4 citations
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February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
4 citations
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April 2021 in “Experimental and Molecular Medicine” This review examines host factors like ACE2 and TMPRSS2 in SARS-CoV-2 infection, exploring how genetic variants and advanced cellular analyses might clarify COVID-19's severity and heterogeneity; it reports no new results.
4 citations
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May 2020 in “Cureus” This case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.
1 citations
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March 2024 in “Signal transduction and targeted therapy” In this review, researchers explored the multifaceted role of NF-κB signaling in various biological processes and diseases, including its interactions with other pathways, and discussed possible therapeutic approaches targeting this pathway for treating conditions like cancer, autoimmune disorders, and COVID-19.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
1 citations
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September 2017 in “Frontiers in Laboratory Medicine” This review discusses recent research on the relationship between gut microflora and depression, highlighting the potential for new insights into the pathogenesis and treatment of major depressive disorder.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This study found that a novel 15% topical minoxidil solution achieved a clinically significant hair regrowth response in 60% of women with female pattern hair loss who did not respond to 5% minoxidil, without increasing adverse events.
1 citations
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April 2016 in “Journal of Investigative Dermatology” This study found that facial sun damage scores from UV photography correlate with skin cancer and melanoma risk factors, suggesting this technology may help identify individuals at higher risk.
December 2025 in “GeroScience” This study found that both genetic and epigenetic factors significantly influence age-related facial skin aging, with lifestyle and environmental factors also playing a substantial role.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
January 2025 in “Cellular and Molecular Biology” This study found that in Liaoning cashmere goats, overexpression of the PIP5K1A gene enhances skin fibroblast proliferation, while interference with this gene reverses melatonin-induced proliferation, and PIP5K1A regulates certain miRNA expressions, suggesting a role in improving cashmere yield and quality.
February 2023 in “Research Square (Research Square)” This case report describes a 16-month-old girl with atypical acrodermatitis enteropathica who showed marked improvement after zinc supplementation despite normal serum zinc levels.
August 2020 in “Egyptian Veterinary Medical Society of Parasitology Journal (EVMSPJ)” In this study, 10.5% of sheep examined in Ismailia, Egypt, were infested with Sarcoptes scabiei, showing specific molecular and skin alterations.
May 2018 in “European Journal of Dermatology” Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
April 2018 in “Journal of Investigative Dermatology” This study found that in obese mice, local antimicrobial activity is reduced due to a loss of adipogenic stem cells and an increase in mature adipocytes, leading to higher susceptibility to skin infections.
April 2017 in “Journal of Investigative Dermatology” This study found that hair follicle matrix progenitors differentiate into various layers asynchronously, with early progenitors forming the companion layer and later progenitors generating the inner root sheath and hair shaft.
April 2017 in “Journal of Investigative Dermatology” This study identified that in mice, sweat gland development is directed by mesenchymal signals that suppress SHH-production, while in humans, this occurs through a BMP spike in embryonic development.
April 2017 in “Journal of Investigative Dermatology” This study found that down-regulation of sonic hedgehog gene expression is a critical early event in chemotherapy-induced tissue damage in hair and feather follicles.
April 2017 in “Journal of Investigative Dermatology” In this pilot study, researchers observed a correlation between clinical severity and histologic severity of lichen planopilaris, suggesting that an immunohistochemical scoring system could aid in grading disease activity.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.
April 2016 in “Journal of Investigative Dermatology” This study found that male pattern baldness was associated with an increased risk of squamous cell carcinoma and basal cell carcinoma, particularly at the scalp.
April 2016 in “Journal of Investigative Dermatology” The researchers reported that SOX4 expression is significantly upregulated in melanoma and its knockdown in cell lines resulted in reduced tumor progression, suggesting potential for targeted therapies.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
March 1998 in “Journal of dermatological science” Protease Nexin-1 is found in human hair growth cells and is affected by male hormones.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
308 citations
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September 2010 in “Nucleic acids research” This study found that induced expression of mir-302 can reprogram human hair follicle cells into induced pluripotent stem cells through a novel epigenetic mechanism involving global demethylation.
244 citations
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September 2008 in “Annual Review of Genomics and Human Genetics” This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.
68 citations
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November 2012 in “Journal of Investigative Dermatology” This study found that PGD2 inhibits hair follicle regeneration in mice through the Gpr44 receptor, suggesting that blocking PGD2 or Gpr44 may enhance skin regeneration after wounds.
62 citations
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June 2015 in “Sexually Transmitted Infections” This study identifies sexual activity as a significant potential transmission route for Trichophyton interdigitale, causing tinea genitalis among travelers to South East Asia.