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https://www.readbyqxmd.com/read/29223882/recurrent-renal-cancer-in-birt-hogg-dub%C3%A3-syndrome-a-case-report
#1
Hammad Ather, Nida Zahid
INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disease. It is caused by constitutional mutations in the FLCN gene. Since BHDS is a rare syndrome therefore it is unknown to many physicians. However, it is important to identify this rare syndrome at early stages because incidence of renal cancer in BHD patients is very high and its detection at early stages can prevent its metastasis. Hence, we want to present a case of BHDS and draw the attention of the treating physician to this rare inherited disorder and discuss its appropriate diagnosis and management...
November 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29157599/skin-lesions-of-birt-hogg-dub%C3%A3-syndrome-clinical-and-histopathological-findings-in-31-japanese-patients-who-presented-with-pneumothorax-and-or-multiple-lung-cysts
#2
Chikako Iwabuchi, Hiroki Ebana, Akira Ishiko, Azusa Negishi, Teruaki Mizobuchi, Toshio Kumasaka, Masatoshi Kurihara, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) (OMIM #135150) is an autosomal dominant disease, characterized by fibrofolliculomas (FFs) of the skin, pulmonary cysts with/without pneumothorax, and renal tumors. The prevalence of skin manifestations reported for Japanese BHDS patients is lower (<30%) compared with that of Western countries (75∼90%), which appear to be underestimated. OBJECTIVE: To precisely examine the prevalence of skin lesions with dermoscopy and histopathology with reference to genetic analyses...
November 2, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29147010/epithelial-folliculin-is-involved-in-airway-inflammation-in-workers-exposed-to-toluene-diisocyanate
#3
Duy L Pham, Tu Hk Trinh, Ga-Young Ban, Seung-Hyun Kim, Hae-Sim Park
Toluene diisocyanate (TDI) exposure can directly activate and damage airway epithelium. Folliculin (FLCN) is a protein expressed by human airway epithelial cells (HAECs) to maintain airway epithelial integrity and survival. This study investigated the involvement of FLCN in the pathogenesis of TDI-induced occupational asthma (OA). Enzyme-linked immunosorbent assay was used to measure serum levels of FLCN in TDI-exposed subjects (93 TDI-OA patients and 119 asymptomatic exposed controls (AEC)), 200 non-occupational asthma (NOA) patients and 71 unexposed healthy normal controls (NCs)...
November 17, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29124032/birt-hogg-dub%C3%A3-syndrome-manifesting-as-spontaneous-pneumothorax-a-novel-mutation-of-the-folliculin-gene
#4
Kyung Soo Kim, Hang Jun Choi, Woori Jang, Hyojin Chae, Myungshin Kim, Seok Whan Moon
Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
October 2017: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29121788/fluorescence-image-guided-neurosurgery
#5
Sadao Kaneko, Muftah S Eljamel
Surgery plays an important role in the management of high-grade gliomas (HGG) and imparts significant tumor-free and overall survival advantages. However HGG margins are often invisible, making their gross total resection (GTR) a difficult task. Hence intraoperative technology such as intraoperative fluorescence was a revolutionary discovery. A critical literature review revealed fluorescence improved the GTR of HGG from 36% using standard surgery to 74.5 and 84.4% using aminolevulinic acid (ALA) or fluorescein (FLCN), respectively...
