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Published in 2018 at "Breast Cancer Research and Treatment"
DOI: 10.1007/s10549-018-4777-z
Abstract: BackgroundThe functions of many proteins are tightly regulated with a complex array of cellular functions including ubiquitination. In cancer cells, aberrant ubiquitination may promote the activity of oncogenic pathways with subsequent tumour progression. Kelch-like family…
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Keywords:
breast cancer;
kelch like;
expression;
cancer ... See more keywords
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Published in 2017 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.10.049
Abstract: Kelch-like protein 7 (KLHL7) is a component of Cul3-based Cullin-RING ubiquitin ligase. Recent studies have revealed that mutations in klhl7 gene cause several disorders, such as retinitis pigmentosa (RP). Although KLHL7 is considered to be…
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Keywords:
tut1 ubiquitination;
nucleolar integrity;
klhl7;
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Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.08.009
Abstract: Biallelic pathogenic variants in KLHL7 are known to result in Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) like phenotype and Bohring-Opitz-like syndrome. In this report, a trio whole-exome sequencing (WES) was performed in proband…
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Keywords:
bohring opitz;
ciss1 like;
btb domain;
klhl7 ... See more keywords