July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
This study found that new methods for isolating human dermal papilla cells were more efficient than traditional methods, maintaining higher levels of specific markers and improving the cells' research potential.
25 citations
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October 2018 in “Journal of The American Academy of Dermatology” This study concluded that erosive pustular dermatosis of the scalp may be a type of spongiotic, pustular superficial folliculitis, sharing similarities with other neutrophilic dermatoses.
71 citations
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November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.
August 2022 in “Tissue Engineering Part A” This study observed that using ex vivo gene therapy to modify skin cells in a pre-graft model improved dermal-epidermal junction adhesion strength and maintained collagen production over time, suggesting a potential treatment approach for recessive dystrophic epidermolysis bullosa skin wounds.
24 citations
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March 2022 in “Stem Cell Research & Therapy” This study found that dendritic epidermal T cells and their exosomes enhance epidermal stem cell proliferation, accelerating wound re-epithelialization in the skin.
November 2024 in “Stem Cell Research & Therapy” A new method improves the isolation of hair follicle cells for better hair growth research.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
2 citations
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June 2021 in “PubMed” In this study, researchers re-evaluated biopsies from elderly patients with erosive pustular dermatosis of the scalp and identified plasma cell and lymphocyte infiltrates as key histological indicators for diagnosis, observing that high-potency topical steroids effectively healed the lesions.
87 citations
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July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
February 2026 in “Pediatric Dermatology”
4 citations
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July 2020 in “Biochemical and Biophysical Research Communications” This study suggests that EDA-A2 induces apoptosis in hair follicles by increasing DKK-1 expression, implicating EDA2R signaling as a potential therapeutic target for androgenetic alopecia.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” This review discusses the increased incidence of dermatological conditions in individuals with Down's syndrome and explores potential links to immunological deficiencies, but reports no new clinical findings.
March 2024 in “EMBO molecular medicine” This study found that the antiviral drug daclatasvir significantly improved fibrosis and quality of life in a mouse model of recessive dystrophic epidermolysis bullosa, suggesting potential for treating this and other fibrotic diseases.
23 citations
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November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
8 citations
,
November 2013 in “Vojnosanitetski pregled” This report discusses two patients with erosive pustular dermatosis of the scalp and highlights that a prompt response to topical steroids supports its diagnosis despite nonspecific histological findings.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
6 citations
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June 2021 in “Developmental biology” This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
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.
April 2023 in “Journal of Investigative Dermatology” This study reports that improvements to the EczemaNet pipeline, incorporating pixel-level segmentation and data augmentation, enhanced the reliability and interpretability of assessing atopic dermatitis severity from digital images.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” This article reviews the diagnosis and management of inherited epidermolysis bullosa and reports no new clinical findings; it emphasizes the importance of clinical and histopathological evaluation.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.