April 2016 in “Journal of Investigative Dermatology” This study reported that the absence of Lsh in skin led to significant epidermal hyperplasia and altered gene expression, suggesting its crucial role in regulating epidermal proliferation, differentiation, and wound healing.
This study identified a new gene in sheep, KRTAP36-2, discovering variants associated with wool yield. Variations in this gene were linked to the efficiency of fleece conversion from greasy to clean, which may enhance wool production.
9 citations
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December 2018 in “Journal of Natural Fibers” This study found that K33A was significantly upregulated in lustrous Magra wool follicles, while other keratin and KAP genes showed downregulation, impacting wool's physical properties like luster.
This study found that selective deletion of PIKFyve kinase using a PF4 promoter in mice led to defective platelet lysosome biogenesis and a prothrombotic effect, with unexpected macrophage infiltration in multiple organs.
3 citations
,
December 2021 in “Recent patents on anti-cancer drug discovery” This review examines the role of SET7/9 in non-histone methylation and its implications in various diseases, including cancer, but presents no new clinical results.
3 citations
,
September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
72 citations
,
May 1993 in “The Journal of Cell Biology” This study detailed the structure and amino acid composition of sheep trichohyalin, noting its presence in various tissues and suggesting a possible functional role beyond structural support in hair follicles.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
14 citations
,
April 2016 in “PloS one” This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.
118 citations
,
January 2004 in “European Journal of Cell Biology” Balanced protease activity is crucial for healthy skin and hair development.
3 citations
,
August 2018 in “Journal of Structural Biology” KAP8.1 protein is crucial for hair structure and interacts with keratin 85.
This study demonstrated that Reverse Protein Engineering can decrease the size of Firefly Luciferase from 550 to less than 80 amino acids, but further research is needed to ensure these smaller peptides retain bioluminescent activity.
Defective protein folding due to a mutation is key in ANE syndrome.
41 citations
,
November 2013 in “Experimental Dermatology” This study found that leptin acts as an inducer of the anagen phase in hair follicles, suggesting its role as a potential player in hair biology.
108 citations
,
July 2009 in “Experimental Dermatology” This review discusses the role of leptin in skin biology and pathology, highlighting its potential in enhancing skin regeneration, hair cycle progression, and wound healing, but reports no new clinical results.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
January 2025 in “Cellular and Molecular Biology” This study found that in Liaoning cashmere goats, overexpression of the PIP5K1A gene enhances skin fibroblast proliferation, while interference with this gene reverses melatonin-induced proliferation, and PIP5K1A regulates certain miRNA expressions, suggesting a role in improving cashmere yield and quality.
3 citations
,
May 2025 in “Cell Death and Disease” This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new FAK isoform, FAKΔe4, which is regulated by ECM stiffness and affects cell migration, invasion, and mechanosensing in human-derived data and engineered models.
43 citations
,
April 1996 in “Journal of Investigative Dermatology”
68 citations
,
July 2011 in “Journal of Biochemistry/The journal of biochemistry” This review discusses newly identified non-Edg family lysophosphatidic acid receptors, detailing their roles in vascular development, platelet activation, and hair growth, and reports no clinical results.
49 citations
,
January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
11 citations
,
May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
28 citations
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January 2005 in “Photochemistry and Photobiology” This study found that overexpression of PKCepsilon in mouse epidermis was associated with increased susceptibility to metastatic squamous cell carcinoma, potentially through a mechanism involving tumor necrosis factor-alpha.