11 citations
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September 2011 in “Biochemical journal” This study found that neurotrophin-4 regulates Cav3.2 T-current expression in D-hair neurons via TrkB receptor activation, highlighting its role in mechanosensitive function.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that TCDD exposure in mice enhanced sebaceous gland differentiation and lipid production before causing seboatrophy, providing insights into the cellular events that may contribute to chloracne pathogenesis.
27 citations
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June 2013 in “Genes & development” This study found that L-type channel blockers can induce hair growth in Timothy syndrome by overcoming delays in anagen phase, suggesting a potential therapeutic role for tissue regeneration.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
5 citations
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August 2019 in “iScience” In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the peach gene CTG134, involved in auxin-ethylene interactions, plays a role in hormonal regulation during root hair formation in Arabidopsis and tobacco.
35 citations
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August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
46 citations
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May 2003 in “Mechanisms of Development” This study found that overexpression of the calcium sensing receptor in transgenic mice accelerates epidermal differentiation and hair growth, suggesting its role in enhancing calcium signaling and interaction with other pathways.
101 citations
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November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
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.
6 citations
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October 2022 in “International Journal of Molecular Sciences” This study found that Fgf5 mutant mice exhibited longer hair, particularly in males, likely due to a prolonged anagen phase in the hair cycle.
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.
4 citations
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June 2025 in “Medeniyet Medical Journal” This review explores the role of the TMPRSS2 gene in facilitating SARS-CoV-2 infection and its potential as a therapeutic target in COVID-19 and other respiratory infections, highlighting challenges in developing selective inhibitors.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
47 citations
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February 2015 in “European Journal of Clinical Investigation” This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.
24 citations
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January 2011 in “Sexual Development” This study observed that chemically-induced intersex frogs displayed altered brain mRNA profiles, with finasteride increasing certain hormone-related gene expressions and fadrozole reducing aromatase activity without affecting gene transcript levels.
22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
14 citations
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September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
3 citations
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April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
September 2023 in “World Rabbit Science” In this study using Angora rabbits, researchers found that the FRZB gene inhibits hair follicle development by modulating the Wnt/β-catenin signaling pathway, affecting the expression of various genes related to this pathway and altering cell proliferation and apoptosis.
6 citations
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January 2014 in “Genetics and Molecular Research” This study constructed a hair follicle-specific expression vector for IGFBP-5 in Inner Mongolia Cashmere goat cells, allowing for future functional genetic analyses and potential use in nuclear transfer.
This study found that Pygo2 is crucial for early intestinal hyperproliferation induced by stabilized β-catenin, suggesting it as a potential target for therapeutic intervention in cancers with β-catenin mutation.
1 citations
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January 2013 This study observed that inducible deletion of the Ugcg gene in mouse epidermis led to a significant reduction in GlcCers and epidermal POS-Cers, causing impaired skin barrier function and delayed wound healing.
29 citations
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December 2004 in “Developmental biology” In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.
7 citations
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January 2009 in “Biological & pharmaceutical bulletin” This study found that applying ferrous ferric chloride skin lotions to newborn mice stimulated skin cell proliferation and differentiation, increased hair growth, and inhibited alopecia-related hair loss.
July 2002 in “Science s STKE” In this study, the researchers reported that altering β-catenin signaling in a transgenic mouse model led to changes in skin cell fate, notably converting hair follicle cells into epidermal cells and forming cysts instead of follicles.
28 citations
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October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.