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BHD Research – Your Resource for Birt-Hogg-Dubé SyndromeYour Resource for Birt-Hogg-Dubé Syndrome
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BHD Research – Your Resource for Birt-Hogg-Dubé Syndrome | bhdresearch.scienceblog.com Reviews
https://bhdresearch.scienceblog.com
Your Resource for Birt-Hogg-Dubé Syndrome
bhdresearch.scienceblog.com
November | 2014 | BHD Research
https://bhdresearch.scienceblog.com/date/2014/11
Your Resource for Birt-Hogg-Dubé Syndrome. Skip to primary content. Skip to secondary content. Monthly Archives: November 2014. The natural history of angiomyolipoma in cases of sporadic LAM. November 28, 2014. Is a cystic lung disease that predominantly affects women. Roughly 90% of cases are sporadic and are caused by somatic mutation of the. Gene, but some patients develop LAM as part of the syndrome Tuberous Sclerosis Complex ( TSC. Which is caused by germline mutations either. November 21, 2014.
December | 2014 | BHD Research
https://bhdresearch.scienceblog.com/date/2014/12
Your Resource for Birt-Hogg-Dubé Syndrome. Skip to primary content. Skip to secondary content. Monthly Archives: December 2014. BHD Research Blog: 2014 Annual Review. December 26, 2014. With the New Year upon us, we thought we would use this week’s blog to review the studies we’ve particularly enjoyed writing about, and to revisit emerging themes. During the summer-autumn period, there were a number of interesting studies that shed light on the molecular function of FLCN. Firstly, Goncharova. Showed that...
Recent developments in treatments for kidney cancer | BHD Research
https://bhdresearch.scienceblog.com/672/recent-developments-in-treatments-for-kidney-cancer
Your Resource for Birt-Hogg-Dubé Syndrome. Skip to primary content. Recent developments in treatments for kidney cancer. March 20, 2015. There are 338,000 new cases of kidney cancer per year worldwide, and the incidence has increased in recent years ( Ferley. Although the majority of Renal Cell Carcinoma (RCC) cases are sporadic and affect those over 50 years old, 2-3% of cases are caused by inherited conditions such as BHD. And are associated with an earlier onset ( Randall. And derivatives, reduce mTOR...
Intragenic deletions in folliculin identified and mapped | BHD Research
https://bhdresearch.scienceblog.com/678/intragenic-deletions-in-folliculin-identified-and-mapped
Your Resource for Birt-Hogg-Dubé Syndrome. Skip to primary content. Intragenic deletions in folliculin identified and mapped. April 10, 2015. The phenotypes associated with BHD. Patients suspected of having BHD undergo genetic testing via DNA sequencing to detect FLCN mutations. However, for a minority patients with clinical BHD no mutation can be detected using these techniques. Large intragenic deletions and duplications have been identified in such patients ( Kunogi. New work from Ding. That were foun...
A role for Matrix Metalloproteinases in BHD? | BHD Research
https://bhdresearch.scienceblog.com/687/a-role-for-matrix-metalloproteinases-in-bhd
Your Resource for Birt-Hogg-Dubé Syndrome. Skip to primary content. A role for Matrix Metalloproteinases in BHD? May 15, 2015. The BHD protein folliculin ( FLCN. Plays a role in numerous signalling pathways and cellular processes. Although mutations in. Are only firmly linked to the development of fibrofolliculomas, pulmonary cysts and renal tumours it is possible that disruption of these pathways also plays a role in other phenotypes. Recently Kapoor. A significant reduction in. MMPs are important for v...
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BHD Research – Your Resource for Birt-Hogg-Dubé Syndrome
Your Resource for Birt-Hogg-Dubé Syndrome. Folliculin regulates fluid stress-induced mTORC1 suppression in primary cilia. September 1, 2017. August 30, 2017. The transcriptional landscape of tuberous sclerosis complex. August 25, 2017. August 29, 2017. 100,000 genomic insights into cancer and rare diseases. August 18, 2017. August 21, 2017. A haploid human genome comprises of 23 chromosomes, roughly 20,000 genes and is encoded by approximately 3 million base pairs (the building blocks of DNA – A, T...
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