The patient is still doing well after 20months of follow-up (cut-off date July 2022). Conclusion:This is a case of BHD syndrome presented with bilateral renal tumor, renal cysts, and multiple lung cysts, and confirmed by gene testing. Patients with any combination of one or more of the ...
Gene ID (NCBI) 201163 RRID AB_2103285 Conjugate Unconjugated Form Liquid Purification Method Antigen affinity purification UNIPROT ID Q8NFG4 Storage Buffer PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Storage Conditions Store at -20°C. Stable for one year after shipment. Aliquoting is...
Gene ID (NCBI)201163 RRIDAB_2103285 ConjugateUnconjugated FormLiquid Purification MethodAntigen affinity purification Storage BufferPBS with 0.02% sodium azide and 50% glycerol pH 7.3. Storage ConditionsStore at -20°C. Stable for one year after shipment.Aliquoting is unnecessary for -20oC storage.20...
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 t
Birt-Hogg-Dub茅 syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified inFLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations ...
Here we present a case of an adult-onset adrenal cortical carcinoma in a 50-year-old female, found to harbor a germline likely pathogenic variant in the FLCN gene, denoted as c.694C>T (p.Gln232Ter). Genetic testing on the tumor revealed the same FLCN variant at an allele fraction of...
Compositions, systems, kits, and methods are described herein for the modulation, and in particular the reduction or inhibition, of expression of the FLCN gene or the activity of FLCN protein in a cell, animal, or human subject. Compositions, systems, and methods disclosed herein can be used ...
Compositions, systems, kits, and methods are described herein for the modulation, and in particular the reduction or inhibition, of expression of the FLCN gene or the activity of FLCN protein in a cell, animal, or human subject. Compositions, systems, and methods disclosed herein can be used ...
Chinese patients with BHDS also have a different mutation spectrum from other races. Non-truncating mutations in FLCN did not disrupt mRNA splicing pattern, in turn supporting the hypothesis that these mutations impair folliculin function by disrupting the stability of the FLCN gene product....