25 citations
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December 2011 in “Surface and interface analysis” This study reports that hair damage from bleaching is associated with the oxidative cleavage of fatty acid thioester bonds, detectable by measuring the decrease in mass spectrometry peak at m / z 76.
11 citations
,
January 2022 in “Brazilian Oral Research” This study found that XP-endo Finisher R was approximately twice as effective as passive ultrasonic irrigation in removing root filling material from curved mesiobuccal canals of maxillary molars.
8 citations
,
July 2015 in “Molecular cytogenetics” This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.
May 2025 in “American Journal of Veterinary Research” Photobiomodulation did not significantly improve hair density in dogs with alopecia X.
18 citations
,
May 2020 in “Biomolecules” This review discusses spironolactone's new roles in tumor immunosurveillance, DNA repair inhibition, and viral infection suppression, highlighting its potential to extend uses beyond traditional applications, but reports no clinical results.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
5 citations
,
August 2016 in “International Journal of Cosmetic Science” In this in-vitro study, researchers found that shampoo-induced coacervates structurally resemble cationic polymers and contain anionic surfactants that may stimulate the scalp upon exposure to water.
5 citations
,
February 2015 in “Journal of Bio- and Tribo-Corrosion” This study found that plasma jets can effectively clean and oxidize human hair fibers, with argon/oxygen plasma having the strongest effects, suggesting potential as an alternative to peroxide treatment.
1 citations
,
October 1996 in “Journal of Cutaneous Medicine and Surgery” This review discusses the advancements needed for gene therapy to become commonly used in dermatology and reports no new clinical results.
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 “The Journal of Steroid Biochemistry and Molecular Biology” This study found that mice lacking both vitamin D and calcium-sensing receptors in epidermal keratinocytes are predisposed to developing squamous cell carcinoma as they age, due to impaired oxidative stress response and reduced DNA repair capabilities.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
April 2024 in “Research Square (Research Square)” This study found that bioconjugating 16-methylheptadecanoic acid (16-MHA) to damaged hair can mimic the protective properties of 18-methyleicosanoic acid (18-MEA), restoring the hair's structural integrity and moisture homeostasis, even after washing.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
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.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
September 2010 in “International Journal of Cosmetic Science” This study describes a microfluorometric method to quantify lipid removal and reattachment on human hair during light exposure and chemical treatments, altering hair surface properties from hydrophobic to hydrophilic.
104 citations
,
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
,
May 2019 in “Cosmetics” This paper reviews the surface degradation of hair and describes how combining 18-MEA with specific surfactants can maintain hydrophobicity on bleached and weathered hair surfaces.
5 citations
,
January 2017 in “Nevrologiâ, nejropsihiatriâ, psihosomatika” In this study, sustained-release sodium valproate showed high efficacy in achieving seizure remission for adults with focal and generalized epilepsy over one year, but side effects like weight gain and tremor were more frequent among heterozygous carriers of certain gene variants.
October 2023 in “Journal of health sciences and medicine :” This study aimed to characterize the dermatological findings in patients with end-stage renal disease undergoing maintenance hemodialysis and explore their relationship with demographic and clinical features, although specific results are not reported in the abstract.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
June 2004 in “Journal of Investigative Dermatology” Increased pigmentation may protect skin from UVB, new targets for skin disease treatments were identified, sunscreen ingredients don't affect hormones, TNF-α inhibitors may help diabetic wounds, and certain treatments could prevent chemotherapy-induced hair loss.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
271 citations
,
September 2008 in “Nutrition reviews” This study identified new dietary ligands for the human vitamin D receptor, including curcumin and gamma-tocotrienol, which may influence its biological functions.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
1 citations
,
July 2015 in “British Journal of Dermatology” Imiquimod improved skin pigmentation in most patients with xeroderma pigmentosum and may prevent further skin cancer, but some treatments can have side effects.
April 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers found that circulating exosomes isolated from the plasma of Xinji fine-wool and small-tailed Han sheep influenced hair growth characteristics in mice, altering follicle and hair shaft diameters, and affecting hair follicle development and melanin synthesis.