41 citations
,
April 2016 in “Journal of experimental botany” This research suggests that the barley protein RACB supports cell polarity functions rather than interfering with immunity, as it aids nucleus positioning during fungal attack rather than affecting early immune responses.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
27 citations
,
July 2017 in “Scientific Reports” This study found that conditional knockout of N-WASP in keratinocytes of mice led to skin barrier defects, increased immune cell infiltration, and hyperproliferation of keratinocytes, indicating its crucial role in skin homeostasis.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
19 citations
,
May 2022 in “International journal of molecular sciences” This study suggests that PRX01, PRX44, and PRX73 regulate extensin-mediated cell wall properties during root hair cell growth, influencing growth patterns, peroxidase activity, and cell wall thickness.
104 citations
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May 2003 in “Endocrinology” This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
June 2025 in “Biomolecules” In this study, researchers found that activating RORA in hair follicle stem cells reduced the expression of cytoskeleton-related genes, affecting cell migration and adhesion, which may aid in understanding hair follicle development and potentially inform alopecia treatments.
3 citations
,
September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
16 citations
,
November 1994 in “Developmental Biology” Retinoic acid causes gland formation instead of hair in mouse skin by altering epidermal and dermal interactions.
50 citations
,
December 2005 in “European Journal of Immunology” This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.
1 citations
,
November 2023 in “Journal of Microbiology and Biotechnology” This study reported that immortalizing human dermal papilla cells using HPV16 E6/E7 oncogenes increased their proliferation and maintained their hair follicle formation capability, potentially facilitating in vitro hair growth and regeneration research.
December 2022 in “International Journal of Molecular Sciences” This study used machine learning to identify FDA-approved drugs afatinib, neratinib, and zanubrutinib as potential KRASG12C inhibitors for resistant non-small-cell lung cancer, highlighting the potential of AI in drug repurposing.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
April 2023 in “Journal of Investigative Dermatology” This study found that tissue transcriptomics and a normalization approach can effectively cluster nine inflammatory skin diseases and identify specific biomarkers, including PTEN as a marker for cutaneous lupus erythematosus.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
This study suggests that keratin 15 and Id3 proteins play distinct roles in epithelial and dermal cell activities during the regeneration stages of rat vibrissae hair follicles.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel mechanism by which dsRNA-induced TLR3 activation and retinoic acid pathways contribute to new hair follicle formation after deep wounds in mice and suggested a similar potential in humans.
46 citations
,
November 2019 in “Journal of Integrative Plant Biology” This study found that calmodulin 7 (CaM7) inhibits the calcium channel CNGC14 in root hairs, affecting their polar growth by controlling calcium signaling.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.
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.
26 citations
,
April 1996 in “Journal of Investigative Dermatology” November 2024 in “Journal of Investigative Dermatology” 130 citations
,
January 2000 in “Nature biotechnology”
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
1 citations
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August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
73 citations
,
June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
140 citations
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October 2008 in “Nature Genetics” 14 citations
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August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.