8 citations
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September 2017 in “Scientific Reports” This study found that the mitotic arrest deficient protein MAD2B negatively affects TCF4-induced growth and proliferation of dermal papilla cells, which are vital for hair follicle development.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
January 2026 in “Biomolecules” This review suggests that the TSC22D family genes may influence metabolism and cancer, potentially serving as a therapeutic target for conditions like diabetes, obesity, and certain tumors, depending on the tumor environment.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
6 citations
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July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
108 citations
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July 2002 in “Molecular and cellular biology” This study found that overexpressing Dsg3 in the suprabasal epidermis of transgenic mice resulted in flaking skin and abnormal hair growth, supporting Dsg3's role in regulating epidermal differentiation.
1 citations
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October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
27 citations
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September 1999 in “Journal of Investigative Dermatology” This study found that protease nexin-1 mRNA is expressed in human dermal papilla cells and is downregulated by dihydrotestosterone in balding scalp, suggesting a role in male-pattern baldness progression.
11 citations
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January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that TLR3 activation in human keratinocytes enhances exosome biosynthesis and expression of hair follicle stem cell markers, suggesting a potential mechanism for tissue regeneration.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
2 citations
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July 1994 in “Journal of Dermatological Science” This study found that a laboratory model using nude mice can produce human hair follicles with amino acid compositions resembling both normal and trichothiodystrophy-affected human scalp hair over extended periods.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
175 citations
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August 1997 in “Nature Genetics” January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that DNA methylation regulates hair follicle differentiation in cashmere goats by suppressing gene expression during induction and enhancing it during differentiation, with potential involvement of specific lncRNAs.
4 citations
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December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
2 citations
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November 2022 in “Acta crystallographica. Section B, Structural science, crystal engineering and materials./Acta crystallographica. Section B, Structural science, crystal engineering and materials” This study reports the synthesis and structural characterization of a novel dinuclear platinum(III) complex with potential antitumor and catalytic activity.
34 citations
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June 2005 in “Developmental dynamics” This study found that Runx3 deficiency in mice affects hair type and shape, suggesting it may regulate hair formation through interactions between dermal and epidermal layers.
19 citations
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May 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the type 3 IP(3) receptor in their hair follicles experienced repetitive hair loss and regrowth, indicating disrupted hair-cycle regulation potentially linked to specific signaling pathways.
22 citations
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November 2016 in “International journal of molecular sciences” This study suggests that impaired VDR signaling in mice leads to dysregulated Ddit4 expression, impacting hair cycle progression and wound healing.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
February 2024 in “Planta” This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.
37 citations
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February 2005 in “Journal of Investigative Dermatology” This research suggests that defects in keratinocyte differentiation due to putrescine accumulation in SSAT transgenic mice lead to skin changes and hair loss, and reducing putrescine can promote hair regrowth.
May 2023 in “Skin research and technology” This study found that WD-aptamer increased β-catenin expression and promoted human hair follicle dermal papilla cell proliferation by interfering with the CXXC5-Dvl1 interaction in the Wnt signaling pathway.
1 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the NAC transcription factor RD26 as a critical regulator of drought-induced root hair growth restriction in Arabidopsis thaliana, with a similar mechanism observed in tomatoes, indicating evolutionary conservation.