9 citations
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June 2016 in “Stem cells” In this study, overexpression of secretory phospholipase A2 Group-IIA in transgenic mice led to depletion of hair follicle stem cells and increased differentiation, linked to changes in histone modifications.
27 citations
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July 1997 in “PubMed” This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
75 citations
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August 2018 in “Plant physiology” In this study, researchers found that increased hydrogen sulfide levels in Arabidopsis disrupted actin dynamics through S-sulfhydration, leading to the depolymerization of actin filaments and inhibited root hair growth.
4 citations
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May 2019 in “Zeitschrift für Naturforschung C” This study found that Ishige sinicola extract stimulated osteoblast differentiation and bone formation in MC3T3-E1 cells, suggesting potential use for osteoporosis prevention and treatment.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.
159 citations
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January 2006 in “BMC Cell Biology” This study found that manipulating Wnt signaling pathways in cutaneous wounds can induce skin structures resembling regeneration, suggesting a potential role for Wnt signals in restoring skin architecture during wound healing.
July 2026 in “Pediatric Allergy and Immunology”
November 2025 in “Frontiers in Oncology” This study found that Si extract, cryptomeridiol, and SiAgNPs have the ability to induce cell death and prevent cell growth in HepG2 liver cancer cells, suggesting cryptomeridiol's potential as a phytochemical component in developing new therapies for hepatocellular carcinoma using nanotechnology in vitro.
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.
171 citations
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June 2004 in “Journal of Investigative Dermatology” GLI2 activates GLI1, promoting skin tumor growth and hair development.
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.
February 2023 in “Journal of dermatology” This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
18 citations
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February 1992 in “Molecular Biology Reports” This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.
In this study, a newly designed protein degrader targeting androgen receptors showed promise in reversing hair regrowth inhibition in a mouse model of androgenetic alopecia, suggesting potential as a novel and safe treatment strategy.
25 citations
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May 2016 in “Molecular biology of the cell” This study found that the AtSfh1 protein in Arabidopsis is essential for phosphatidylinositol-4,5-bisphosphate signaling crucial to polarized root hair growth, utilizing both phosphatidylinositol and phosphatidylcholine-binding activities.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
7 citations
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September 2017 in “Scientific Reports” This study found that overexpression of sPLA2-IIA in homozygous mice resulted in cyclic alopecia, a halt in hair follicle cycling, and impaired wound healing due to complete loss of hair follicle stem cells.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.