CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study discovered that the gene Tfap2b identifies a melanocyte stem cell population in zebrafish, essential for regenerating melanocytes with multi-fate potential into adult pigment cells.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
February 2013 in “Journal of the American Academy of Dermatology” In this study, the HairCheck device was reported to accurately assess changes in hair density and diameter, suggesting its usefulness in monitoring alopecia progression and treatment response.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
January 2024 in “International journal of molecular sciences” This study found that boosting the synthesis of neural-derived 17β-estradiol effectively counteracted the impairment of hippocampal long-term potentiation caused by amyloid beta 1-42 in rat hippocampal slices, with the effect seemingly linked to glutamate NMDAR signaling.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
February 2026 in “Biophysical Journal” 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
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March 2015 in “Stem Cell Research & Therapy” This study indicates that ABCG2 expression identifies interfollicular keratinocyte progenitor cells in human epidermis and suggests it could help enrich these stem cells for research and treatment.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
6 citations
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October 1998 in “Experimental Dermatology” This study found that exogenous EGF inhibited hair follicle development and decreased follicle density in both Tabby and normal mice, suggesting interactions between EGF and the Ta peptide influence normal skin phenotype.
48 citations
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March 1993 in “The Laryngoscope” This study found that EGF receptors are aberrantly regulated and persist in cholesteatoma epithelium, suggesting a hyperproliferative character compared to normal human skin.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
8 citations
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July 2022 in “International Journal of Molecular Sciences” This study found that in estrogen receptor-positive breast cancer cells, 17β-estradiol repressed polyamine oxidase transcription by interacting with AP-1 sites on its promoter.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
35 citations
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July 2010 in “The FEBS journal” In this study, researchers identified a highly reactive, isozyme-specific sequence for TGase 3, contributing to understanding its distinct functional role and activity distribution in the mouse epidermis.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
9 citations
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October 2017 in “Frontiers in plant science” This study found that the peach gene CTG134 mediates auxin-ethylene crosstalk, affecting root hair growth and hormone-regulated processes in plants.
This study found that extracellular Granzyme B contributes to skin aging and impaired healing in ApoE knockout mice by degrading essential extracellular matrix components like decorin and fibronectin.
41 citations
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January 2015 in “Development” This study found that inducing Atoh1 expression in transgenic mice is sufficient to generate new Merkel cells in the epidermis, with variations by skin location, developmental age, and hair cycle stage.
March 2024 in “Preprints.org” In a study conducted on mice, researchers observed that exposure to ionizing radiation led to significant metabolic imbalances, including dyslipidemia and disruptions in amino acid metabolism, with activated protein C providing partial protection by normalizing certain plasma metabolites and lipids.
1 citations
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July 1997 in “The Lancet” This study suggests that a newly discovered protein, AMY117, found in Alzheimer's disease brain lesions may be crucial in the disease's development and progression.
52 citations
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May 2006 in “Journal of Structural Biology” This study identified two key pentapeptide quasi-repeats in human keratin-associated proteins, which are similar to motifs found in sheep wool.
37 citations
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August 2014 in “Journal of experimental botany” This study identified the AtPRPL1 gene in Arabidopsis thaliana as being involved in cell elongation processes, despite unclear changes in cell wall composition from its altered expression.
23 citations
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December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, CRISPR/Cas9-engineered Arabidopsis mutants revealed diverse functional differences among expansin proteins essential for root hair growth, highlighting variability in protein trafficking, cell wall binding, and evolutionary changes in critical residues affecting wall loosening.