5 citations
,
December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.
This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.
4 citations
,
May 2025 in “Stem Cell Research & Therapy” This review explores the potential of extracellular vesicle therapy as a novel strategy to delay intervertebral disc degeneration and enhance tissue repair, by modulating key pathogenic mechanisms, with a focus on the molecular components and bioengineering modifications of extracellular vesicles.
8 citations
,
September 2016 in “Journal of Investigative Dermatology” In this study, Flii overexpression in mice enhanced fingertip regeneration and nail formation after both distal and proximal amputations, suggesting a role in digit and hair follicle regeneration possibly involving Wnt signaling.
January 1994 in “Nippon Ronen Igakkai Zasshi Japanese Journal of Geriatrics” In this study, both VEPA and ML-Y1 treatment regimens for older patients with non-Hodgkin's lymphoma showed similar response and survival rates, but neither was sufficient, indicating the need for a more effective approach.
13 citations
,
February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
5 citations
,
October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
56 citations
,
November 2012 in “Endocrinology” This study found that the absence of vitamin D receptor signaling in mice impairs the inflammatory response to skin injury, particularly affecting macrophage recruitment and granulation tissue formation.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
18 citations
,
November 2016 in “Neuromuscular Disorders” This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” The document concludes that various skin conditions have specific characteristics and treatments, and highlights the importance of vitamin D in managing these dermatological issues.
234 citations
,
April 2000 in “Gene” This review discusses the expression patterns and biochemical roles of Msx and Dlx genes during development but does not present new research findings.
53 citations
,
May 2010 in “Journal of Cellular Physiology” This study found that mice lacking the Vitamin D receptor showed disrupted hair follicle cycling, which was partially restored with hedgehog signaling pathway activation, suggesting a role for this pathway in follicle regulation independent of vitamin D.
3 citations
,
July 2020 in “Frontiers in Cell and Developmental Biology” This study found that the purified compound VB1 from Vitex negundo seeds may reduce UVA-induced skin aging by targeting MAPK1 and demonstrated its potential in mice.
45 citations
,
July 2025 in “Journal of Medicinal Chemistry” This article discusses the development and clinical progress of PROTAC technology, particularly focusing on the New Drug Application for vepdegestrant, an estrogen receptor-targeting PROTAC, marking significant advancements in targeted protein degradation therapies.
10 citations
,
June 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the vitamin D receptor plays a crucial role in promoting differentiation and protecting against UVB-induced DNA damage in murine melanocytes, suggesting potential implications for melanoma progression.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
2 citations
,
May 2025 in “IntechOpen eBooks” This article highlights that early and high-dose corticosteroid therapy, along with immunosuppressive agents, is crucial for managing Vogt-Koyanagi-Harada disease, and emerging biological therapies may benefit refractory cases.
1 citations
,
September 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that stress-induced inactivation of the enzyme Dicer in melanocytes can cause premature hair greying by preventing proper melanocyte placement and melanin transfer in mice, suggesting the Dicer-miR92b-ItgaV pathway as an important link between stress and grey hair.
February 2023 in “Indian Journal of Postgraduate Dermatology” This article outlines opportunities for academic growth provided by the Indian Association of Dermatologists, Venereologists, and Leprologists, reporting no new research findings.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
39 citations
,
January 2008 in “World Journal of Gastroenterology” This report documents the first known case of acute inflammatory demyelinating polyneuropathy potentially linked to pegylated interferon-alpha 2a in a woman undergoing treatment for chronic hepatitis C.
December 2023 in “Clinical, cosmetic and investigational dermatology” This study found that specific dermoscopic signs, such as diameter diversity of leukotrichia and Pohl-Pinkus constrictions, were associated with progressive vitiligo, and early-stage melanin synthesis was impaired in vitiligo-associated leukotrichia.
November 2025 in “Journal of Investigative Dermatology”
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
October 2023 in “Journal of Integrative Medicine and Research” This case report describes a patient with lupus nephritis coexisting with discoid lupus erythematosus and vitiligo, noting improvement in proteinuria and DLE lesions following treatment, while vitiligo lesions persisted.
20 citations
,
December 2020 in “Frontiers in Immunology” This study found that certain T cell-associated genes were upregulated in dogs with Vogt-Koyanagi-Harada syndrome and vitiligo, suggesting a shared immunopathogenesis with humans.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
1 citations
,
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that skin-resident and recruited γδ T cells play a crucial role in an early wound healing response following cutaneous vaccinia virus infection, rather than in controlling virus replication.