December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
January 2024 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers explored various aspects of the TRPV3 ion channel, including its novel mechanosensitivity to shear stress, and identified novel agonists while investigating how repeated stimulation affects TRPV3 activity, but found no evidence of GPCRs sensitizing the channel.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, Mononuclear Cells provided site-specific protection against chemotherapy-induced alopecia in rats treated with Ara-C, but not with CTX or VP-16, while PRP showed no protective effect.
January 2025 in “Journal of Bioresource Management” This study found that inhibiting the ATR kinase with VE-822 impairs DNA repair capability in quiescent human keratinocytes exposed to solar-simulated UV radiation, suggesting ATR's critical role in facilitating effective DNA damage repair and cellular recovery under UV stress conditions.
9 citations
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July 2013 in “Clinical Neuroradiology” A man developed a rare blood vessel connection on his scalp after hair transplants, which was successfully treated with surgery.
January 2023 in “Mansoura Medical Journal” This study suggests that increased levels of ischemia-modified albumin, indicating oxidative stress, are associated with greater severity of acne vulgaris.
1 citations
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May 2021 in “Mayo Clinic Proceedings” This medical case report describes a 69-year-old man's diagnosis and management of ANCA-associated vasculitis leading to rapidly progressive glomerulonephritis, ultimately treated with glucocorticoids and rituximab.
January 2026 in “Pediatrics International” This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.
19 citations
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May 2014 in “Molecules” This study found that the methanolic heartwood extract of Avicennia marina significantly inhibits 5α-reductase type 1, reducing 5α-DHT production by 52% in a cell-based assay with human hair dermal papilla cells.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.
April 2023 in “Neurology” This study examined treatments for emesis in young Alexander disease patients, finding that 95% responded positively to valproic acid, which was more effective than anti-reflux medications or cyproheptadine, though some adverse effects require monitoring.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
March 2026 in “Clinical Cosmetic and Investigational Dermatology” In this case study, treatment with the selective JAK1 inhibitor upadacitinib significantly improved symptoms in a patient with refractory alopecia areata, vitiligo, ankylosing spondylitis, and allergic asthma-nasal syndrome, though a transient liver function abnormality was noted.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that engineered high-affinity soluble CD200R agonists, including ARQ-234, showed superior efficacy in reducing immune responses in various preclinical models of inflammatory conditions, suggesting potential as a therapeutic for atopic dermatitis and other related diseases.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
40 citations
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March 2019 in “Nature Communications” This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.
July 2025 in “Journal of Investigative Dermatology” DACC-based dressings are more effective than silver-based ones for treating chronic wounds with antimicrobial resistance.
104 citations
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May 2003 in “Endocrinology” This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
2 citations
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September 2022 in “Annals of Oncology” This study observed that MIRV improved gastrointestinal symptoms and other quality of life measures in patients with platinum-resistant ovarian cancer compared to chemotherapy.
10 citations
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September 2021 in “The FASEB Journal” This study found that ACKR2 plays a crucial role in reducing inflammatory skin fibrosis and promoting inflammation resolution through IFN‐β production, limiting tissue scarring.
4 citations
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November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
7 citations
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April 2021 in “Journal of The American Academy of Dermatology” This study found that the implementation of the SAVe teledermatology model increased access to dermatologic care during COVID-19, reducing referral wait times significantly compared to in-person visits.
1 citations
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January 2017 in “The Annals of Clinical and Analytical Medicine” In this study, researchers found no significant association between VDR gene polymorphisms and the susceptibility to alopecia areata, suggesting that these genetic variations may not play a role in the disease's development.
28 citations
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March 1986 in “The American journal of medicine” This study presented two cases of chronic hypervitaminosis A in adults, highlighting the first reported instance of hepatic cirrhosis due to long-term beef liver consumption.
September 1997 in “Journal of the European Academy of Dermatology and Venereology” People with acne have more CD4+ immune cells in their skin than healthy people.
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.