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Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2.

Stivaros SM1, Stemmer-Rachamimov AO2, Alston R3, Plotkin SR4, Nadol JB5, Quesnel A5, O'Malley J5, Whitfield GA6, McCabe MG7, Freeman SR8, Lloyd SK8, Wright NB9, Kilday JP10, Kamaly-Asl ID11, Mills SJ12, Rutherford SA13, King AT13, Evans DG14.
Journal of medical genetics.J Med Genet.2015 Aug;52(8):557-62. doi: 10.1136/jmedgenet-2015-103050. Epub 2015 Jun 23.
BACKGROUND: Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with a phenotype which includes bilateral vestibular (eighth cranial nerve) schwannomas. Conventional thinking suggests that these tumours originate at a single point along the superior division of the eighth nerve.
PMID 26104281

A naturally occurring variant of the human prion protein completely prevents prion disease.

Asante EA1, Smidak M1, Grimshaw A1, Houghton R1, Tomlinson A1, Jeelani A1, Jakubcova T1, Hamdan S1, Richard-Londt A1, Linehan JM1, Brandner S1, Alpers M2, Whitfield J2, Mead S1, Wadsworth JD1, Collinge J1.
Nature.Nature.2015 Jun 25;522(7557):478-81. doi: 10.1038/nature14510. Epub 2015 Jun 10.
Mammalian prions, transmissible agents causing lethal neurodegenerative diseases, are composed of assemblies of misfolded cellular prion protein (PrP). A novel PrP variant, G127V, was under positive evolutionary selection during the epidemic of kuru--an acquired prion disease epidemic of the Fore po
PMID 26061765

The Tsk2/+ mouse fibrotic phenotype is due to a gain-of-function mutation in the PIIINP segment of the Col3a1 gene.

Long KB1, Li Z2, Burgwin CM1, Choe SG2, Martyanov V2, Sassi-Gaha S1, Earl JP3, Eutsey RA3, Ahmed A3, Ehrlich GD3, Artlett CM1, Whitfield ML2, Blankenhorn EP1.
The Journal of investigative dermatology.J Invest Dermatol.2015 Mar;135(3):718-27. doi: 10.1038/jid.2014.455. Epub 2014 Oct 20.
Systemic sclerosis (SSc) is a polygenic, autoimmune disorder of unknown etiology, characterized by the excessive accumulation of extracellular matrix (ECM) proteins, vascular alterations, and autoantibodies. The tight skin (Tsk)2/+ mouse model of SSc demonstrates signs similar to SSc including tight
PMID 25330296