FLCN Antibody

1. Two FLCN mutations have been identified in Birt-Hogg-Dube syndrome patients: One is an insertion mutation previously reported in three Asian families; while the other is the first mutation (originally found in Asian populations) that has ever been detected in a French family. PMID: 29357828
2. FLCN gene analysis revealed a heterozygous FLCN{NM_144997.5}:c.1285dupC mutation in all affected members. The clinical features of BHD syndrome are heterogeneous with wide intra-familial and interfamilial variation. It is caused by mutations of the FLCN gene. PMID: 28775225
3. The molecular insight into the folliculin dynamics in the presence and absence of mutations may provide valuable information regarding the interactions essential for normal functioning of cellular process and the molecular basis of Birt-Hogg-Dube syndrome PMID: 27484154
4. The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in Birt-Hogg-Dube syndrome and primary spontaneous pneumothorax, but also expands the spectrum of FLCN mutations. PMID: 28785590
5. In the folliculin gene, a similar genotype spectrum but different mutant loci was determined in Chinese patients with Birt-Hogg-Dube syndrome compared with European and American patients. PMID: 28558743
6. Germline mutations in the FLCN gene are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dube syndrome. PMID: 28970150
7. Seventy-six of 156 FLCN mutation carriers (120 probands and 36 sibs, 48.7%) had skin papules; however, cutaneous manifestations were so subtle that only one patient voluntarily consulted dermatologists. Japanese Asian BHD families have three FLCN mutational hotspots. PMID: 27220747
8. A nonsense mutation of FLCN was found in a spontaneous pneumothorax family. The results expand the mutational spectrum of FLCN in patients with Birt-Hogg-Dube syndrome. PMID: 27486260
9. the study describes the FLCN mutation spectrum in Danish Birt-Hogg-Dube (BHD) syndrome patients, and contributes to a better understanding of BHD syndrome and management of BHD patients. PMID: 27734835
10. We report Smith-Magenis syndrome who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region PMID: 27633572
11. For patients whose clinical features are atypical, detection of germline mutation in FLCN gene would help confirm diagnosis. The 2 mutations we reported would expand the mutation spectrum of FLCN gene associated with BHD syndrome PMID: 27258496
12. DNA sequence analyses determined that there was a two base pair deletion in exon 4 of the FLCN gene, confirming the diagnosis of BHD syndrome. PMID: 27780965
13. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas PMID: 26342594
14. FLCN irregulation in lung cysts of primary spontaneous pneumothorax is not associated with promoter methylation. PMID: 26398834
15. mTOR inhibitor, sirolimus, suppresses the tumor's growth, suggesting that mTOR inhibitors might be effective in control of FLCN-deficient RCC. PMID: 26418749
16. we show that glycogen accumulates in kidneys from mice lacking FLCN and in renal tumors from a BHD patient PMID: 26439621
17. Case Report: FLCN deletion mutation in members of Indian Birt-Hogg-Dube syndrome family. PMID: 25827758
18. This report documents the first identification of founder mutations in FLCN, as well as expands mutation spectrum of the gene PMID: 25807935
19. FLCN-related renal cell carcinomas showed overexpression of GPNMB and underexpression of FLCN, whereas sporadic tumors showed inverted patterns. PMID: 25594584
20. The FLCN-GABARAP association is modulated by the presence of either folliculin-interacting protein (FNIP)-1 or FNIP2 and further regulated by ULK1. PMID: 25126726
21. Two predominant genes, ephrin type A receptor 6 (EPHA6) and folliculin (FLCN), with mutations exclusive to African American CRCs, are by genetic and biological criteria highly likely African American CRC driver genes. PMID: 25583493
22. Findings suggest that folliculin deficient renal cell carcinoma cells are highly sensitive to irradiation due to increased autophagic cell death, unlike other types of renal cell carcinoma. PMID: 24434776
23. A rare mutation of the folliculin gene was detected in the patient and family members with Birt-Hogg-Dube syndrome with pulmonary cysts or pneumothorax, but no skin or renal lesions. PMID: 24346394
24. Birt-Hogg-Dube (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. PMID: 24996715
