8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
96 citations
,
September 1996 in “PubMed” This study demonstrated that murine monoclonal antibodies can reveal specific patterns of desmosomal cadherin expression, Dsc1 and Dsc3, in human tissues and cultured cells using immunofluorescence microscopy.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” This study developed a pemphigus model in mice showing that anti-Desmocollin 3 and anti-Desmoglein 3 antibodies lead to more severe disease, suggesting diverse antigens contribute to varying human pemphigus phenotypes.
1 citations
,
August 2019 In this study, researchers developed a pemphigus mouse model expressing anti-Desmocollin 3 antibodies and found it mimicked atypical pemphigus with distinct pathological features compared to the standard Desmoglein 3 model.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Dsc3 function in the epidermis impaired cell adhesion, leading to blistering and hair loss, which suggests a potential cause of PV-like skin diseases according to this study.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
26 citations
,
October 2016 in “Biomolecules & Therapeutics” This study found that 3-Deoxysappanchalcone may stimulate hair growth in mice by promoting proliferation of hair follicle dermal papilla cells through WNT/β-catenin and STAT signaling modulation.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
108 citations
,
July 2002 in “Molecular and cellular biology” This study found that overexpressing Dsg3 in the suprabasal epidermis of transgenic mice resulted in flaking skin and abnormal hair growth, supporting Dsg3's role in regulating epidermal differentiation.
11 citations
,
December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
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.
June 2019 in “Pediatric Dermatology” This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.
116 citations
,
September 2020 in “Nature Communications” This study reports previously unrecognized cellular complexity in growing mouse incisors, suggesting species-specific differences in cell dynamics between mouse and human teeth related to growth and differentiation.
100 citations
,
November 2021 in “Cell Research” This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.
92 citations
,
August 2017 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that newborn mouse skin organoids can robustly grow hair in vivo, while adult organoids require specific interventions to restore their hair-forming ability.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
70 citations
,
January 2014 in “International review of cell and molecular biology” This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.
54 citations
,
October 2024 in “Nature Communications” In this study, researchers developed a method to control the valence states of Mo in nanozymes, optimizing their activity for ROS-related therapies, particularly acute kidney injury treatment, and enabling real-time monitoring with photoacoustic imaging.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
22 citations
,
April 2020 in “Scientific reports” This study explored gene expression in Changthangi goats and found that higher expression of keratin-related genes and specific signaling pathways may play a role in the development of Pashmina fiber.
20 citations
,
October 2021 in “PLoS ONE” This study found significant differences in gene expression between newborn and adult skin, with infant skin notably increasing processes related to ECM organization, cell adhesion, and collagen fibril organization.
19 citations
,
May 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the type 3 IP(3) receptor in their hair follicles experienced repetitive hair loss and regrowth, indicating disrupted hair-cycle regulation potentially linked to specific signaling pathways.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
9 citations
,
August 2017 in “Photochemistry and Photobiology” This study found that isolated red light may serve as an alternative for photo-immunotherapy without additional photosensitizers, as it did not reduce keratinocyte differentiation markers or increase photo-oxidative damage, unlike treatment with IL-4 or UVA1/blue light.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.