1 citations
,
February 2016 in “Cell Transplantation” In this study, researchers found that hair follicles and dermal fibroblasts, including dermal papilla cells, supported sustained hair growth in transplanted murine models, with RNA-seq analysis revealing active signaling pathways and gene expression patterns.
6 citations
,
May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
15 citations
,
March 2022 in “Frontiers in Bioengineering and Biotechnology” This study found that fucoidan significantly inhibited lung cancer cell phenotypes while sparing normal cells and altered gene expression, suggesting its potential for lung cancer therapy.
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.
February 2024 in “BMC genomics” This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
32 citations
,
November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study highlighted the significance of integrating single-cell RNA sequencing with spatial transcriptomics for improving cell-type identification in human skin, emphasizing the need for a comprehensive cell atlas.
October 2018 in “InTech eBooks” This research suggests that mouse mutants and genomics can help study hair biology and epithelial differentiation by focusing on the role of the Foxn1 gene.
21 citations
,
January 1995 in “Molecular Biology Reports” This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.
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.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
48 citations
,
June 2020 in “Current Rheumatology Reports” This review explores the diverse roles and heterogeneity of fibroblasts across different organs, highlighting their potential involvement in both normal tissue functioning and fibrotic diseases, but reports no new experimental results.
2 citations
,
March 2021 in “Andrologia” In this study, mesenchymal stem cell therapy improved erectile function in a rat model of diabetes-associated erectile dysfunction, and identified 15 hub genes potentially involved in the condition's development.
55 citations
,
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.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
This study found that chemically induced skin tumors in mice predominantly originated from Lgr6 + and/or Lrig1 + stem cells of the upper hair follicle rather than from other stem cell populations.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
18 citations
,
May 2023 in “Science Advances” In this study, transiently activating the sonic hedgehog signaling pathway in chickens transformed reticulate scales on the feet into feathers comparable to body feathers, without ongoing treatment, suggesting this pathway affects the diversity of bird skin appendages.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed significant differences in the skin microbiome between hidradenitis suppurativa patients and healthy individuals, notably with decreased β-diversity and a distinct abundance of certain bacteria in affected skin.
April 2017 in “Journal of Investigative Dermatology” This study identified the dermal sheath as a key component of the hair follicle niche, essential for outer root sheath regression during the hair cycle, highlighting its importance in hair follicle support and regulation.
November 2025 in “American Journal of Case Reports” This case report describes a child with acrodermatitis enteropathica and normal zinc levels who developed Kaposi's varicelliform eruption, highlighting the role of novel SLC39A4 variants and the importance of early zinc supplementation and antiviral prophylaxis.
7 citations
,
December 2007 in “Poultry Science” In this study, beta-catenin expression was found to be significant in embryonic goose skin during early feather bud development, with patterns similar to Shh expression, suggesting its importance in normal development.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study using a mouse model, researchers found that expressing Lef1 in dermal fibroblasts may enhance skin regeneration without affecting normal development.
11 citations
,
January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
In this study, researchers used transcriptome sequencing to identify 1543 differentially expressed genes between cashmere and normal goats, implicating several signaling pathways and key regulators in the distinct gene expression profiles linked to cashmere fiber production, which advances understanding of cashmere goat genetics.
24 citations
,
July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
48 citations
,
August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
5 citations
,
January 2021 in “iScience” Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.