184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
6 citations
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September 2023 in “Experimental physiology” In this study, researchers identified the PLD-mGluR protein in primary mechanosensory terminals as the homomeric GluK2 kainate receptor, functioning purely metabotropically, which is suggested to be common to various sensory endings.
3 citations
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April 2024 in “Molecular Human Reproduction” This study found that paxillin knockdown in human granulosa-derived cells and mouse models decreased androgen receptor protein levels and altered gene expression, suggesting paxillin's role in protecting against androgen excess effects, as observed in a polycystic ovary syndrome mouse model.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Pik3r1 Y657* mice, which model human SHORT syndrome, show increased energy expenditure despite insulin resistance, but this is not due to changes in locomotion, thermoregulation, or Ucp1-dependent thermogenesis, suggesting a different metabolic mechanism may protect against lipotoxicity.
36 citations
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August 2016 in “The Plant cell” This study found that downregulating PI3K in common bean severely impaired symbiosis with beneficial microorganisms, indicating an essential role for autophagy-related processes in these mutualistic interactions.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
August 2012 in “Nature Cell Biology” In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
This study identified CXXC5 as a key mediator of hair loss induced by PGD2 and DHT via suppression of the Wnt/β-catenin pathway, with implications for potential therapeutic targets.
33 citations
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August 2000 in “Experimental Cell Research”
38 citations
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June 2018 in “Plant & cell physiology/Plant and cell physiology” This study found that overexpressing PLC5 in Arabidopsis thaliana reduced root growth but improved drought tolerance, and suggests PIP2 is crucial for root hair growth.
October 2025 in “Proceedings of the National Academy of Sciences” This study identifies the PI4P-RHD4 module as a key regulator of GET pathway receptor dynamics in Arabidopsis, affecting TA protein insertion and root hair growth.
January 2009 in “한국피부장벽학회지” This study reports that in mice, CaR plays a critical role in sensing the epidermal Ca2+ gradient, influencing keratinocyte differentiation, and affecting epidermal development.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
51 citations
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December 2006 in “Mammalian Genome” 62 citations
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December 2007 in “Journal of Cellular and Molecular Medicine” This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.
11 citations
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July 2016 in “Endocrinology” This study found that higher Lnk expression in PCOS patients may contribute to insulin resistance by inhibiting insulin signaling pathways.
January 2017 in “Clinical & medical biochemistry” This study observed that Greek Caucasian women with PCOS had distinct serum hormone levels and a specific AKT2 gene SNP, which may play a role in the condition's characteristics.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
October 2025 in “International Journal of Dermatology” Lasheras-Pérez et al. reported that JAK3 and TYK2 proteins are activated in certain forms of primary cicatricial alopecia, suggesting the JAK/TYK/STAT pathway as a potential therapeutic target for these conditions.
65 citations
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March 2004 in “Journal of Clinical Investigation” In this study, overexpression of ornithine decarboxylase accelerated basal cell carcinoma in Ptch1+/– mice under UVB exposure, while its inhibition reduced tumor induction, suggesting potential chemoprevention strategies in humans.
32 citations
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July 2018 in “FEBS letters” In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.
126 citations
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October 2012 in “PLoS ONE” This study found that reduced cytokinin levels allow plants to adapt to low potassium conditions by enhancing root hair growth, reactive oxygen species accumulation, and expression of a key potassium transporter gene.
53 citations
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August 2005 in “The Journal of Cell Biology” This study found that the absence of Sgk3 in mice leads to impaired hair follicle maturation, characterized by reduced cell proliferation, increased apoptosis, and premature regression.
9 citations
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July 2007 in “Journal of Investigative Dermatology” This study found that exposure to 12-O-tetradecanoyl-phorbol-13-acetate in mouse skin caused changes in claudin expression and localization, indicating disruption and eventual recovery of the epidermal barrier.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
52 citations
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February 2012 in “PloS one” This study found that the absence of Ctip2 in epidermal keratinocytes led to impaired wound healing in mice, affecting cell migration, proliferation, and hair follicle stem cell maintenance.
36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.