Associated Papers
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Differences in the chitinolytic activity of mammalian chitinases on soluble and insoluble substrates.
Barad BA et al.
Protein Science : a Publication of the Protein Society, 2020
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn
Loss and Gain of Human Acidic Mammalian Chitinase Activity by Nonsynonymous SNPs.
Okawa K et al.
Molecular Biology and Evolution, 2016
Genetic analysis of advanced glycation end products in the DHS MIND study.
Adams JN et al.
Gene, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00011-Table_S14.xlsx › Sheet1
The chitinase and chitinase-like proteins: a review of genetic and functional studies in asthma and immune-mediated diseases.
Ober C et al.
Current Opinion in Allergy and Clinical Immunology, 2009
Differential enzymatic activity of common haplotypic versions of the human acidic Mammalian chitinase protein.
Seibold MA et al.
The Journal of Biological Chemistry, 2009
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