January 2026 in “Biomolecules” This review suggests that the TSC22D family genes may influence metabolism and cancer, potentially serving as a therapeutic target for conditions like diabetes, obesity, and certain tumors, depending on the tumor environment.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
9 citations
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November 2013 in “Journal of Investigative Dermatology” This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.
211 citations
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February 1994 in “Proceedings of the National Academy of Sciences” This study found that overexpression of parathyroid hormone-related peptide in transgenic mice skin disrupted normal hair follicle development, suggesting a role for the peptide in the early stages of follicle formation.
5 citations
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October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
87 citations
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March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
18 citations
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September 2003 in “International Journal of Cancer” This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.
1 citations
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May 2015 in “Experimental Dermatology” This study found that constitutive activation of Stat3 in transgenic mice led to impaired hair growth and structural disorganization due to aberrant regulation of hair follicle and cytoskeletal genes.
September 1997 in “Clinical and Experimental Dermatology” 15 citations
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January 1991 in “Mammalian Genome”
August 2013 in “Nature Reviews Drug Discovery” New cancer treatments show promise in reducing tumor growth and improving skin regeneration in mice.
April 2019 in “Radiotherapy and oncology” HPV infection is linked to better survival in advanced anal cancer, higher radiation doses improve survival, especially in HPV-negative patients, and prostaglandin E₂ pretreatment can protect mouse hair follicles from radiation damage.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
June 2024 in “British Journal of Dermatology” In this case study, a 46-year-old post-transplant woman with poorly controlled diabetes exhibited a rare acquired form of epidermodysplasia verruciformis associated with HPV-49, marked by unique histological findings that distinguishing it from trichodysplasia spinulosa.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
21 citations
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February 2006 in “Clinical Cancer Research” This commentary discusses how microphthalmic-associated transcription factor levels in circulating tumor cells correlate with melanoma progression and suggests the factor may be up-regulated in vivo, but it reports no new clinical results.
16 citations
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May 2017 in “Journal of Clinical Ultrasound” This report describes the sonographic characteristics of a proliferating trichilemmal tumor in the subungual region, identifying it as a heterogeneous mass with echogenic foci, potentially representing keratin and cholesterol.
3 citations
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January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
June 2008 in “The Knowledge Bank (The Ohio State University)” This study found that deleting Smad2 and Smad3 in murine skin leads to severe skin abnormalities and cancerous lesions, similar to but more severe than those seen in Smad4 mutants, indicating the critical role of TGF-β signaling in skin development.
48 citations
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April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.
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.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
13 citations
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November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
This study found that inhibiting AP-1 transcription factors in mice causes squamous tumors to transform into sebaceous tumors and regulates tumor cell lineage.
January 2024 in “Wiadomości Lekarskie” In this study, researchers examined a patient with ZMYM2::FGFR1 fusion-positive leukemia, finding that Pemigatinib showed efficacy, while Ponatinib resistance was linked to a specific FGFR1 mutation. Other FGFR inhibitors demonstrated high effectiveness in ex vivo assays.
6 citations
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January 2004 in “DNA Research” This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.
66 citations
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December 2013 in “Nature Cell Biology” This study found that quiescence in hair follicle stem cells acts as a tumor suppression mechanism for cutaneous squamous cell carcinoma, with Pten activity necessary to maintain this state.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.