Results 51 to 60 of about 1,483,986 (159)

EMMA--European Mouse Mutant Archive Resource Database

, 2009
The European Mouse Mutant Archive - EMMA is a non-profit repository for the collection, archiving (via cryopreservation) and distribution of relevant mutant strains essential for basic biomedical research.
Ewan Birney, Gaetan Soulat, Vanessa Larrigaldie, Lluis Montoliu, Marzia Massimi, Steve Brown, AnnMarie Mallon, Sabine Fessele, Richard H Butler, ChaoKung Chen, Damian Smedley, Susan Marschall, Johan Leyritz, Yann Herault, Martin Fray, Abel UretaVidal, Ferdinando Scavizzi, Glauco P TocchiniValentini, Karen Pickford, Phil Wilkinson, Jitka Sengerova, Marcello Raspa, Martin Hrabe de Angelis, Michael Hagn, Amanda Pickard, Raffaele Matteoni   +25 more
core  

Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+, K+-ATPase a3 missense mutant mice [PDF]

, 2013
Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of short stature
Dawson, Neil, Drinkhill, Mark, Clapcote, Stephen, Pratt, Judith, Fox, Susan, Kirshenbaum, Greer, Johnston, Tom, Edwards, Ian, Mullins, Jonathan, Brotchie, Jonathan, Roder, John   +10 more
core   +1 more source

Dissecting the Molecular Mechanisms of Motor Neurone Disease in Yeast and Worms [PDF]

Superoxide dismutase 1 (SOD1) is an enzyme responsible for intracellular breakdown of toxic reactive oxygen species in prokaryotes and eukaryotes. Mutations in SOD1 are linked to the motor neurone disease Amyotrophic lateral sclerosis (ALS), with around ...
Peswani, Amber Rose
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Complexes formed by mutant p53 and their roles in breast cancer

, 2018
Arianna Bellazzo,1 Daria Sicari,1,2 Elena Valentino,1,2 Giannino Del Sal,1,2 Licio Collavin1,2 1National Laboratory CIB (LNCIB), AREA Science park, Trieste, Italy; 2Department of Life Sciences, University of Trieste, Trieste, ItalyAbstract: Breast ...
Sicari D, Bellazzo A, Collavin L, Valentino E, Del Sal G   +4 more
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IDH-Mutant Diffuse Glioma: From Metabolic Origins to Targeted Therapy. [PDF]

J Clin Med
Urbanic-Purkart T.
europepmc   +1 more source

Establishment of a Common Marmoset Lineage Carrying a Frameshift Mutation in SETD1A, a Schizophrenia Risk Gene. [PDF]

J Neurochem
Wei Z, Nakao H, Hiraoka Y, Harbers M, Abe Y, Goto M, Tamano M, Saeki M, Kishi Y, Aiba A.   +9 more
europepmc   +1 more source

Safe and Stable Germline Transmission of MSTN Mutations in Cattle. [PDF]

Anim Genet
Gim GM, Choi BY, Yi J, Eom KH, Yum SY, Jung DJ, Kim DY, Yang B, Kim JS, Shim D, Jang G.   +10 more
europepmc   +1 more source

Mutation-resolved single-cell transcriptomics reveals enhanced β-amyloid clearance in TET2-mutant human monocytes. [PDF]

JCI Insight
Yang X, Fatima S, Sampere-Birlanga S, Ware A, Shumliakivska M, Zanders L, Radhakrishnan S, Luxán G, John D, Günther S, Mas-Peiro S, Dimmeler S, Zeiher AM, Abplanalp WT.   +13 more
europepmc   +1 more source

MEK inhibitors for the treatment of NRAS mutant melanoma

, 2018
Saro Sarkisian,1 Diwakar Davar2 1Division of General Internal Medicine, University of Pittsburgh, Pittsburgh, PA, USA; 2Division of Hematology-Oncology, Hillman Cancer Center and University of Pittsburgh, Pittsburgh, PA, USA Abstract: Melanoma is ...
Davar D, Sarkisian, Saro, Sarkisian S, Davar, Diwakar   +3 more
core  

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human <i>MCPH1</i> Gene: Systematic In Silico Predictions and Implications for Structure and Function. [PDF]

Hum Mutat
Kousar R, Latif S, Alharthi MTH, Tabassum S, Khan MA, Alayoubi AM, Qarmali M, Latif M.   +7 more
europepmc   +1 more source