Gene: MPRIP

Alternate names for this Gene: M-RIP|MRIP|RHOIP3|RIP3|p116Rip

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: myosin phosphatase Rho interacting protein

Type of Gene: protein-coding

Gene: FLCN

Alternate names for this Gene: BHD|DENND8B|FLCL

Gene Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: folliculin

Type of Gene: protein-coding

rs1064793128 in MPRIP;FLCN gene and Multiple fibrofolliculomas PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 28009417 2017 Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report.

PMID 27220747 2016 Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.

PMID 26943385 2015 Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.

PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 26334087 2015 Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

PMID 18403135 2008 Identification and characterization of a novel folliculin-interacting protein FNIP2.

PMID 18663353 2008 Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein.

PMID 20413710 2010 Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

PMID 17028174 2006 Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.

PMID 22977732 2012 Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer.

PMID 19802896 2010 A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

PMID 24994497 2014 Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.

PMID 28499369 2017 Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.

PMID 24190151 2013 Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome.

PMID 27734835 2017 Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

PMID 25519458 2014 Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

PMID 25827758 2015 Genetic analysis of familial spontaneous pneumothorax in an Indian family.

PMID 20522427 2010 Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

PMID 17496196 2007 Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.

PMID 12471204 2002 Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

PMID 12204536 2002 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.

PMID 27642565 2016 Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.

rs1064793128 in MPRIP;FLCN gene and Neoplastic Syndromes, Hereditary PMID 26943385 2015 Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.

PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 27220747 2016 Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.

PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

PMID 24994497 2014 Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.

PMID 11100034 2000 Parotid oncocytoma in the Birt-Hogg-Dubé syndrome.

PMID 19802896 2010 A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

PMID 24190151 2013 Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome.

PMID 20413710 2010 Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

PMID 28499369 2017 Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.

PMID 12204536 2002 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.

PMID 12471204 2002 Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

PMID 21401403 2011 Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome.

PMID 17124507 2007 Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.

PMID 27734835 2017 Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 26659639 2016 Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

PMID 23741947 2013 When the chest is clueless, look downstairs.

PMID 28869776 2018 Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?

PMID 26028485 2015 Possible familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: A possible link between these two disease entities.

PMID 26387484 2015 Perifollicular fibromas associated with Birt-Hogg-Dubé syndrome.

PMID 25827758 2015 Genetic analysis of familial spontaneous pneumothorax in an Indian family.

PMID 22148048 2011 Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis.

PMID 26581862 2019 Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.

PMID 21538689 2011 Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

rs375082054 in MPRIP;FLCN gene and PNEUMOTHORAX, PRIMARY SPONTANEOUS PMID 18505456 2008 Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

PMID 15657874 2005 A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

PMID 18579543 2008 Novel mutations in the folliculin gene associated with spontaneous pneumothorax.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 12204536 2002 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.