31 citations
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October 2010 in “BMB Reports” In this study, L-threonate was found to inhibit DHT-induced DKK-1 expression in cultured dermal papilla cells, suggesting it could help prevent androgen-driven balding.
97 citations
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March 2006 in “Journal of Investigative Dermatology” This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
January 2026 in “Annals of Clinical Endocrinology and Metabolism” This narrative review summarizes evidence on NAD⁺ biosynthesis and turnover, highlighting that while NAD⁺ precursors like NR and NMN consistently boost NAD⁺ levels in preclinical and human studies, clinical outcome results remain varied, indicating a need for more standardized human trials.
October 2025 in “Journal of Investigative Dermatology” Hair follicle dermal stem cells help control hair growth timing by regulating signals at the hair germ–dermal papilla interface.
147 citations
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August 2005 in “The Plant Cell” This study identified a key Arabidopsis thaliana gene, TIP1, whose product is involved in S-acylation crucial for normal plant cell growth, particularly affecting root hair development.
April 2018 in “Journal of Investigative Dermatology” This study found that Basonuclin 1 knockdown in human primary keratinocytes significantly reduces cell proliferation and affects migration, indicating its role in coordinating the re-epithelization phase of wound healing.
12 citations
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October 2006 This review discusses the role of matriptase and its inhibitor HAI-1 in epithelial homeostasis and cancer development, highlighting their imbalance's link to cancer progression without presenting new experimental results.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
6 citations
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September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
1 citations
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November 2022 in “Journal of Investigative Dermatology” This study found that ALRN-6924, a clinical-stage dual inhibitor, can selectively protect human scalp hair follicles from paclitaxel-induced toxicity and damage by inducing transient cell cycle arrest in healthy cells without affecting cancer cells, potentially reducing chemotherapy-induced alopecia.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
124 citations
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July 1997 in “Journal of Biological Chemistry” This study found that overexpression of an enzyme in transgenic mice led to distorted polyamine levels, resulting in permanent hair loss and female infertility.
22 citations
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March 2012 in “Molecular Medicine Reports” This study found that DHT treatment led to reduced cell growth, increased cell death, cell cycle arrest, ROS production, and senescence in normal human dermal papilla cells, potentially mediated by altered miRNA expression.
11 citations
,
March 2021 in “Molecular Carcinogenesis” This study found that deleting the transcription factor Twist1 in keratinocytes significantly reduced UVB-induced skin carcinogenesis in mice, suggesting a potential target for preventing cutaneous squamous cell carcinoma.
26 citations
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October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
26 citations
,
October 2007 in “American Journal of Dermatopathology” This study observed that basal cell carcinomas with matrical differentiation may derive from hair follicles, with .-catenin potentially playing a key role in tumor development and differentiation.
July 2017 in “Cancer Research” This study identified a radio-resistant population of Krt15+ stem cells in the mouse small intestine that can initiate tumors, suggesting potential targets for colon cancer therapy.
12 citations
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September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
4 citations
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May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
118 citations
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June 1993 in “Journal of Biological Chemistry” This study found that mouse and human protransglutaminase 3 enzymes require calcium-regulated activation for their role in later stages of cell envelope formation in the epidermis and hair follicle.
January 2026 in “Aging and Disease” This review discusses recent research on the Dickkopf protein family's involvement in non-cancerous diseases and considers their potential as biomarkers and therapeutic targets without presenting new experimental results.
5 citations
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January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.
This study found that inhibiting mTORC2 in glioblastoma cells reduced DNA repair and increased apoptosis, highlighting its potential role in cancer cell survival and DNA damage response.
1 citations
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April 2016 in “Journal of Investigative Dermatology” This study found that NLRP1 in human melanoma cells promotes tumor growth by enhancing inflammasome activation and suppressing caspase-3 activity.
65 citations
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September 2004 in “The American journal of pathology” This study found that overexpressing the BMP inhibitor Noggin in transgenic mice led to a significant loss of nontylotrich hair follicles, suggesting a critical role for BMP signaling in hair follicle morphogenesis and cycling.