2 citations
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August 2022 in “Frontiers in Endocrinology” This study reported that myeloid-specific Wnt production did not affect wound healing or blood vessel density in mice but influenced endovascular progenitor cell kinetics during angiogenesis.
1 citations
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January 2024 in “Fibrosis” This review examines advancements in hydrogel formulations aimed at preventing dermal fibrosis and promoting scarless wound healing, highlighting their role in regulating myofibroblast differentiation and controlling the wound microenvironment.
September 2025 in “PubMed” This review discusses recent advances in hair regeneration strategies, including mechanical stimulation and complementary therapies like MSC transplantation and platelet-rich plasma, and reports no new clinical results.
25 citations
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April 2021 in “The EMBO Journal” This review discusses the role of hair follicle stem cells as active signaling centers in skin homeostasis, highlighting recent advancements and reporting no new clinical results.
14 citations
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July 2022 in “Nutrients” This review discusses new research on the role of retinoids in skin and hair health and reports no clinical results.
11 citations
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September 2024 in “Journal of the European Academy of Dermatology and Venereology” This review explores the shared pathogenesis of alopecia areata and vitiligo and compares treatment responses, noting that hair regrowth in alopecia areata occurs more rapidly than skin re-pigmentation in vitiligo, possibly due to differences in stem cell biology and treatment effects on melanocytes.
7 citations
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May 2022 in “Frontiers in Cell and Developmental Biology” This review discusses the molecular mechanisms driving hair follicle degeneration in skin aging and emphasizes the role of the tissue microenvironment on stem cell function, but reports no new research findings.
January 2025 in “Medical Research Archives” This review highlights the multifaceted roles of hair follicles in skin health, emphasizing their contribution to skin tumorigenesis, homeostasis, and wound healing, and how dysregulation in associated pathways like Wnt, Hedgehog, and Notch may contribute to skin cancer development.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
7 citations
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July 2005 in “Journal of Dermatological Science” This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study identified several genetic variants associated with cattle hair coat length, which may help breed more heat-tolerant animals by facilitating efficient heat loss.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
5 citations
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June 2008 in “British Journal of Dermatology”
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.