76 citations
,
June 2018 in “EMBO Reports” This study demonstrates that YAP and TAZ are essential for initiating basal and squamous cell carcinomas in mice, and suggests targeting these pathways could be beneficial for treating skin cancers.
33 citations
,
June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
This study identified ISX9 as a novel agonist of the Wnt/β‐catenin pathway, which promoted hair regrowth in mice and may offer a therapeutic approach for alopecia.
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.
6 citations
,
March 2022 in “Molecules” This study found that methyl jasmonate can induce tanshinone biosynthesis in S. miltiorrhiza by affecting the expression of the SmMEC gene, as supported by RT-PCR and transcriptomic data.
March 2024 in “Plant physiology” This study found that the transcription factor GLABRA 2 inhibits ethylene production, regulating root hair growth in Arabidopsis under nutrient deficiency conditions.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
6 citations
,
March 2020 in “Anais Brasileiros de Dermatologia” This study found that the genetic variants rs231775 and rs3087243 of the CTLA4 gene are not associated with alopecia areata in the Mexican population analyzed.
September 2016 in “Journal of dermatological science” This study identified TSC2 as an important regulator of hair follicle morphogenesis and patterning, with Tsc2cKO mice showing altered hair patterns and frequencies compared to controls.
4 citations
,
July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
29 citations
,
January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
2 citations
,
March 2010 in “Acta Biochimica Polonica” This study observed that conjugates of the anticancer drug raltitrexed with dextran and albumin were more cytotoxic than the free drug at high concentrations, altering cell cycle effects.
30 citations
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February 2017 in “Histochemistry and Cell Biology” This study found that applying TPA to mice accelerated hair follicle regeneration by activating Akt and Wnt/ß-catenin signaling pathways, involving hair follicle stem cell proliferation.
28 citations
,
July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
10 citations
,
September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
88 citations
,
August 2019 in “Nature communications” In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.
5 citations
,
January 2018 This study optimized a screening assay to identify molecules that inhibit or enhance TRPM5 ion channel activity, which may have implications for treating dysfunctions linked to cardiac arrhythmias and diabetes.
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.
February 2022 in “Research Square (Research Square)” This study found that high TSPEAR expression in colorectal cancer was associated with poor prognosis and correlated with various tumor and immune-related factors.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
27 citations
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October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
February 2009 in “Journal of The American Academy of Dermatology” Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
September 2025 in “Animals” This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.