25. loss of FLCN constitutively activates AMPK, resulting in PGC-1alpha-mediated mitochondrial biogenesis and increased ROS production PMID: 24762438
26. FLCN germ-line mutation is associated with spontaneous pneumothorax and renal cancer PMID: 23264078
27. Results suggest that Birt-Hogg-Dube (BHD)syndrome-causing FLCN mutants may retain partial functionality. Thus, several BHD symptoms may be due to abnormal levels of FLCN rather than its complete loss. PMID: 23784378
28. Tumor suppression function of FLCN may be linked to its impact on the cell cycle. PMID: 23874397
29. FLCN localizes to motile and non-motile cilia, centrosomes and the mitotic spindle. Alteration of FLCN levels can cause changes to the onset of ciliogenesis. In three-dimensional culture, abnormal expression of FLCN disrupts polarized growth of kidney cells and deregulates canonical Wnt signalling. Findings suggest that BHD is a ciliopathy, with symptoms at least partly due to abnormal ciliogenesis. PMID: 23784378
30. Birt-Hogg-Dube syndrome in a patient with melanoma and a novel mutation in the FCLN gene. PMID: 23414156
31. FLCN functions as a tumor suppressor by negatively regulating rRNA synthesis. PMID: 23077212
32. Germline mutation analysis of the FCLN gene in mother and daughter cases with renal cell neoplasms showed a deletion of 18 bp in exon 5(c.332_349del/p.H111_Q116del), predicting an alteration of the amino acid sequence of "HPSHPQ" replaced by a single amino acid, "L". PMID: 22211584
33. Findings suggest that aspects of folliculin tumour suppressor function are linked to interaction with p0071 and the regulation of RhoA signalling. PMID: 22965878
34. These data support a model in which dysregulation of the FLCN-p0071 interaction leads to alterations in cell adhesion, cell polarity, and RhoA signaling. PMID: 23139756
35. These findings identify novel pathways and targets linked to folliculin tumour suppressor activity. PMID: 23155228
36. FLCN deficiency and subsequent increased PPARGC1A expression result in increased mitochondrial function and oxidative metabolism as the source of cellular energy, which may drive hyperplastic transformation. PMID: 23150719
37. Study reports a novel in-frame deletion mutation p.F143del (c.427_429delTTC) in exon 6 of FLCN gene in a Korean proband and her two sisters. PMID: 22446046
38. confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16% for FLCN mutation carriers PMID: 22146830
39. FLCN mutations throughout the coding sequence, and suggest that multiple protein domains contribute to folliculin stability and tumor suppressor activity. PMID: 21538689
40. Birt-Hogg-Dube (BHD) protein-deficient cells exhibited defects in cell-intrinsic apoptosis that correlated with reduced expression of the BH3-only protein Bim, which was similarly observed in all human and mouse BHD-related tumors examined. PMID: 21258407
41. Data show that FLCN mutations were found in 9 of 19 (47%) families. PMID: 20618353
42. This report confirms that large intragenic FLCN deletions can cause Birt-Hogg-Dube syndrome and documents the first large intragenic FLCN duplication in a Birt-Hogg-Dube syndrome patient PMID: 21412933
43. Genetic testing for Birt-Hogg-Dube should be considered in the treatment algorithm of patients with bilateral renal masses and known oncocytoma PMID: 21496834
44. FLCN tumor suppressor gene inactivation induces TFE3 transcriptional activity by increasing its nuclear localization PMID: 21209915
45. plays role in tumor suppression and inhibition on rapamycin pathway PMID: 21079084
46. Data show that germline FLCN mutations were not detected in 50 patients with familial non-syndromic colorectal cancer. PMID: 20522427
47. An Birt-Hogg-Dube syndrome protein germline mutation was found in 23 (63.9%) of the 36 patients. A large genomic deletion was identified in two of the remaining 13 patients. PMID: 20413710
48. We report cases involving a new mutation in three unrelated families of Birt-Hogg-Dube syndrome. PMID: 20227563
49. Mutations lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome PMID: 12204536
50. Clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects PMID: 12471204

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HGNC: 27310

OMIM: 135150

KEGG: hsa:201163

STRING: 9606.ENSP00000285071

UniGene: Hs.31652