Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome - Wikidata - awgldk - TriplyDB

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome

http://www.wikidata.org/entity/Q33938826

about

Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling 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 Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling Birt-Hogg-Dube syndrome: clinicopathological features of the lung Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports Genetic and Chromosomal Aberrations and Their Clinical Significance in Renal Neoplasms Diagnosis and management of BHD-associated kidney cancer Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription Folliculin mutations are not associated with severe COPD.The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation.Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein Molecular diagnosis and therapy of kidney cancer.The genetic basis of kidney cancer: a metabolic disease Non-clear cell renal cancer: disease-based management and opportunities for targeted therapeutic approaches.Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature 10 rare tumors that warrant a genetics referral.Targeted therapies for non-clear renal cell carcinoma.Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells.Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dubé tumour suppressor gene (FLCN).Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations Folliculin contributes to VHL tumor suppressing activity in renal cancer through regulation of autophagy.A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies.The impact of germline BHD mutation on histological concordance and clinical treatment of patients with bilateral renal masses and known unilateral oncocytoma Impact of genetics on the diagnosis and treatment of renal cancer.Pulmonary manifestations of Birt-Hogg-Dubé syndrome.Advances in the genetics of familial renal cancer The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families Familial renal cancer: molecular genetics and surgical management.

P2860

Q24298712-DC6A54C1-EA55-4368-B421-FF1B047598F6 Q24306277-91A2BE19-EE0E-4BBB-AD77-E351DFCBB77B Q24318963-E221151C-7F68-4CD8-9E07-5C8AAA5916A5 Q24324012-8A1252C9-B3CE-49E6-A92D-354A0EE93A9D Q24329165-EEE754C4-6698-4A04-BE50-A620823B8DE7 Q24606257-12B5D208-F789-4A79-84FC-0F19CF42FE3D Q24623891-4FB6B2D7-5C24-4414-A122-351D8C390886 Q24654382-5C79D6C6-1E70-46E1-9754-55A559DC9AC4 Q26785930-4AC90749-7673-4898-AB63-2BF74DB0C1E5 Q26822677-CDFD1826-E3EB-491F-80A0-9BE486D54CD8 Q27318467-1EAC29B6-7DAE-4D77-8760-DB5EE8FA2811 Q28513499-E15A02F8-9FB4-416C-AB3C-63917742E998 Q28587662-22043EEE-9477-4293-879C-6F5DB87B3BA5 Q28587887-54698714-259E-4047-8DA8-C3CA5FF3AABD Q28590041-75EF7357-D70E-453F-8E57-D3DA2D97E4B0 Q28595056-7A584740-52FA-4062-B538-94729CFCD1E1 Q33396563-8D296D82-B7BC-4539-A7F1-66B7C0919FC9 Q33685916-5A468280-8B03-444E-86D1-ABEBD43E1BC7 Q33861388-096C3595-69F8-4A19-BE01-800AA573DE67 Q34065685-7D59BBF9-3204-4A4B-AF13-8AB7050D5B5C Q34087148-1C9C6077-A258-4E01-B536-E67D5738FB41 Q34194075-3B393584-561D-47BE-B462-3D41AF66633C Q34308406-35F617F8-51F7-44F6-BDEB-D822579FA6E2 Q34325954-304501F7-50D4-4F8A-ABD6-E3EAAAD2CBEE Q34412479-27B39427-8E4E-4410-8056-69E36985E6DE Q34447213-24432F00-0C79-448E-BC31-ACE91366FAD6 Q34541274-BDD0E71D-E87E-4442-B2F5-0E3552613C47 Q34582386-14363B53-E730-4512-9A12-703413016E49 Q34589207-943919FC-814B-452A-9BBE-B0FC3EB53C42 Q34785861-A2B379A9-02C0-4956-98F7-A8EC1458B89B Q34846527-AE146E7E-2962-43B4-B34F-9EC33B99D6D5 Q34905447-4177DEED-A06F-4B9B-8C48-FF86E0D6C6F2 Q34913413-4258C5C0-5316-4795-9C1D-56917B06598F Q35189567-03FB8718-A1FC-4B6E-A07C-0BE409B5947F Q35189579-156C9EAC-523B-4A0E-AE75-53717C82AF61 Q35536837-4346D05C-E76D-4E7E-A394-65EDB9063383 Q35584092-EE906682-6328-48AD-A4CD-AA3EB9160658 Q35602650-563F9200-508C-4944-A263-839902F09C8E Q35653949-ABACE6CC-457C-4541-8A56-5385BBE0DB84 Q35687676-64EBFCEE-BD57-4925-B835-20A6DCD658C3

