12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
8 citations
,
January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.
September 2016 in “Journal of Dermatological Science” This study found that knockout mice lacking SMS1 showed reduced body weight and hair loss, indicating a role for SMS1 in normal growth and hair health.
11 citations
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August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse model study, researchers found that deleting the ASH2L gene in epidermal progenitor cells led to thinner epidermal layers, delayed hair follicle development, and reduced epidermal stem cell pools, with alterations in genes related to hair follicle development and the Notch signaling pathway.
4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
171 citations
,
June 2004 in “Journal of Investigative Dermatology” GLI2 activates GLI1, promoting skin tumor growth and hair development.
8 citations
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March 2015 in “International Journal of Oncology” This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.
43 citations
,
February 1999 in “Biochemical Journal” This study found that transgenic mice overexpressing the SSAT gene under a metallothionein promoter suffered delayed hair loss and were highly sensitive to polyamine analogues, which led to significant liver changes and mortality.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
February 2024 in “Plant Cell Reports” This study found that the retromer protein AtVPS29 in Arabidopsis plants modulates gibberellin signaling by upregulating the SLY1 protein and downregulating the RGA protein, ultimately enhancing the development of the root meristematic zone.
123 citations
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November 2012 in “Stem cells” This study reports that miR-302 promotes pluripotency by inhibiting NR2F2 and indirectly regulating OCT4 in stem cells, enhancing reprogramming efficiency when added to traditional factors.
January 2014 in “theses.fr (ABES)” In this research, Sertoli cell line model ST38c demonstrated that the androgen receptor regulates hormone pathways through specific coregulators, suggesting roles for SRC-2 and HBO1 in testicular development and androgen responsiveness.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
December 2014 in “Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)” In this study, researchers found that overexpressing SOX2 in colorectal cancer cell lines can cause DNA damage and cell death, while repressing it reduces tumor growth and cell aggressiveness.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
This study suggests that finasteride might reduce SARS-COV-2 infectivity by inducing epigenetic changes in the TMPRss2 protein, which is crucial for viral activation and multiplication.
53 citations
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October 2012 in “The FASEB Journal” This study found that bimatoprost stimulated hair growth in both human scalp follicle cultures and mouse pelage in vivo, suggesting it might offer a promising treatment for scalp alopecias.
October 2007 in “Revue du Rhumatisme” March 2021 in “Medico-Legal Update” In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
This study found that the transcription factor Meis2 regulates the maturation and innervation of sensory neurons in mice, affecting their response to light touch.
29 citations
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February 2007 in “Hormone and metabolic research” This study found that antisense oligonucleotides can significantly reduce androgen receptor expression in cultured human sebocytes and may offer new therapeutic possibilities for androgen-associated skin diseases.
April 2023 in “Journal of clinical and translational science”
63 citations
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November 2009 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the subtilisin protease Sub3 from Microsporum canis is essential for adherence to the feline epidermis but is not necessary for invading epidermal structures.
13 citations
,
December 2005 in “Traffic” In this study, researchers found that syntaxin 9, a novel syntaxin family member, interacts specifically with the epidermal growth factor receptor and may influence its transport and signaling in some epithelial cells.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.