlein OK. Birt-Hogg-Dubé Syndrome. 2020  w Adam MP, Ardinger HH, Pagon RA, i wsp. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. https://www.ncbi.nlm.nih.gov/books/NBK1522/

14.    Lee  JH et al. Birt–Hogg–Dubé syndrome in Korean: clinicoradiologic features and long-term follow-up. Korean J Intern Med. 2019; 34: 830–840

15.    Liu Y et al. Clinical and genetic characteristics of Chinese patients with Birt-Hogg-Dube syndrome. Orphanet J Rare Dis. 2017; 12: 104

16.    Daccord  C et al. Lung function in Birt–Hogg–Dubé syndrome: a retrospective analysis of 96 patients. Orphanet J Rare Dis. 2020; 15: 120.

17.    Toro JR et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008; 45: 321-331.

18.    Radzikowska E et al.  Familial pneumothoraces: Birt-Hogg-Dube syndrome. Pol Arch Int Med. 2016; 126: 897-898.

19.    Opoka L et al. Familial pneumothoraxes – Birt-Hogg-Dubé syndrome. Differentiation with other cystic lung diseases. Pol J Radiol. 2019; 84: e424-e429

20.    Radzikowska E et al. Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome. Orphanet J Rare Dis. 2021; 16:302.

21.    Gupta N et al. Spontaneous pneumothoraces in patients with Birt–Hogg–Dubé syndrome. Ann Am Thorac Soc. 2017; 14: 706–713

22.    Benhammou JN et al.  Identification of intragenic deletions and duplication in the FLCN gene in Birt–Hogg–Dubé syndrome. Genes Chromosomes Cancer. 2011; 50: 466–477.

23.    Khoo SK et al.  Birt–Hogg–Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene. 2001; 20: 5239–5242.

24.    Gunji Y et al. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet. 2007; 44: 588–93.

25.    Goncharova EA et al. Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK. Cell Rep. 2014; 7: 412–423.

26.    Kennedy JC et al. New developments in the pathogenesis of pulmonary cysts in Birt-Hogg-Dube syndrome. Semin Respir Crit Care Med. 2020; 41 :247-255

27.    Lim  DH et al. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. Hum Mutat. 2010; 31: E1043–E1051.

28.    Nahorski MS et al.  Birt–Hogg–Dubé syndrome-associated FLCN mutations disrupt protein stability. Hum Mutat. 2011; 32: 921–929.

29.    Nickerson  ML et al. Mutations in a novel gene lead to kidney tumours, lung wall defects, and benign tumours of the hair follicle in patients with the Birt–Hogg–Dubé syndrome. Cancer Cell. 2002; 2: 157–164.

30.    Painter JN et al. A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet. 2005; 76: 522-527.

31.    Khoo SK et al.  Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet. 2002; 39: 906-912

32.    Gupta N et al. Pulmonary manifestations of Birt-Hogg-Dube syndrome. Fam Cancer. 2013; 12: 387–396

33.    Toro JR et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. Am J Respir Crit Care Med. 2007;175: 1044–53

34.    Kunogi M et al. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet. 2010;47: 281–7.

35.    Furuyama M. Nakatani Y. Birt-Hogg-Dube syndrome: clinicopathological features of the lung. J Clin Pathol. 2013; 66: 178-86

36.    Ebana  H et al. Novel clinical scoring system to identify patients with pneumothorax with suspicion for Birt–Hogg–Dubé syndrome. Respirology. 2018; 23: 414–418

37.    Benusiglio PR et al. Renal cell tumour characteristics in patients with the Birt–Hogg–Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet J Rare Dis. 2014; 9: 163.

38.    van de Beek I et al. No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome. Brit J Cancer. 2020; 122: 590–594.

39.    Johannesma PC et al. Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome. Springerplus. 2016; 5: 1506.

40.    Zbar B et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube´ syndrome. Cancer Epid Biomarkers Prev. 2002; 11: 393–400