Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle
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DOI: 10.1007/s10875-019-00700-w
Abstract: To the Editor, ADA2 (previously known as CECR1, cat eye syndrome chromosome region, candidate 1) mutations encoding adenosine deaminase 2 (ADA2) were found to cause the first molecularly defined monogenic vasculitis syndrome [1, 2]. Initial… read more here.
Keywords: dimerization domain; domain ada2; unreported missense; missense mutation ... See more keywords
Validation of the solution structure of dimerization domain of PRC1
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DOI: 10.1371/journal.pone.0270572
Abstract: Cell-cycle dependent proteins are indispensible for the accurate division of cells, a group of proteins called Microtubule-associated proteins (MAPs) are important to cell division as it bind microtubules and participate with other co-factors to form… read more here.
Keywords: structure; solution structure; solution; prc1 ... See more keywords
N-Terminus-Mediated Solution Structure of Dimerization Domain of PRC1
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DOI: 10.3390/cimb44040111
Abstract: Simple Summary The solution structure of the N-terminal domain of Protein Regulator of Cytokinesis 1 (PRC1) was determined, and compared with the previously published crystal structure, significant differences were found. Extensive analyses were carried out… read more here.
Keywords: structure; spectroscopy; solution structure; solution ... See more keywords