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.
82 citations
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January 2011 in “New Phytologist” This study demonstrated that AtVLN4 plays a role in root hair growth by regulating actin organization in a calcium-dependent manner.
March 2024 in “BMC cancer” This study reports that high expression of proteins ST14 and TMEFF1 in ovarian cancer correlates with higher tumor malignancy and worse prognosis, and reveals an interaction where ST14 regulates TMEFF1 to promote cancer cell proliferation, migration, and invasion.
2 citations
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February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
May 2026 in “Journal of Dermatological Science” This review highlights that collagen XVIIα1's role in maintaining dermal-epidermal junction integrity and hair follicle stem cell maintenance is compromised with age due to reduced levels and increased processing, potentially affecting skin and hair aging.
19 citations
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February 2017 in “Journal of radiation research” This study found that high-dose radiation can induce accelerated cellular senescence, inflammation, and loss of epithelial stem cells in mouse and human skin, contributing to radiation dermatitis.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.
287 citations
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July 2001 in “Journal of Cell Science” This study mapped 65 intermediate filament genes in the human genome, highlighting that the majority of keratin-related sequences are inactive pseudogenes, notably for keratins 8 and 18.
36 citations
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November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
February 2026 in “Biophysical Journal” 14 citations
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September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
2 citations
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September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
77 citations
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February 2017 in “Stem Cell Reports” This study found that activation of Wnt/β-catenin signaling in mouse testes promotes spermatogonial differentiation and reduces the stem cell pool, with SHISA6 inhibiting this process and maintaining stem cell characteristics.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
9 citations
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August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.
3 citations
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January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
June 2017 in “Mechanisms of development” Hox genes control hair follicle stem cell regeneration in different body regions.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” This study on Sdr16c5/Sdr16c6-null mice found that inactivating these genes significantly increased Meibomian gland secretions and altered lipid profiles but had a subtle impact on sebogenesis, suggesting the genes control a bifurcation point in meibogenesis pathways.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
September 2019 in “Journal of Investigative Dermatology” This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.
188 citations
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May 2009 in “Plant physiology” This study identified 19 specific genes involved in root hair growth and morphogenesis in Arabidopsis, using a combination of computational and experimental methods.
15 citations
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February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
October 2014 in “Cancer research” This study found that targeting mTORC1 with rapamycin effectively inhibited skin tumor promotion in a mouse model, highlighting a potential target for cancer chemoprevention.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that zebrafish and stickleback fish use similar genetic programs for tooth regeneration, despite differences in their dental structures.
15 citations
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December 2020 in “The Journal of General Physiology” This study found that acid regulation of the TRPV3 channel can inhibit its function from outside the cell while facilitating it from inside, providing insights into skin barrier and disorder mechanisms related to tissue acidosis.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
17 citations
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May 2011 in “Gene Therapy” This study found that transfecting hair follicle stem cells with a PEI-DNA complex expressing hTERT stimulated hair growth in rats by inducing follicle neogenesis and promoting the anagen phase.
4 citations
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October 2021 in “Scientific Reports” This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.
This study found that inhibiting mTORC2 in glioblastoma cells reduced DNA repair and increased apoptosis, highlighting its potential role in cancer cell survival and DNA damage response.