November 2017: Future Oncology
https://www.readbyqxmd.com/read/29025585/genetic-gastric-cancer-susceptibility-in-the-international-clinical-cancer-genomics-community-research-network
#6
Thomas Slavin, Susan L Neuhausen, Christina Rybak, Ilana Solomon, Bita Nehoray, Kathleen Blazer, Mariana Niell-Swiller, Aaron W Adamson, Yate-Ching Yuan, Kai Yang, Sharon Sand, Danielle Castillo, Josef Herzog, Xiwei Wu, Shu Tao, Tanya Chavez, Yanghee Woo, Joseph Chao, Pamela Mora, Darling Horcasitas, Jeffrey Weitzel
Few susceptibility genes for gastric cancer have been identified. We sought to identify germline susceptibility genes from participants with gastric cancer from an international hereditary cancer research network. Adults with gastric cancer of any histology, and with a germline DNA sample (n = 51), were retrospectively selected. For those without previously identified germline mutations (n = 43), sequencing was performed for 706 candidate genes. Twenty pathogenic or likely pathogenic variants were identified among 18 participants...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29018350/folliculin-interacts-with-rab35-to-regulate-egf-induced-egfr-degradation
#7
Jianchao Zheng, Biao Duan, Shixiu Sun, Jie Cui, Jun Du, Yujie Zhang
Aims and Hypothesis: This study aims to investigate the mechanism involved in intracellular regulation of EGFR degradation induced by EGF. Methods: Phosphorylation of proteins related to EGFR signaling was examined by western blot analysis. Activation, connection between Rab35 and folliculin (FLCN) were assessed by pulldown, coimmunoprecipitation assays separately. The relationship between FLCN and cell growth was detected using gene overexpression and knock-down techniques. Results: Here, we demonstrate that interfering with FLCN, a tumor suppressor, reduces the rate of EGF-induced EGFR degradation, resulting in prolonged activation of downstream signaling...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28980860/the-roles-of-intrinsic-disorder-based-liquid-liquid-phase-transitions-in-the-dr-jekyll-mr-hyde-behavior-of-proteins-involved-in-amyotrophic-lateral-sclerosis-and-frontotemporal-lobar-degeneration
#8
Vladimir N Uversky
Pathological developments leading to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are associated with misbehavior of several key proteins, such as SOD1 (superoxide dismutase 1), TARDBP/TDP-43, FUS, C9orf72, and dipeptide repeat proteins generated as a result of the translation of the intronic hexanucleotide expansions in the C9orf72 gene, PFN1 (profilin 1), GLE1 (GLE1, RNA export mediator), PURA (purine rich element binding protein A), FLCN (folliculin), RBM45 (RNA binding motif protein 45), SS18L1/CREST, HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1), HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1), ATXN2 (ataxin 2), MAPT (microtubule associated protein tau), and TIA1 (TIA1 cytotoxic granule associated RNA binding protein)...
October 5, 2017: Autophagy
https://www.readbyqxmd.com/read/28970150/flcn-the-causative-gene-for-birt-hogg-dub%C3%A3-syndrome
#9
REVIEW
Laura S Schmidt, W Marston Linehan
Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. Although the encoded protein, folliculin (FLCN), has no sequence homology to known functional domains, x-ray crystallographic studies have shown that the C-terminus of FLCN has structural similarity to DENN (differentially expressed in normal cells and neoplasia) domain proteins that act as guanine nucleotide exchange factors (GEFs) for small Rab GTPases...
January 15, 2018: Gene
https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#10
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28891800/a-novel-heterozygous-mutation-in-the-birt-hogg-dub%C3%A3-syndrome
#11
Juan Gómez Rivas, Diego M Carrión, Sergio Alonso Y Gregorio, Mario Álvarez-Maestro, Ángel Tabernero Gómez, Jesus Cisneros Ledo
OBJETIVE: Our aim is to present a novel mutation of the Birt-Hogg-Dubé Syndrome. METHODS: We present a case report of a 70-year-old male with three solid nodulary lesions of 4, 2.6, and 3 cm each in the right kidney, and two lesions of 1.5 and 1.3 cm in the left kidney. RESULTS: Needle biopsy was performed. The pathological analysis of right kidney lesions revealed a renal tumor suggestive of chromophobe renal cell carcinoma and medullar tumor with zones that suggested oncocytosis...
September 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28851811/the-mitf-tfe-family-of-transcription-factors-master-regulators-of-organelle-signaling-metabolism-and-stress-adaptation
#12
Logan Slade, Thomas Pulinilkunnil
The microphthalmia family (MITF, TFEB, TFE3, and TFEC) of transcription factors are emerging global regulators of cancer cell survival and energy metabolism, both through the promotion of lysosomal genes as well as newly characterized targets such as oxidative metabolism and the oxidative stress response. Additionally, MiT/TFE factors can regulate lysosomal signaling which includes the mTORC1 and Wnt/β-Catenin pathways, which are both substantial contributors to oncogenic signaling. This review describes recent discoveries in MiT/TFE research and how they impact multiple cancer subtypes...
August 29, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28839995/clinical-and-genetic-study-of-a-large-chinese-family-presented-with-familial-spontaneous-pneumothorax
#13
Huajie Xing, Yanguo Liu, Guanchao Jiang, Xiao Li, Yanyan Hou, Fan Yang, Jun Wang
BACKGROUND: Familial spontaneous pneumothorax (FSP) is an inherited disease, and Birt-Hogg-Dubé (BHD) syndrome is its leading cause. BHD syndrome is an autosomal dominant disorder characterized by pulmonary cysts, spontaneous pneumothorax, renal cancer, and skin fibrofolliculomas. It is caused by germline mutations in the FLCN gene. Thus far a variety of mutations have been reported; however, the unique characteristics of BHD syndrome-related FSP are still unclear. METHOD: We reviewed the family history of a large Chinese family that presented with FSP...
