Literature DB >> 24072552

Birt-Hogg-Dubé syndrome.

Maria F Czyzyk-Krzeska1, Francis X McCormack.   

Abstract

Entities:  

Mesh：

Year:  2013        PMID： 24072552      PMCID： PMC4047644          DOI： 10.1007/s10689-013-9679-y

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


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  7 in total

1.  High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

Authors:  Cathy D Vocke; Youfeng Yang; Christian P Pavlovich; Laura S Schmidt; Michael L Nickerson; Carlos A Torres-Cabala; Maria J Merino; McClellan M Walther; Berton Zbar; W Marston Linehan
Journal:  J Natl Cancer Inst       Date:  2005-06-15       Impact factor: 13.506

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

Authors:  Laura S Schmidt; Michael L Nickerson; Michelle B Warren; Gladys M Glenn; Jorge R Toro; Maria J Merino; Maria L Turner; Peter L Choyke; Nirmala Sharma; James Peterson; Patrick Morrison; Eamonn R Maher; McClellan M Walther; Berton Zbar; W Marston Linehan
Journal:  Am J Hum Genet       Date:  2005-04-25       Impact factor: 11.025

3.  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.

Authors:  Michael L Nickerson; Michelle B Warren; Jorge R Toro; Vera Matrosova; Gladys Glenn; Maria L Turner; Paul Duray; Maria Merino; Peter Choyke; Christian P Pavlovich; Nirmala Sharma; McClellan Walther; David Munroe; Rob Hill; Eamonn Maher; Cheryl Greenberg; Michael I Lerman; W Marston Linehan; Berton Zbar; Laura S Schmidt
Journal:  Cancer Cell       Date:  2002-08       Impact factor: 31.743

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

Authors:  Michael S Nahorski; Laurence Seabra; Ania Straatman-Iwanowska; Aileen Wingenfeld; Anne Reiman; Xiaohong Lu; Jeff A Klomp; Bin T Teh; Mechthild Hatzfeld; Paul Gissen; Eamonn R Maher
Journal:  Hum Mol Genet       Date:  2012-09-10       Impact factor: 6.150

5.  Birt-Hogg-Dubé: beyond the clinical manifestations.

Authors:  Lindsay A Middelton
Journal:  Fam Cancer       Date:  2013-03       Impact factor: 2.375

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

Authors:  Ravi K Nookala; Lars Langemeyer; Angela Pacitto; Bernardo Ochoa-Montaño; Jane C Donaldson; Beata K Blaszczyk; Dimitri Y Chirgadze; Francis A Barr; J Fernando Bazan; Tom L Blundell
Journal:  Open Biol       Date:  2012-08       Impact factor: 6.411

7.  Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion.

Authors:  Doug A Medvetz; Damir Khabibullin; Venkatesh Hariharan; Pat P Ongusaha; Elena A Goncharova; Tanja Schlechter; Thomas N Darling; Ilse Hofmann; Vera P Krymskaya; James K Liao; Hayden Huang; Elizabeth P Henske
Journal:  PLoS One       Date:  2012-11-06       Impact factor: 3.240
  7 in total
  3 in total

1.  Birt-Hogg-Dubé Syndrome - report of two cases with two new mutations.

Authors:  Margarida Rato; Ana Filipe Monteiro; Joana Parente; João Aranha; Ermelindo Tavares
Journal:  J Dermatol Case Rep       Date:  2017-03-31

2.  The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges.

Authors:  Patrick R Benusiglio
Journal:  Intractable Rare Dis Res       Date:  2015-08

3.  Appendiceal diverticulosis in a patient with family history of Birt-Hogg-Dubé syndrome--a case report.

Authors:  Alan Alexander; Kyle Hunter; Stephen Passerini; Roopa Bhat; Ambarish P Bhat
Journal:  Radiol Case Rep       Date:  2020-06-24
  3 in total

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