نتایج جستجو برای: hogg and yuzyk

تعداد نتایج: 16827365  

Journal: :International Journal of Obstetric Anesthesia 2021

Journal: :Human molecular genetics 2013
Monique N H Luijten Sander G Basten Tijs Claessens Marigje Vernooij Claire L Scott Renske Janssen Jennifer A Easton Miriam A F Kamps Maaike Vreeburg Jos L V Broers Michel van Geel Fred H Menko Richard P Harbottle Ravi K Nookala Andrew R Tee Stephen C Land Rachel H Giles Barry J Coull Maurice A M van Steensel

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder where patients are predisposed to kidney cancer, lung and kidney cysts and benign skin tumors. BHD is caused by heterozygous mutations affecting folliculin (FLCN), a conserved protein that is considered a tumor suppressor. Previous research has uncovered multiple roles for FLCN in cellular physiology, yet it remains unclear how the...

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