This study found that selective deletion of PIKFyve kinase using a PF4 promoter in mice led to defective platelet lysosome biogenesis and a prothrombotic effect, with unexpected macrophage infiltration in multiple organs.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
This study found that FGF5 alternative spliceosomes inhibit dermal papilla cell proliferation and regulate hair follicle growth-related gene expression, impacting hair follicle development in rabbits.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
April 2012 in “The FASEB Journal” In this study, researchers observed that knocking down the LPA 4 receptor in zebrafish embryos led to vascular and lymph vessel development abnormalities, including edema and decreased heartbeats.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
September 2026 in “Aging Cell” This study found that knocking down SFRP2 in an AGA model improved hair regeneration and reduced cellular dysfunction, suggesting that targeting the SFRP2-FSTL1 axis could be a promising therapeutic strategy for androgenetic alopecia.
49 citations
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January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
July 2022 in “Research Square (Research Square)” This study found that Egyptian women with frontal fibrosing alopecia had lower serum PPARγ levels and a higher occurrence of PPARG gene polymorphism compared to healthy controls, suggesting a potential role for PPARγ in the condition's development.
3 citations
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August 2014 in “Journal of The American Academy of Dermatology” This article discusses the role of filaggrin gene mutations in understanding atopic dermatitis and their link to allergic sensitization but does not report new clinical results.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that GLI2 plays a key role in activating follistatin, an activin/BMP antagonist, in response to hedgehog signaling in human epidermal cells, with implications for hair follicle development and basal cell carcinoma.
38 citations
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June 2018 in “Plant & cell physiology/Plant and cell physiology” This study found that overexpressing PLC5 in Arabidopsis thaliana reduced root growth but improved drought tolerance, and suggests PIP2 is crucial for root hair growth.
January 2025 in “Biochemical Pharmacology” In this study, fibroblasts treated with the small molecule peficitinib were reprogrammed into dermal papilla cell-like cells capable of inducing hair growth, offering a new strategy for hair loss treatment.
7 citations
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January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
8 citations
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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.
15 citations
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February 2021 in “Scientific Reports” This study found that novel RNA aptamers specifically inhibited FGF5-induced cell proliferation, suggesting their potential as candidates for treating FGF5-related diseases or hair disorders.
December 2022 in “Journal of neurodevelopmental disorders” This study observed that repeated hair follicle sampling is feasible and reliable for measuring FMR1 mRNA and FMRP in individuals with Fragile X syndrome, supporting its use in longitudinal studies.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
18 citations
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January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
1 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Dermal Fibroblast Progenitors have repressed chromatin profiles which hinder their ability to reform skin in allograft assays despite their differentiation potential.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
13 citations
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March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
119 citations
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November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
March 2025 in “International Journal of Molecular Sciences” This study analyzed proteomic changes in Jiangnan cashmere goats' secondary hair follicles and found that the PLIN2 gene significantly impacts hair follicle growth cycles by affecting dermal papilla cell proliferation, offering insights into breeding strategies to enhance cashmere yield.
November 2018 in “Biomedical Journal of Scientific and Technical Research” This article discusses the use of PRP and long-acting PRP for treating Female Pattern Hair Loss, emphasizing their potential benefits, but reports no new clinical results.
2 citations
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January 2009 in “Human cell culture”
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.