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Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees
(2011)
Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...
Immune response to bacteria induces dissemination of Ras-activated Drosophila hindgut cells
(2012)
Although pathogenic bacteria are suspected contributors to colorectal cancer progression, cancer-promoting bacteria and their mode of action remain largely unknown. Here we report that sustained infection with the human ...
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1
(2014)
Background and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a ...
Deficiencies in the Fanconi Anemia DNA damage response pathway increase sensitivity to HPV-associated head and neck cancer
(2010)
Patients with the rare genetic disease, Fanconi anemia (FA), are highly susceptible to squamous cell carcinomas arising at multiple anatomic sites including the head and neck region. Human papillomaviruses (HPVs), particularly ...
Human papillomavirus type 16 E6 and E7 oncoproteins act synergistically to cause head and neck cancer in mice
(2010)
High-risk human papillomaviruses (HPVs) contribute to cervical and other anogenital cancers, and they are also linked etiologically to a subset of head and neck squamous cell carcinomas (HNSCC). We previously established ...
The HPV16 oncogenes cause aberrant stem cell mobilization
(2013)
Human Papilloma Virus related epithelial cancers have been speculated to derive from virus-infected tissue stem cells. Stem cells also are thought to provide a reservoir of latently infected cells that can persist for long ...