23 citations
,
March 2019 in “Gene” In this study, researchers found that the evolutionary and structural features of the oFGF5 gene in sheep may influence hair follicle development and hair growth regulation.
117 citations
,
April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
April 2016 in “Journal of Investigative Dermatology” This study found that increasing En1 expression in mouse epidermis can convert cutaneous appendages to eccrine sweat glands, suggesting a role for En1 in eccrine gland development.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
March 2026 in “Folia Histochemica et Cytobiologica” This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that Elf5 plays a crucial role in regulating stem cell processes involved in skin and hair follicle development and regeneration, impacting cell proliferation and differentiation.
1 citations
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May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
January 2013 in “edoc (University of Basel)” This study found that TRF1 plays a crucial role in maintaining pluripotency and stem cell compartments, but it is not a suitable in vivo telomere length marker.
June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.
50 citations
,
June 1993 in “European journal of biochemistry” This article reviews the regulation of gene expression and assembly of intermediate filaments but presents no new findings.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
189 citations
,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.
125 citations
,
August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
September 2024 in “Advanced Biomedical Research” In this study, chick embryo extract enhanced neuronal differentiation and trophic factor expression in rat hair follicle stem cells, suggesting potential improvements for stem cell therapies in neurodegenerative diseases.
November 2024 in “Journal of Investigative Dermatology” This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.
20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
1 citations
,
September 2022 in “European Journal of Dermatology” This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.
March 2024 in “International journal of molecular sciences” In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
52 citations
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April 2013 in “Developmental Cell” This study found that Brg1, a chromatin-remodeling enzyme, plays a critical role in hair regeneration and early epidermal repair by regulating bulge stem cells through a Brg1-Shh interaction.
28 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” 22 citations
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March 2019 in “The Journal of Cell Biology” This study identified that the Wave complex proteins ABI1 and Wave2 play a crucial role in regulating epidermal shape and growth during skin development, notably influencing SOX9 expression and Wnt signaling pathways.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
11 citations
,
August 2019 in “Journal of Molecular Histology” This study found that upregulation of NFIC may enhance proliferation and osteogenic/cementogenic differentiation in rat dental follicle cells.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
83 citations
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October 2016 in “Stem Cells and Development” This study found that epidermal growth factor significantly enhances the proliferation of hair follicle-derived mesenchymal stem cells through the EGFR/ERK and AKT pathways, without involving the STAT3 pathway.