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.
1 citations
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February 2009 in “Journal of Investigative Dermatology” This study found that VEGF-deficient keratinocytes can form tumors using different aneuploidy and signaling patterns, highlighting VEGF's role beyond angiogenesis in tumor cell growth and survival.
September 2015 in “Fluids and Barriers of the CNS” This study developed simulated skull models and a method to assess programming tool movements, selecting three models as most clinically relevant for hydrocephalus shunt valve programming.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” This case report discusses a patient with VHL-associated paraganglioma, highlighting the importance of genetic testing and monitoring in those with VHL disease, due to high mutation penetrance and associated risks.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that anti-Ku-positive patients exhibit heterogeneous muscle features, primarily showing a myositis pattern with necrotizing fibers and vacuolar changes, and suggests autophagy may play a significant role in their pathogenesis.
3 citations
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April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
79 citations
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October 1998 in “Genomics” This study found that the mK6alpha and mK6beta genes in mice are regulated differently at the mRNA level, with implications for understanding K6 gene evolution and function in mammals.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
August 2025 in “Journal of Ayurveda and Integrated Medical Sciences” This review explores the Ayurvedic perspective on hair loss, specifically Khalitya, by aligning its traditional pathogenesis with contemporary understanding of alopecia's causes, suggesting an integrative approach combining Ayurvedic and modern treatments could enhance management and provide personalized solutions for hair loss.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study concluded that KLF4 is a crucial regulator of hair follicle stem cell quiescence and may work by interacting with multiple transcription factors to control related genes.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.
This study found that selective deletion of PIKFyve kinase using a PF4 promoter in mice led to defective platelet lysosome biogenesis and a prothrombotic effect, with unexpected macrophage infiltration in multiple organs.
101 citations
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August 2001 in “The Journal of Cell Biology” This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.
7 citations
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April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
7 citations
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February 2015 in “Journal of comparative pathology” This study observed that NSG-hu-BLT mice developed graft-versus-host disease characterized by CD8+ T lymphocyte-related cell death in the skin and liver, which may affect their utility in other research areas.
1 citations
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April 2011 in “Clinical Kidney Journal” This case report describes a 70-year-old kidney transplant recipient who developed a keratoacanthoma near an arteriovenous fistula after returning to hemodialysis and stopping immunosuppression.
1 citations
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August 1983 in “PubMed” This study reported that VCP combination chemotherapy achieved a complete response in 53% of advanced non-Hodgkin's lymphoma patients, although more intensive treatment may be needed for improved outcomes.
2 citations
,
November 2018 in “JAAD case reports” This case report describes an inflammatory skin reaction linked to kava kava ingestion, with the patient's condition resolving after treatment with oral prednisone and topical hydrocortisone.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
3 citations
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January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
115 citations
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December 2001 in “Endocrinology” This study found that restoring vitamin D receptor expression specifically in the keratinocytes of VDR null mice prevented alopecia and enhanced hair follicle response during anagen initiation.
57 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the vitamin D receptor is crucial for initiating the postnatal hair follicular cycle in mice, preventing alopecia associated with its inactivation.
41 citations
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June 2007 in “British Journal of Dermatology” This study found that men with Kennedy disease have a significantly lower risk of androgenetic alopecia, likely due to androgen receptor gene alterations from the disease's polyglutamine expansion.
9 citations
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February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
August 2001 in “The Journal of Cell Biology” In this study, the researchers identified a third keratin 6 gene in mice and developed a double knockout model that could aid in hair growth research.
2 citations
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September 2020 in “Biomedical materials” This study found that recombinant human hair keratin proteins K31 and K81 show greater potential for inducing skin cell differentiation compared to natural keratin coatings.
14 citations
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June 1989 in “Journal of dermatology” This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.
5 citations
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February 2010 in “Drug development and industrial pharmacy” This study found that vesicles formed with behenyltrimethylammonium chloride, stearic acid, and hinokitiol significantly improved skin permeation of hinokitiol in vitro, which may aid in hair growth promotion.