41 citations
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June 2006 in “Journal of Investigative Dermatology” This study identified three genes with significantly higher expression in androgen-sensitive beard dermal papilla cells compared to androgen-insensitive scalp cells, suggesting potential novel signaling pathways in hair follicles.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
1 citations
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September 2022 in “Sudan Journal of Medical Sciences” This molecular docking study reported that danoprevir, remdesivir, and saridegib exhibit stronger binding affinities to the main protease of SARS-CoV-2 than the control, suggesting their potential as inhibitors of the virus's replication process.
134 citations
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February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
11 citations
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November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
1 citations
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April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
8 citations
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July 2018 in “Analytical sciences” This study reported that derivatization with 5-butylpicolinic acid improved the sensitivity for detecting testosterone and DHT in saliva using LC-ESI-MS/MS, with minimal interference from the saliva matrix.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
11 citations
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June 2023 in “Journal of Cellular Biochemistry” This study suggests that BRAF inhibitors, particularly Encorafenib and Dabrafenib, may have potential applications in wound healing by targeting specific proteins involved in the healing process in murine models.
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.
2 citations
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July 2024 in “International Journal of Molecular Sciences” In this study, researchers found that knocking down the transcription factor Csdc2 inhibited the proliferation of dermal papilla cells in cashmere goats, and identified its regulatory relationship with the gene Robo2, providing insights into the genetic mechanisms influencing cashmere fiber growth.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
June 2008 in “Alcoholism Clinical and Experimental Research” This study discusses how chronic ethanol exposure and withdrawal affect GABAA receptor subunit expression and function, finding that some changes can be selectively blocked by certain drugs like diazepam and finasteride.
1 citations
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January 2024 in “Wiadomości Lekarskie” This study evaluated a new computer-aided detection system for identifying Breast Arterial Calcification in mammograms, achieving 70% accuracy, but highlighted the need for a larger dataset to explore its relationship with cardiovascular diseases.
May 2021 in “The FASEB Journal” This study presents the crystal structure of human SRD5A2 with finasteride and reveals insights into its enzyme catalysis and inhibition mechanisms, which may inform drug development.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
7 citations
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January 2021 in “Frontiers in genetics” This study suggests an association between DNA methylation changes in hair follicles and inherited color dilution in Rex rabbits, contributing to a deeper understanding of epigenetic influences on rabbit pigmentation.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
4 citations
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November 2020 in “Acta Dermato Venereologica” In this study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.
January 2024 in “Clinical, cosmetic and investigational dermatology” In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
January 2024 in “Journal of camel practice and research/Journal of Camel Practice and Research” This study analyzed the KRTAP7 gene in four Indian camel breeds and found that the gene sequences were identical across breeds, with no observed SNPs in coding or non-coding regions.
50 citations
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February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
9 citations
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April 1999 in “Mammalian Genome” This study reports that the acidic and basic keratin gene clusters in dogs are located on chromosomes CFA9 and CFA27, respectively, similar to genetic arrangements in humans and mice.
78 citations
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October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.