December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
September 2025 in “Arthritis Research & Therapy” In this study, researchers found that the compound BMS-470539 induced a senescence-like state in fibroblasts from systemic sclerosis patients, reducing fibrosis-associated markers in vitro and decreasing skin thickness in a mouse model of skin fibrosis, suggesting a novel therapeutic strategy for managing fibroblast-driven diseases.
April 2025 in “International Journal of Cosmetic Science” This study found that using 1,4-butylenediamine bismaleimide for hair perming through thiol-Michael click chemistry offers comparable efficiency to conventional oxidative methods, with enhanced durability and reduced damage to hair fibres, preserving mechanical, color, and surface properties.
In this study, the researchers identified that perturbing both AKT1 and MDM2 significantly reduces epithelial-mesenchymal transition in melanoma, proposing Cialis and Finasteride as potential therapeutic candidates with favorable properties for managing aggressive melanoma.
January 2026 in “Dermatologic Therapy” This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.
15 citations
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February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
14 citations
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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.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
3 citations
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July 2023 in “Cells” This study found that topical application of recombinant human MG53 protein mitigated nitrogen mustard-induced skin injuries in mice by preserving epidermal integrity and hair follicle structure.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
7 citations
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February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
12 citations
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April 2023 in “Molecular Pharmaceutics” This study demonstrated that a microarray patch can deliver antibodies in a controlled and prolonged manner, maintaining their functionality after manufacturing and heat exposure, with successful pharmacokinetic proof-of-concept in rats.
16 citations
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April 2021 in “Plant Signaling & Behavior” This study found that in Arabidopsis, the MYB30-EIN3 module plays a role in adapting root hair development to phosphate deficiency, potentially enhancing phosphate uptake from soil.
64 citations
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March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
12 citations
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August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
July 2020 in “European urology open science” Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
May 2015 in “Journal of The American Academy of Dermatology” There's a growing resistance to the antibiotic mupirocin in children's skin infections caused by MRSA in New York.
November 2022 in “Research Square (Research Square)” This study identified key genes and pathways involved in the growth and development of forest musk deer hair follicles, providing insights into molecular regulation and laying groundwork for future research on related diseases.
57 citations
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August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
1 citations
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April 2022 in “Rheumatology” This case study describes a 4-year-old boy with juvenile dermatomyositis whose severe subcutaneous edema resisted conventional treatment, necessitating aggressive immunosuppression for disease control.
13 citations
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June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
65 citations
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September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
76 citations
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January 1998 in “Mammalian Genome” November 2025 in “The Journal of Immunology” In this study, researchers observed elevated levels of epidermal γδ T cells, keratinocytes, and an upregulation of the BST2 gene among immune cells in C3H/HeJ mice with alopecia areata, suggesting a potential role in disease pathogenesis.
22 citations
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March 1994 in “Journal of Heredity” In this study, researchers identified a mutation in mice that causes hair loss and immune system issues, located on chromosome 18.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
10 citations
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August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.