A. Molecular pathology

protein domains
21 April

Examples
protein interaction domains
Open References
Oncodomains: A protein domain-centric framework for analyzing rare variants in tumor samples. 2017. doi:10.1371/journal.pcbi.1005428.
retroelements
21 April

References.
Retroelement-guided protein diversiﬁcation abounds in vast lineages of Bacteria and Archaea. 2017. http://www.nature.com/articles/nmicrobiol201745 http://www.nature.com/articles/nmicrobiol201745.epdf
ADIPOR2
25 March

|WKP|
Definition: Adiponectin is a protein which in humans is encoded by the ADIPOQ gene. It is involved in regulating glucose levels as well as fatty acid breakdown.
See also
ADIPOR1
ADIPOR2
Paywall references
Structural biology: Receptors grease the metabolic wheels. doi:10.1038/nature21900.
ADIPOQ
25 March

adiponectin, C1Q and collagen domain containing
|WKP|
Definition: Adiponectin is a protein which in humans is encoded by the ADIPOQ gene. It is involved in regulating glucose levels as well as fatty acid breakdown.
See also
ADIPOR1
ADIPOR2
Paywall references
Structural biology: Receptors grease the metabolic wheels. doi:10.1038/nature21900.
CREBs
16 March

Examples
ATF1
CREB1
CBL
8 March

WKP
Pathology
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. (#19387008#)
Open references
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Grand FH, Hidalgo-Curtis CE, Ernst T, Zoi K, Zoi C, McGuire C, Kreil S, Jones A, Score J, Metzgeroth G, Oscier D, Hall A, Brandts C, Serve H, Reiter A, Chase AJ, Cross NC. Blood. 2009 Jun 11;113(24):6182-92. (...)
ASXL1
8 March

WKP
Definition: Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.
Function
In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo.
The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci.
The protein is thought to disrupt chromatin in (...)
DUSP22
6 March

Dual specificity protein phosphatase 22 WKP
Definition: Dual specificity protein phosphatase 22 is an enzyme that in humans is encoded by the DUSP22 gene.
Interactions
DUSP22 has been shown to interact with MAPK1 and MAPK8.
Pathology
Indolent ALK-Negative Anaplastic Large Cell Lymphoma (ALCL) with DUSP22 Rearrangement (#28042680#)
primary cutaneous Anaplastic Large Cell Lymphoma (ALCL) with DUSP22 Rearrangement (#28042680#)
See also
IRF4 IRF4-rearranged ALCL
Open (...)
H3K27me3
6 March

|WKP|
Definition: H3K27me3 is the trimethylated lysine residue at position 27 in the protein histone H3. H3K27me3 is known as a repressive mark because of its association with repression of gene expression.
EZH2 protein of polycomb repressive complex 2 (PRC2) transfers the methyl group to H3K27 and UTX in human removed the trimethylation in human.
Images
H3K27me3 lost in majority of MPNST, retained in synovial sarcoma https://twitter.com/JMGardnerMD/status/867325504159985664 (...)
CYLD
3 March

WKP
Definition: CYLD, is a human gene encoding a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme.
Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Mutations in this gene have been associated with cylindromatosis , multiple familial trichoepithelioma , and Brooke-Spiegler syndrome.
See also
cylindroma
turban (...)

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A. Molecular pathology

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