Cargando…

A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours

Individuals with Birt–Hogg–Dubé syndrome (BHDS) may develop fibrofolliculomas, pneumothorax and/or renal cell carcinoma (RCC). Currently, all patients with pathogenic FLCN variants are recommended to have renal surveillance. It has however been suggested that some FLCN variants only cause pneumothor...

Descripción completa

Detalles Bibliográficos
Autores principales:	Matsumoto, Kenki, Lim, Derek, Pharoah, Paul D., Maher, Eamonn R., Marciniak, Stefan J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560836/ https://www.ncbi.nlm.nih.gov/pubmed/34267338 http://dx.doi.org/10.1038/s41431-021-00921-x

Ejemplares similares

A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax
por: Genc Yavuz, Burcu, et al.
Publicado: (2019)

Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
por: Houweling, A C, et al.
Publicado: (2011)

Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome
por: Wang, Yue, et al.
Publicado: (2023)

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants
por: Liu, Keqiang, et al.
Publicado: (2019)

Meta-analysis of the association between emphysematous change on thoracic computerized tomography scan and recurrent pneumothorax
por: Girish, M, et al.
Publicado: (2021)

Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-β signaling
por: Hong, Seung-Beom, et al.
Publicado: (2010)

A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient
por: Bandini, Erika, et al.
Publicado: (2023)

Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression
por: Wu, Mingsong, et al.
Publicado: (2015)

A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report
por: Xiao, Hua, et al.
Publicado: (2023)

SAT179 Germline And Somatic Inactivating FLCN Variants In Parathyroid Cancer and Atypical Parathyroid Tumors
por: Jha, Smita, et al.
Publicado: (2023)

Blood and lymphatic systems are segregated by the FLCN tumor suppressor
por: Tai-Nagara, Ikue, et al.
Publicado: (2020)

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
por: van de Beek, Irma, et al.
Publicado: (2022)

Combining clinical, radiological and genetic approaches to pneumothorax management
por: Grimes, Hannah L, et al.
Publicado: (2022)

Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia
por: Chen, Jindong, et al.
Publicado: (2008)

Catamenial pneumothorax: Not only VATS diagnosis
por: Quercia, Rosatea, et al.
Publicado: (2023)

FLCN regulates transferrin receptor 1 transport and iron homeostasis
por: Wang, Xiaojuan, et al.
Publicado: (2021)

Correction: Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia
por: Chen, Jindong, et al.
Publicado: (2008)

Correction: Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia
por: Chen, Jindong, et al.
Publicado: (2008)

Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
por: Johannesma, Paul C., et al.
Publicado: (2015)

Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer
por: Bartram, Malte P., et al.
Publicado: (2017)

FLCN Maintains the Leucine Level in Lysosome to Stimulate mTORC1
por: Wu, Xiaochun, et al.
Publicado: (2016)

FLCN: A new regulator of AMPK-dependent Warburg metabolic reprogramming
por: Gingras, Marie-Claude, et al.
Publicado: (2014)

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management
por: Maher, Eamonn R.
Publicado: (2018)

Birt–Hogg–Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas
por: Näf, Ernst, et al.
Publicado: (2015)

FLCN Regulates HIF2α Nuclear Import and Proliferation of Clear Cell Renal Cell Carcinoma
por: Zhao, Xuyang, et al.
Publicado: (2020)

FLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen Stores
por: Possik, Elite, et al.
Publicado: (2015)

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene
por: Hou, Xiaocan, et al.
Publicado: (2018)

Loss of hepatic Flcn protects against fibrosis and inflammation by activating autophagy pathways
por: Paquette, Mathieu, et al.
Publicado: (2021)

Role of FLCN Phosphorylation in Insulin‐Mediated mTORC1 Activation and Tumorigenesis
por: Wang, Guoyan, et al.
Publicado: (2023)

Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines
por: Glykofridis, Iris E., et al.
Publicado: (2022)

Case Report of Birt–Hogg–Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer
por: Dong, Li, et al.
Publicado: (2016)

Nutrient-induced FNIP degradation by SCF(β-TRCP) regulates FLCN complex localization and promotes renal cancer progression
por: Nagashima, Katsuyuki, et al.
Publicado: (2016)

The tumor suppressor FLCN mediates an alternate mTOR pathway to regulate browning of adipose tissue
por: Wada, Shogo, et al.
Publicado: (2016)

AMPK promotes induction of the tumor suppressor FLCN through activation of TFEB independently of mTOR
por: Collodet, Caterina, et al.
Publicado: (2019)

Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN
por: Ray, Anindita, et al.
Publicado: (2022)

A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review
por: Cai, Minghui, et al.
Publicado: (2021)

Concurrent Germline and Somatic Mutations in FLCN and Preliminary Exploration of Its Function: A Case Report
por: Wang, Tao, et al.
Publicado: (2022)

Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance
por: Parisien-La Salle, Stefanie, et al.
Publicado: (2022)

Muscle‐specific functional deficits and lifelong fibrosis in response to paediatric radiotherapy and tumour elimination
por: Kallenbach, Jacob G., et al.
Publicado: (2022)

Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells
por: Glykofridis, Iris E, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_t0ptgftt1v7sn2jp4pa9lnuh6g