KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia

Cui, Jun; Zhao, Qian; Song, Zhen; Chen, Zhiming; Zeng, Xin; Wang, Chu; Lin, Zhimiao; Wang, Fengchao; Yong, Yang

doi:10.1016/j.jid.2022.01.007

Cited by 8 publications

(4 citation statements)

References 35 publications

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“…In addition, several studies have confirmed that EGFR is involved in the development of bone and growth plate, and the progression of OA [ 45 , 46 ]. KLHL24 is an E3 ubiquitin ligase, and KLHL24 overexpression has been reported impairing skin wound healing through the degradation of vimentin, and inducing alopecia via disrupting the structure of follicle stem cells [ 47 , 48 ]. In order to determine more details of these four DEFRGs in OA, we further classified OA patients according to the expression level of these key DEFRGs using unsupervised clustering analysis.…”

Section: Discussionmentioning

confidence: 99%

Identification of EGFR as an essential regulator in chondrocytes ferroptosis of osteoarthritis using bioinformatics, in vivo, and in vitro study

Sun,

Peng,

Chen

et al. 2023

Heliyon

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Section: Discussionmentioning

confidence: 99%

Identification of EGFR as an essential regulator in chondrocytes ferroptosis of osteoarthritis using bioinformatics, in vivo, and in vitro study

Sun,

Peng,

Chen

et al. 2023

Heliyon

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“…For instance, KLHL24 protein activity, whether through loss or gain of function, causes a strong dose-dependent phenotype in the heart, which seems directly related to expression of its target desmin [101,107]. The relationship to keratins in the skin is less straightforward and requires more cohesive data that may now be emerging with new studies [102][103][104]. Functional studies combined also suggest that the phenotype associated with DP reduction is both dose-and organ-dependent in nature, which is important knowledge for future interventions.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, another study investigating the occurrence of alopecia showed that KLHL24 in skin regulates hair maintenance by mediating the stability of keratin 15. The presence of mutated protein Val2_Met29del disrupted the structure of hair stem follicles, leading to alopecia in mice [104].…”

Section: Klhl24 Variants Causing An Altered Klhl24 Proteinmentioning

confidence: 99%

Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction

Vermeer

Andrei

Marsili

et al. 2022

IJMS

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Genetic variants in gene-encoding proteins involved in cell–cell connecting structures, such as desmosomes and gap junctions, may cause a skin and/or cardiac phenotype, of which the combination is called cardiocutaneous syndrome. The cardiac phenotype is characterized by cardiomyopathy and/or arrhythmias, while the skin particularly displays phenotypes such as keratoderma, hair abnormalities and skin fragility. The reported variants associated with cardiocutaneous syndrome, in genes DSP, JUP, DSC2, KLHL24, GJA1, are classified by interpretation guidelines from the American College of Medical Genetics and Genomics. The genotype–phenotype correlation, however, remains poorly understood. By providing an overview of variants that are assessed for a functional protein pathology, we show that this number (n = 115) is low compared to the number of variants that are assessed by in silico algorithms (>5000). As expected, there is a mismatch between the prediction of variant pathogenicity and the prediction of the functional effect compared to the real functional evidence. Aiding to improve genotype–phenotype correlations, we separate variants into ‘protein reducing’ or ‘altered protein’ variants and provide general conclusions about the skin and heart phenotype involved. We conclude by stipulating that adequate prognoses can only be given, and targeted therapies can only be designed, upon full knowledge of the protein pathology through functional investigation.

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“…For instance, KLHL24 protein activity, whether through loss or gain of function, causes a strong dose-dependent phenotype in the heart, which seems directly related to expression of its target desmin 101,107 . The relationship to keratins in the skin is less straightforward and requires more cohesive data that may now be emerging with new studies [102][103][104] . Functional studies combined also suggest that the phenotype associated with DP reduction is both dose-and organdependent in nature, which is important knowledge for future interventions.…”

Section: Disscussionmentioning

confidence: 99%

Traditional and novel genes associated with skin fragility syndrome

Andrei

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KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia

Cited by 8 publications

References 35 publications

Identification of EGFR as an essential regulator in chondrocytes ferroptosis of osteoarthritis using bioinformatics, in vivo, and in vitro study

Identification of EGFR as an essential regulator in chondrocytes ferroptosis of osteoarthritis using bioinformatics, in vivo, and in vitro study

Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction

Traditional and novel genes associated with skin fragility syndrome

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