January 2024 in “Editora In Vivo eBooks” This study reports a case of dermatophytosis in an 11-month-old spayed female dog, which exhibited alopecia in the neck and ear tip regions, a condition common in tropical and temperate climates and caused by fungi affecting both animals and humans.
41 citations
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July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
1 citations
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January 2023 in “Pediatric Dermatology” This case study of a neonate with ichthyosis and ILVASC demonstrates how an interdisciplinary approach facilitated a timely genetic diagnosis and management of complications.
13 citations
,
April 2024 in “JAAD Case Reports” This review discusses current treatments for discoid lupus erythematosus and highlights anifrolumab as a promising option for difficult cases, but no new clinical results are reported.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
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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May 2025 in “Frontiers in Veterinary Science” This study suggests that recombinant Lumpy Skin Disease Virus strains pose a severe threat to yaks in the Qinghai-Tibet Plateau, causing high mortality and emphasizing the need for targeted control strategies.
1 citations
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May 2019 in “Cytotherapy” This study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.
This study found that CMV infection in a mouse model of allogeneic transplantation was associated with increased allo-reactive T cell expansion and exacerbated graft-versus-host disease, highlighting the need for effective GvHD prophylaxis and treatment.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
73 citations
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April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that the vitamin D-VDR system is crucial for mineral and bone metabolism post-weaning and identified missense mutations in 1alpha-hydroxylase causing type I rickets.
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.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
8 citations
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July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
July 2026 in “Pediatric Allergy and Immunology” 25 citations
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February 2021 in “Diabetes” This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.
166 citations
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February 2005 in “Behavioural brain research” This study found that VDR knockout mice exhibited muscle and motor impairments affecting locomotor behavior, while cognitive functions such as exploration, working memory, and anxiety appeared unaffected.
1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
April 2023 in “Journal of Investigative Dermatology” In this study, researchers developed a mouse model of scarring alopecia and observed significant reductions in CD200R expression in affected skin, potentially linking this signaling pathway to immune attacks on hair follicles and suggesting new treatment targets for scarring hair loss.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
1 citations
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September 2023 in “Life science alliance” In this study, researchers observed that Vdr-knockout mice experience hair cycle arrest during the catagen stage, leading to alopecia, with persistent epithelial strands forming in the hair follicles, indicating Vitamin D receptor's role in regulating hair follicle regression and regeneration.
4 citations
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August 2013 in “Case reports in dermatology” This case report describes a patient in whom vitiligo was induced by diphenylcyclopropenone treatment for alopecia universalis, highlighting the potential overlap of susceptibility genes between the two conditions.
5 citations
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March 2012 in “Journal of Investigative Dermatology” In their mouse study, Oda et al. found that removing the MED1 gene in the skin led to hair loss and changes in epidermal cell differentiation, indicating MED1's significant role in these processes.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
13 citations
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November 2013 in “Journal of Endocrinology/Journal of endocrinology” This study found that the vitamin D receptor, but not its ligand, regulates genes involved in hair cycle progression, suggesting a role in integrating hormone signaling pathways for hair and epidermal functions.
4 citations
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January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reviews the characteristics, differential diagnosis, and management options for papular acantholytic dyskeratosis of the vulva, illustrated by a case of a 21-year-old patient, but reports no new clinical results.
May 2011 in “Journal of Clinical Neuroscience” This article discusses a case of Vogt-Koyanagi-Harada disease, detailing symptoms, diagnostic features, and treatment with corticosteroids, but it reports no new clinical findings.
2 citations
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July 2013 in “Journal of Life Sciences” In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.
5 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This study presents two cases correlating the clinical appearance of adult-onset foveomacular vitelliform dystrophy with optical coherence tomography findings, describing the location of the yellow vitelliform material.