July 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28805452/birt-hogg-dube-syndrome-with-a-novel-mutation-in-the-flcn-gene
#14
Gulsum Kayhan, Nilgun Yılmaz Demirci, Haluk Turktas, Mehmet Ali Ergun
BACKGROUND: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant disease characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax; its cause is a heterozygous mutation in the FLCN gene. Colorectal polyps and carcinoma have also been reported in BHDS. FLCN mutations can be detected in patients with isolated primary spontaneous pneumothorax (PSP), so PSP may present as part of BHDS. The aim of this report is to enhance awareness that patients presenting with spontaneous PSP should be evaluated for FLCN mutations...
October 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28695430/birt-hogg-dub%C3%A3-syndrome-a-review-of-dermatological-manifestations-and-other-symptoms
#15
REVIEW
Yun Tong, Jeremy A Schneider, Alvin B Coda, Tissa R Hata, Philip R Cohen
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. The skin lesions associated with this condition include fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons. Extracutaneous features of the syndrome typically include the lung (spontaneous pneumothorax and cysts) and the kidney (neoplasms)...
July 10, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28656962/negative-regulation-of-egfr-signalling-by-the-human-folliculin-tumour-suppressor-protein
#16
Laura A Laviolette, Julien Mermoud, Isabel A Calvo, Nicholas Olson, Myriam Boukhali, Ortrud K Steinlein, Elisabeth Roider, Elke C Sattler, Dachuan Huang, Bin Tean Teh, Mo Motamedi, Wilhelm Haas, Othon Iliopoulos
Germline mutations in the Folliculin (FLCN) tumour suppressor gene result in fibrofolliculomas, lung cysts and renal cancers, but the precise mechanisms of tumour suppression by FLCN remain elusive. Here we identify Rab7A, a small GTPase important for endocytic trafficking, as a novel FLCN interacting protein and demonstrate that FLCN acts as a Rab7A GTPase-activating protein. FLCN(-/-) cells display slower trafficking of epidermal growth factor receptors (EGFR) from early to late endosomes and enhanced activation of EGFR signalling upon ligand stimulation...
June 28, 2017: Nature Communications
https://www.readbyqxmd.com/read/28623476/early-onset-renal-cell-carcinoma-in-an-adolescent-girl-with-germline-flcn-exon-5-deletion
#17
Meike Schneider, Katja Dinkelborg, Xiuli Xiao, Gayun Chan-Smutko, Kathleen Hruska, Dongli Huang, Pallavi Sagar, Mukesh Harisinghani, Othon Iliopoulos
Birt-Hogg-Dube (BHD) disease is an autosomal dominant cancer syndrome characterized by benign skin tumors, renal cancer and spontaneous pneumothorax and is caused by mutations in the Folliculin (FLCN) gene. Benign skin tumors and pneumothorax occur in the majority of patients affected by BHD syndrome, but only 30-45% of them develop renal cell carcinoma (RCC) with a median age of diagnosis at 48. The earliest onset of RCC in a BHD patient has been reported at age 20. Here we report a case of a 14 year-old patient with germline FLCN mutation leading to an early-onset bulky RCC that could not be classified strictly according to existing histological types...
June 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28558743/clinical-and-genetic-characteristics-of-chinese-patients-with-birt-hogg-dub%C3%A3-syndrome
#18
Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations. Our study aims to investigate the genotype spectrum in a group of Chinese patients with BHD...
May 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28539984/birt-hogg-dub%C3%A3-syndrome-report-of-two-cases-with-two-new-mutations
#19
Margarida Rato, Ana Filipe Monteiro, Joana Parente, João Aranha, Ermelindo Tavares
INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by cutaneous fibrofolliculomas and/or trichodiscomas, lung cysts, spontaneous pneumothorax and renal tumors. However, its clinical expression is highly variable. This syndrome is caused by germline mutations in the folliculin gene (FLCN) on chromosome 17p11.2. MAIN OBSERVATIONS: Two men, 60 and 39-year-old, presented with a several year history of asymptomatic whitish papules scattered over the face and neck...
March 31, 2017: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28499369/characterization-of-a-splice-site-mutation-in-the-tumor-suppressor-gene-flcn-associated-with-renal-cancer
#20
Malte P Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B Beck, Roman-Ulrich Müller
BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. METHODS: Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma...
May 12, 2017: BMC Medical Genetics
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