65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
25 citations
,
January 2014 in “Annals of Dermatology” Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
January 2024 in “Animals” In this study, researchers found that circERCC6, a circular RNA identified in cashmere goat hair follicles, helps activate secondary hair follicle stem cells, with its role dependent on specific m6A modifications that interact with miR-412-3p to regulate BNC2 expression.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” This study reported that IGF2BP2 rs1470579 and IGFBP3 rs2854744 may increase the risk of polycystic ovary syndrome in a Southeastern Iranian population.
April 2026 in “Frontiers in Cell and Developmental Biology” This study found that CD200-negative human hair follicle bulge cells have a higher hair-regenerative capability compared to CD200-positive cells, suggesting that reduced CD200 expression may enhance hair regeneration, providing insights for improving bulge cell-based hair restoration techniques.
5 citations
,
November 2005 in “Journal of Investigative Dermatology”
5 citations
,
May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
May 2024 in “Biochemical pharmacology” This study found that targeting CISD1 with the compound NL-1 reduced mitochondrial dysfunction and reactive oxygen species accumulation, protecting against cisplatin-induced hearing loss in cell models and mice, without affecting cisplatin's cancer-fighting effectiveness.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
64 citations
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March 2004 in “Journal of Clinical Investigation” This study found that inhibiting the enzyme ornithine decarboxylase (ODC) prevented UVB-induced basal cell carcinomas in a mouse model, suggesting ODC is a potential target for chemoprevention strategies.
January 2019 in “Publisher” This study found that human basal cell and squamous cell carcinomas have distinct gene expression patterns, with specific up-regulation of zinc finger encoding genes in basal cell carcinoma.
This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.
August 2025 in “ChemPhotoChem” This study demonstrated that CD anisotropy effectively distinguishes between two polymorphs of finasteride with nearly identical electronic circular dichroism spectra, using imaging and simulated spectra to uncover unique signatures that traditional methods miss.
7 citations
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May 2021 in “EBioMedicine” This study observed that aberrant DNA methylation in murine and human cutaneous squamous cell carcinoma likely contributes to the silencing of tumor suppressor genes, notably affecting the FILIP1L gene.
April 2018 in “Journal of Investigative Dermatology” In this study using a transgenic mouse model, Id2 overexpression in hair follicle stem cells prolonged quiescence by affecting gene expression, partly independent from BMP signaling.
314 citations
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April 2010 in “Developmental Cell” This study found that in mice, inactivating beta-catenin in the dermal papilla reduces hair follicle progenitor proliferation and disrupts the hair cycle.
21 citations
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September 2010 in “Cancer Prevention Research” This study suggests that IGFBP-2 may play a role in basal cell carcinoma development by mediating epidermal progenitor cell expansion in hair follicles with activated Shh signaling.
This study investigated dual TCR Treg cells in mouse tissues, revealing a high proportion and diverse pairing patterns compared to single TCR Tregs, providing insights into their origins and characteristics across different tissue locations.
87 citations
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March 2007 in “Biological Chemistry” In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.
30 citations
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October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
3 citations
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January 2017 in “Acta Dermato Venereologica” This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.
9 citations
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February 2001 in “Journal of Dermatological Science” This study found that the expressions of CDK inhibitors p21waf1/cip1 and p27kip1 were higher during the anagen phase compared to telogen, suggesting a role in follicular epithelial cell differentiation.