4 citations
,
October 2021 in “Scientific Reports” This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.
April 2026 in “Journal of Investigative Dermatology” This study highlights that ZNF750, a zinc-finger transcription factor, is crucial for epidermal differentiation and barrier formation in skin by activating genes involved in lipid processing and stratum corneum development, and links ZNF750 sequence variations to skin inflammatory diseases like psoriasis.
24 citations
,
May 2022 in “BMC Veterinary Research” This study identified key mRNAs and lncRNAs, along with related pathways, that play potentially important roles in hair follicle development and cycling in cashmere goats.
83 citations
,
May 2011 in “Experimental Dermatology” In this study, researchers identified nine new sheep keratin genes, highlighting species-specific differences in the expression and compartmentalization of wool-related keratin genes compared to humans.
January 2012 in “Zhongguo shouyi xuebao” In this study, significant differences in the expression of type I IRS keratin genes were observed in the groins of three sheep breeds during wool growth, related to hair follicle density.
55 citations
,
June 2014 in “Nature Communications” This study found that overexpression of the transcription factor Tcf3 accelerates keratinocyte migration and skin wound healing in mice, highlighting its potential as a therapeutic target for wound repair.
30 citations
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October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
2 citations
,
February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
4 citations
,
September 2016 in “World Rabbit Science” This study observed that gene expression differences in Rex rabbits with varying wool densities suggest the involvement of specific genes and signaling pathways, including Shh and Eph, in hair follicle development.
4 citations
,
March 2014 in “The FASEB Journal” This study observed that deleting ARNT in keratinocytes of mice reduced zigzag hair production and altered hair follicle differentiation, likely by affecting the expression of specific cyclin-dependent kinase inhibitors.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
39 citations
,
August 1998 in “FEBS Letters” In this study, researchers identified two novel peptidylarginine deiminases from treated rat keratinocytes, both showing enzyme activity with PAD‐R11 reflecting a characteristic of epidermal enzymes.
This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” In this study, researchers found that oar-miR-377 regulates secondary hair follicle development in sheep by downregulating the SLC24A2 gene, and a specific SNP in oar-miR-377 is significantly associated with wool fiber diameter variation in Chinese Merino sheep.
210 citations
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February 2008 in “Nature genetics” This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.
28 citations
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October 2014 in “Development” This study revealed that frizzled 3 can fully rescue polarity defects in frizzled 6-null mice, while frizzled 6 can partially rescue defects in frizzled 3-null mice, highlighting conserved signaling roles in these proteins.
January 2026 in “Pediatrics International” This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.
4 citations
,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that ELL is crucial for maintaining the proliferative capacity of the basal layer in human epidermal keratinocytes by stabilizing RNA polymerase II at the transcription start site.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
132 citations
,
February 2002 in “Journal of Biological Chemistry” This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.
46 citations
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November 2007 in “Gene Expression Patterns” This study observed that Trps1 gene expression in mice is precisely regulated in skin development, particularly during hair follicle morphogenesis, with distinct localization patterns in different cell types.
1 citations
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December 2022 in “Animals” This study found that miR-27a may influence sheep hair follicle stem cell proliferation and apoptosis by targeting PIK3R3, affecting the AKT/MTOR pathway.
17 citations
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August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
March 2024 in “Research Square (Research Square)” This study found that in sheep, the microRNA oar-miR-377 regulates hair follicle development by targeting the SLC24A2 gene, and identified a genetic variation associated with wool quality, suggesting potential markers for breeding.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.
January 2013 in “Scholarworks (University of Massachusetts Amherst)” This dissertation reveals that FERONIA, a cell wall-binding receptor kinase, plays a crucial role in regulating plant functions such as sugar signaling, pollen tube reception, and RAC/ROP-mediated auxin signaling.