December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
7 citations
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July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
56 citations
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November 2007 in “Molecular and cellular endocrinology” This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.
August 1994 in “Molecular Endocrinology” This study found that AtT-20 pituitary cells with higher cAMP-dependent kinase activity had larger calcium currents and significantly increased beta-endorphin release compared to cells with lower kinase activity.
March 2007 in “Journal of Cell Science” This study found that keratin K1014chim expression in mice did not reduce epidermal cell proliferation but increased susceptibility to benign tumors, challenging previous beliefs about K10's role in inhibiting tumor development.
1 citations
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April 2025 in “Animals” In this study, nucleotide sequence variation in the KRTAP13-3 gene was associated with changes in heterotypic hair fibre diameter variation in Chinese Tan sheep.
46 citations
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June 2013 in “Journal of structural biology” This study suggests that the mechanical robustness of hair may be enhanced by the binding interactions of keratin-associated proteins, particularly KAP8.1, with intermediate filament proteins.
8 citations
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January 2017 in “Stem Cells International” This study found that overexpression of sFRP4 in skin cells reduces Wnt signaling activation, leading to decreased melanocyte differentiation in regenerating hair follicles.
31 citations
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March 2016 in “Journal of Investigative Dermatology” AKR1B10 enzyme may cause keloid scars and could be a treatment target.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
19 citations
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December 2015 in “Journal of Investigative Dermatology” This study found that keratin 17 expression is initially down-regulated and later strongly up-regulated by ionizing radiation in a rat model, with p53 repressing early transcription.
1 citations
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August 2015 in “Experimental Dermatology” This review discusses the roles of KIT and mast cells in skin physiology and pathology using different genetic models and reports no new clinical results; the authors suggest further exploration of KIT deficiency.
April 2017 in “Journal of Investigative Dermatology” In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This commentary discusses the crucial role of the alternative splicing factor Esrp1 in maintaining skin barrier function and its association with skin diseases like atopic dermatitis and psoriasis, but reports no new clinical results.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
26 citations
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September 1999 in “Canadian Journal of Botany” This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.
April 2024 in “Anais Brasileiros de Dermatologia” 226 citations
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January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
January 2001 in “Acta Academiae Medicine Militaris Tertiae” In this study, the researchers reported that the expression of keratin 14 in the skin and hair follicles of neonatal and juvenile rats differs from that observed in adults or human embryos.
19 citations
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February 2013 in “Archives of Dermatological Research” July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
7 citations
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January 2019 in “PeerJ” This study found that intradermal injection of Secreted Frizzled-related Protein 4 inhibits, but does not block, hair follicle regeneration in mice, suggesting potential therapeutic applications for hair follicle regeneration disorders.
20 citations
,
November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
4 citations
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June 1998 in “The Journal of Clinical Endocrinology & Metabolism” This study found that keratinocyte growth factor is a potent mitogen in human hyperplastic prostate cells, suggesting it plays an important role in prostate growth by acting in a paracrine manner.
9 citations
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August 2020 in “International Journal of Molecular Sciences” This review examines compounds that activate IK1 channels, highlighting their potential for developing Kir channel agonists and addressing safety concerns, but does not report new experimental findings.
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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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
November 2022 in “Journal of Investigative Dermatology” This study found that short-term treatment with ROCKi significantly increased keratinocyte stem cell proliferation without affecting their stemness, suggesting a potential safe approach for improving in vitro keratinocyte cultures for clinical applications.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
November 2022 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” In this study, the pi4kβ1β2 double mutant in Arabidopsis thaliana exhibited altered root growth, increased susceptibility to Blumeria graminis, and a potential correlation between PI4K activity and auxin response and immunity due to changes in vesicular trafficking and actin filaments.