-
1
-
-
0035939821
-
Birt-Hogg-Dube syndrome: Mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2
-
Khoo SK, Bradley M, Wong FK, Hedblad MA, Nordenskjold M, Teh BT. Birt-Hogg-Dube syndrome: Mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 2001; 20: 5239-5242.
-
(2001)
Oncogene
, vol.20
, pp. 5239-5242
-
-
Khoo, S.K.1
Bradley, M.2
Wong, F.K.3
Hedblad, M.A.4
Nordenskjold, M.5
Teh, B.T.6
-
2
-
-
0034821623
-
Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
-
Schmidt LS, Warren MB, Nickerson ML etal. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001; 69: 876-882.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 876-882
-
-
Schmidt, L.S.1
Warren, M.B.2
Nickerson, M.L.3
-
3
-
-
0000939691
-
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-Dube syndrome
-
Nickerson ML, Warren MB, Toro JR etal. 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-Dube syndrome. Cancer Cell 2002; 2: 157-164.
-
(2002)
Cancer Cell
, vol.2
, pp. 157-164
-
-
Nickerson, M.L.1
Warren, M.B.2
Toro, J.R.3
-
4
-
-
33750293584
-
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
-
Baba M, Hong SB, Sharma N etal. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A 2006; 103: 15552-15557.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 15552-15557
-
-
Baba, M.1
Hong, S.B.2
Sharma, N.3
-
5
-
-
42649092576
-
Identification and characterization of a novel folliculin-interacting protein FNIP2
-
Hasumi H, Baba M, Hong SB etal. Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene 2008; 415: 60-67.
-
(2008)
Gene
, vol.415
, pp. 60-67
-
-
Hasumi, H.1
Baba, M.2
Hong, S.B.3
-
6
-
-
51649122895
-
Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein
-
Takagi Y, Kobayashi T, Shiono M etal. Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. Oncogene 2008; 27: 5339-5347.
-
(2008)
Oncogene
, vol.27
, pp. 5339-5347
-
-
Takagi, Y.1
Kobayashi, T.2
Shiono, M.3
-
7
-
-
45249103326
-
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: A new series of 50 families and a review of published reports
-
Toro JR, Wei MH, Glenn GM etal. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: A new series of 50 families and a review of published reports. J Med Genet 2008; 45: 321-331.
-
(2008)
J Med Genet
, vol.45
, pp. 321-331
-
-
Toro, J.R.1
Wei, M.H.2
Glenn, G.M.3
-
8
-
-
77952263737
-
The genetic basis of kidney cancer: A metabolic disease
-
Linehan WM, Srinivasan R, Schmidt LS. The genetic basis of kidney cancer: A metabolic disease. Nat Rev Urol 2010; 7: 277-285.
-
(2010)
Nat Rev Urol
, vol.7
, pp. 277-285
-
-
Linehan, W.M.1
Srinivasan, R.2
Schmidt, L.S.3
-
9
-
-
64049090204
-
The role of the Birt-Hogg-Dube protein in mTOR activation and renal tumorigenesis
-
Hartman TR, Nicolas E, Klein-Szanto A etal. The role of the Birt-Hogg-Dube protein in mTOR activation and renal tumorigenesis. Oncogene 2009; 28: 1594-1604.
-
(2009)
Oncogene
, vol.28
, pp. 1594-1604
-
-
Hartman, T.R.1
Nicolas, E.2
Klein-Szanto, A.3
-
10
-
-
33645579696
-
Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dube syndrome
-
Kouchi M, Okimoto K, Matsumoto I, Tanaka K, Yasuba M, Hino O. Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dube syndrome. Virchows Arch 2006; 448: 463-471.
-
(2006)
Virchows Arch
, vol.448
, pp. 463-471
-
-
Kouchi, M.1
Okimoto, K.2
Matsumoto, I.3
Tanaka, K.4
Yasuba, M.5
Hino, O.6
-
11
-
-
21444432561
-
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors
-
Vocke CD, Yang Y, Pavlovich CP etal. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J Natl Cancer Inst 2005; 97: 931-935.
-
(2005)
J Natl Cancer Inst
, vol.97
, pp. 931-935
-
-
Vocke, C.D.1
Yang, Y.2
Pavlovich, C.P.3
-
12
-
-
33847034141
-
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dube patients
-
van Steensel MA, Verstraeten VL, Frank J etal. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dube patients. J Invest Dermatol 2007; 127: 588-593.
-
(2007)
J Invest Dermatol
, vol.127
, pp. 588-593
-
-
van Steensel, M.A.1
Verstraeten, V.L.2
Frank, J.3
-
13
-
-
70349515966
-
Lung cysts in Birt-Hogg-Dube syndrome: Histopathological characteristics and aberrant sequence repeats
-
Koga S, Furuya M, Takahashi Y etal. Lung cysts in Birt-Hogg-Dube syndrome: Histopathological characteristics and aberrant sequence repeats. Pathol Int 2009; 59: 720-728.