P2860

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome

http://www.wikidata.org/entity/Q33938826

description

2005 nî lūn-bûn

@nan

2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2005年の論文

@ja

2005年論文

@yue

2005年論文

@zh-hant

2005年論文

@zh-hk

2005年論文

@zh-mo

2005年論文

@zh-tw

2005年论文

@wuu

name

Germline BHD-mutation spectrum ...... s with Birt-Hogg-Dubé syndrome

@ast

Germline BHD-mutation spectrum ...... s with Birt-Hogg-Dubé syndrome

@en

type

label

Germline BHD-mutation spectrum ...... s with Birt-Hogg-Dubé syndrome

@ast

Germline BHD-mutation spectrum ...... s with Birt-Hogg-Dubé syndrome

@en

prefLabel

Germline BHD-mutation spectrum ...... s with Birt-Hogg-Dubé syndrome

@ast

Germline BHD-mutation spectrum ...... s with Birt-Hogg-Dubé syndrome

@en

P1433

Q33938826-DEB9E23C-9EF9-4BA5-A2A7-F4880F408AC4

P1476

Q33938826-44CE61CB-2A57-4E14-A1B6-A24E7E2AC92E

P2093

Q33938826-08646436-FB8E-47BE-A2FF-71DFED753F0D

Q33938826-0B54B590-9D95-4F75-82CC-3FBA9E0CEC15

Q33938826-39FA2908-0091-474D-800D-18B74AEA62C2

Q33938826-425DCDF8-AA9A-4A35-B662-6085570E49AD

Q33938826-46503894-3028-40B5-A5BF-CFA54B75AE20

Q33938826-4877ACB8-1A62-4EBB-B024-749942C4A5C1

Q33938826-4DE9AB6F-E728-4674-B232-8AE5EAB09481

Q33938826-5F09DFF4-9A20-4555-8653-D6801BB1D0A9

Q33938826-603CB436-CBDF-4051-85E3-D749AD9FD27B

Q33938826-79B778F4-1CA8-4867-B1AF-924F701282D9

P2860

Q33938826-0082A580-9C26-4AB3-80AA-CBD92712D01E

Q33938826-0820F023-39CA-4057-AE0C-2DD2F779BD2A

Q33938826-102B814E-BE13-4855-A410-BF3CA0A50CCA

Q33938826-129C2B4D-862A-4649-AC01-B8DE67F9D39B

Q33938826-18202C48-A933-47D6-80C2-F5740900306F

Q33938826-242B1379-97E9-4FC8-8F50-5447A6921147

Q33938826-30CD58CA-EFEF-4B5B-A4AE-BAF32AB8362B

Q33938826-39395EE5-0126-480E-99E9-7880FCE0E3AC

Q33938826-57E0BAF8-B237-4CE4-ACD4-D3EB9F7EA8C2

Q33938826-6A4EAF30-236C-4570-BB1D-C847C99B214F

P304

Q33938826-E43B3252-C542-4B52-A719-977B11788A32

P31

Q33938826-DC2A6DD1-50ED-4F06-BEC7-BD1BF8334AA7

P356

Q33938826-B499207C-26C2-4FCC-B9AD-40A582375074

P407

Q33938826-42C2233A-66C4-49CD-AA85-7A4ADD4D63EF

P433

Q33938826-9D758A47-9779-4414-ACF5-3773CA97EBE2

P478

Q33938826-D9AC7B8D-E04E-42D7-A490-A8F7AD7BD4F7

P577

Q33938826-B6DC62AF-0C89-44F6-AF66-6AD018730A93

P5875

Q33938826-E0D54F4C-285F-40B6-816D-71A1438D3B50

P698

Q33938826-982EC8F1-5C7F-4BEA-8CF1-C0EB9480F086

P932

Q33938826-80FB6D4C-2633-47F0-9E9A-411349527122

P356

P1433

American Journal of Human Genetics

P1476

Germline BHD-mutation spectrum ...... s with Birt-Hogg-Dubé syndrome

@en

P2093

Berton Zbar

http://www.w3.org/2001/XMLSchema#string

Eamonn R Maher

http://www.w3.org/2001/XMLSchema#string

Gladys M Glenn

http://www.w3.org/2001/XMLSchema#string

James Peterson

http://www.w3.org/2001/XMLSchema#string

Jorge R Toro

http://www.w3.org/2001/XMLSchema#string

Laura S Schmidt

http://www.w3.org/2001/XMLSchema#string

Maria J Merino

http://www.w3.org/2001/XMLSchema#string

Maria L Turner

http://www.w3.org/2001/XMLSchema#string

McClellan M Walther

http://www.w3.org/2001/XMLSchema#string

Michael L Nickerson

http://www.w3.org/2001/XMLSchema#string

P2860

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 syndrome

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday.

Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs

A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer

Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome.

Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome.

P304

1023-1033

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1086/430842

http://www.w3.org/2001/XMLSchema#string

P407

P433

6

http://www.w3.org/2001/XMLSchema#string

P478

76

http://www.w3.org/2001/XMLSchema#string

P577

2005-04-25T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

7886115

http://www.w3.org/2001/XMLSchema#string

P698

15852235

http://www.w3.org/2001/XMLSchema#string

P932

1196440

http://www.w3.org/2001/XMLSchema#string