April 2023 in “Journal of Investigative Dermatology” This study found that overexpression of the lncRNA AL136131.3 may inhibit hair shaft growth and promote hair follicle apoptosis in androgenetic alopecia by influencing key metabolic pathways.
40 citations
,
November 1966 in “Archives of Dermatology” This study found that trichorrhexis nodosa, a cause of unexplained hair loss, is often linked to mechanical trauma rather than a metabolic defect.
2 citations
,
January 2017 in “Journal of Biotechnology Research Center” This study found that hair dyes significantly affect DNA sequence analysis, with the organic extraction method performing better on hair shafts and the prepFiler kit yielding higher success for follicle-included samples.
2 citations
,
April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
5 citations
,
February 2016 in “Genetic Testing and Molecular Biomarkers” This study found that the expression levels of nucleolin, nucleophosmin, and UBTF genes were lower in normal sites compared to hair loss sites in males with alopecia.
June 2025 in “Cell Regeneration” In this study, Dguok deficiency in mice led to premature hair greying due to a loss of melanocyte stem cells and mature melanocytes, with increased oxidative stress and cell death; treatment with an antioxidant mitigated these effects, suggesting DGUOK's importance in hair pigmentation maintenance.
5 citations
,
December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
16 citations
,
January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
3 citations
,
October 2019 in “EMBO molecular medicine” This study reports that the nuclear receptor co-repressor 1 (NCoR1) inhibits cardiac hypertrophy by stabilizing the MEF2 and class II HDACs complex, potentially offering a target for new therapies.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
16 citations
,
January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.
4 citations
,
October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
1 citations
,
October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
138 citations
,
January 2004 in “AIDS” This review discusses the role of mitochondria and evaluates methodologies for assessing mitochondrial function and toxicity, particularly in the context of HIV and antiretroviral treatments, but it reports no new empirical findings.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the deletion of Med1 in dental epithelia causes a shift from dental to hair tissue development, suggesting the importance of Med1 in maintaining tissue-specific lineage.
6 citations
,
August 2007 in “Journal of Surgical Research” In this study, constitutive expression of Del1 in mice did not affect wound healing but was associated with increased hair growth following anagen induction.
57 citations
,
July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
July 2026 in “Journal of Investigative Dermatology” 23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.
56 citations
,
March 2015 in “Journal of Investigative Dermatology” Healthy mitochondria in skin cells are essential for proper hair growth and skin cell interaction in mice.
54 citations
,
July 1967 in “Science” This study found that aged tritiated thymidine breaks down and incorporates into cytoplasmic macromolecules, not DNA, suggesting caution in its use.
91 citations
,
July 2004 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.
297 citations
,
January 2002 in “Development” In this study, repressing β-catenin/Lef1 signalling in mouse epidermis led to progressive hair loss, dermal cysts, and spontaneous skin tumors with sebaceous differentiation, indicating altered keratinocyte differentiation and potential tumourigenic processes.
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.
1 citations
,
May 2024 in “Communications Biology” This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.