-
(2009)
Pathol Int
, vol.59
, pp. 720-728
-
-
Koga, S.1
Furuya, M.2
Takahashi, Y.3
-
14
-
-
84859066969
-
Pulmonary Cysts of Birt-Hogg-Dube Syndrome: A Clinicopathologic and Immunohistochemical Study of 9 Families
-
Furuya M, Tanaka R, Koga S etal. Pulmonary Cysts of Birt-Hogg-Dube Syndrome: A Clinicopathologic and Immunohistochemical Study of 9 Families. Am J Surg Pathol 2012; 36: 589-600.
-
(2012)
Am J Surg Pathol
, vol.36
, pp. 589-600
-
-
Furuya, M.1
Tanaka, R.2
Koga, S.3
-
15
-
-
11244297916
-
Dysregulation of the TSC-mTOR pathway in human disease
-
Inoki K, Corradetti MN, Guan KL. Dysregulation of the TSC-mTOR pathway in human disease. Nat Genet 2005; 37: 19-24.
-
(2005)
Nat Genet
, vol.37
, pp. 19-24
-
-
Inoki, K.1
Corradetti, M.N.2
Guan, K.L.3
-
16
-
-
38449122032
-
Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys
-
Baba M, Furihata M, Hong SB etal. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst 2008; 100: 140-154.
-
(2008)
J Natl Cancer Inst
, vol.100
, pp. 140-154
-
-
Baba, M.1
Furihata, M.2
Hong, S.B.3
-
17
-
-
77949681085
-
Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin
-
Hudon V, Sabourin S, Dydensborg AB etal. Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin. J Med Genet 2010; 47: 182-189.
-
(2010)
J Med Genet
, vol.47
, pp. 182-189
-
-
Hudon, V.1
Sabourin, S.2
Dydensborg, A.B.3
-
18
-
-
55849108854
-
Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia
-
Chen J, Futami K, Petillo D etal. Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. PLoS One 2008; 3: e3581.
-
(2008)
PLoS One
, vol.3
-
-
Chen, J.1
Futami, K.2
Petillo, D.3
-
19
-
-
34548833570
-
Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax
-
Gunji Y, Akiyoshi T, Sato T etal. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet 2007; 44: 588-593.
-
(2007)
J Med Genet
, vol.44
, pp. 588-593
-
-
Gunji, Y.1
Akiyoshi, T.2
Sato, T.3
-
20
-
-
77951520377
-
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature
-
Kunogi M, Kurihara M, Ikegami TS etal. 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: 281-287.
-
(2010)
J Med Genet
, vol.47
, pp. 281-287
-
-
Kunogi, M.1
Kurihara, M.2
Ikegami, T.S.3
-
21
-
-
73249138930
-
Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2
-
Hasumi Y, Baba M, Ajima R etal. Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proc Natl Acad Sci U S A 2009; 106: 18722-18727.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 18722-18727
-
-
Hasumi, Y.1
Baba, M.2
Ajima, R.3
-
22
-
-
79952536485
-
Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
-
Preston RS, Philp A, Claessens T etal. Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene 2011; 30: 1159-1173.
-
(2011)
Oncogene
, vol.30
, pp. 1159-1173
-
-
Preston, R.S.1
Philp, A.2
Claessens, T.3
-
23
-
-
77958104850
-
Birt-Hogg-Dube syndrome with multiple cysts and recurrent pneumothorax: Pathological findings
-
Hayashi M, Takayanagi N, Ishiguro T, Sugita Y, Kawabata Y, Fukuda Y. Birt-Hogg-Dube syndrome with multiple cysts and recurrent pneumothorax: Pathological findings. Intern Med 2010; 49: 2137-2142.
-
(2010)
Intern Med
, vol.49
, pp. 2137-2142
-
-
Hayashi, M.1
Takayanagi, N.2
Ishiguro, T.3
Sugita, Y.4
Kawabata, Y.5
Fukuda, Y.6
-
24
-
-
3142594193
-
The LKB1 tumor suppressor negatively regulates mTOR signaling
-
Shaw RJ, Bardeesy N, Manning BD etal. The LKB1 tumor suppressor negatively regulates mTOR signaling. Cancer Cell 2004; 6: 91-99.
-
(2004)
Cancer Cell
, vol.6
, pp. 91-99
-
-
Shaw, R.J.1
Bardeesy, N.2
Manning, B.D.3
-
25
-
-
41349114071
-
LKB1 signaling in mesenchymal cells required for suppression of gastrointestinal polyposis
-
Katajisto P, Vaahtomeri K, Ekman N etal. LKB1 signaling in mesenchymal cells required for suppression of gastrointestinal polyposis. Nat Genet 2008; 40: 455-459.
-
(2008)
Nat Genet
, vol.40
, pp. 455-459
-
-
Katajisto, P.1
Vaahtomeri, K.2
Ekman, N.3
-
26
-
-
38049169559
-
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
-
Bissler JJ, McCormack FX, Young LR etal. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008; 358: 140-151.
-
(2008)
N Engl J Med
, vol.358
, pp. 140-151
-
-
Bissler, J.J.1
McCormack, F.X.2
Young, L.R.3
-
27
-
-
79955510505
-
Efficacy and safety of sirolimus in lymphangioleiomyomatosis
-
McCormack FX, Inoue Y, Moss J etal. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 2011; 364: 1595-1606.
-
(2011)
N Engl J Med
, vol.364
, pp. 1595-1606
-
-
McCormack, F.X.1
Inoue, Y.2
Moss, J.3
|