Dilution: 1:50 - 1:200
Retrieval method: HIER pH6
Working concentration: 0.04-0.4 µg/ml
Fixation/Permeabilization: PFA/Triton X-100
Working concentration: 0.25-2 µg/ml
Orthogonal validation of protein expression using WB by comparison to RNA-seq data of corresponding target in high and low expression cell lines.
This antibody has been used for staining of 44 normal human tissue samples as well as human cancer samples covering the 20 most common cancer types and up to 12 patients for each cancer type. The results are part of an ongoing effort to map the human proteome using antibodies.
Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage
Skelet Muscle , 2018 Aug 2; 8:24. Epub 2018 Aug 2
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function
J Biol Chem , 2018 May 10; 293(25):9841-9853. Epub 2018 May 10
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Nature Genetics , January 09, 2017
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
BMC Med Genet , 2016 Sep 15; 17:66. Epub 2016 Sep 15
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Nat Genet , 2012 Dec; 44(12):1370-1374. Epub 2012 Nov 11
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