Articles with "klhl7" as a keyword



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Clinical and biological roles of Kelch-like family member 7 in breast cancer: a marker of poor prognosis

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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… read more here.

Keywords: breast cancer; kelch like; expression; cancer ... See more keywords
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KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa.

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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… read more here.

Keywords: tut1 ubiquitination; nucleolar integrity; klhl7;
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Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.

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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… read more here.

Keywords: bohring opitz; ciss1 like; btb domain; klhl7 ... See more keywords