188 citations
,
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.
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 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.
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.
5 citations
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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.
11 citations
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April 2021 in “Advanced synthesis & catalysis” This study reports that the dye peri-xanthenoxanthene (PXX) can act as an efficient photocatalyst for various radical reactions, including complex dual catalytic processes and the synthesis of an investigational drug intermediate.
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.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” This study evaluated the effects of topical glucocorticoids on human skin using non-invasive imaging methods and observed changes such as alterations in skin layer thickness, keratinocyte size, and collagen and elastin signal intensity.
April 2017 in “Journal of Investigative Dermatology” This study found that sulfated CCK octapeptide reduces psoriasis-like skin inflammation in mice, suggesting a new pathophysiological role for CCK in regulating epidermal inflammation.
April 2017 in “Journal of Investigative Dermatology” In this study, HPH-15, a newly synthesized compound, demonstrated potential in reducing skin fibrosis in a mouse model by targeting underlying pathogenic mechanisms and exhibited a good safety profile, warranting further clinical trials for fibrotic skin disorders like systemic sclerosis.
April 2017 in “Journal of Investigative Dermatology” In this study, higher plasma leptin levels were associated with increased risk and severity of androgenetic alopecia in men, but further research is needed to understand the clinical implications.
4 citations
,
January 2024 in “Allergy” This study indicates that individuals exposed to PPD mount varying immune responses, with either tolerance, subclinical inflammation, or allergy, suggesting no true non-responders to PPD.
688 citations
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June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
70 citations
,
March 2008 in “Mechanisms of Ageing and Development” This review discusses genome maintenance mechanisms critical for preventing age-related diseases by preserving stem and progenitor cell potential, but reports no new empirical findings.
2 citations
,
February 2009 in “Journal of the American Academy of Dermatology” Injecting triamcinolone into the eyebrow area may help eyelash regrowth in alopecia areata patients.
February 2009 in “Journal of the American Academy of Dermatology” Transverse sections are better for non-scarring hair loss, vertical sections are better for lichen planopilaris, and either method works for other scarring hair loss types.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
October 2021 in “Journal of Investigative Dermatology” This study found no significant difference in SARS-CoV2 IgG seroconversion rates between patients with immune-mediated inflammatory diseases treated with targeted immune-modulating therapies and those on conventional systemic treatments.
March 2026 in “Indian Dermatology Online Journal” This report details a case study where a 40-year-old woman experienced allergic contact dermatitis and angioedema-like symptoms after using PPD-containing hair dye. Patch testing confirmed a positive reaction to PPD, highlighting the substance's potential to cause both T-cell and IgE-mediated hypersensitivity reactions.
April 2023 in “Journal of Investigative Dermatology” This study found that PX-12 inhibited the NLRP3 inflammasome and reduced psoriasis-like symptoms in a mouse model, suggesting its potential as a treatment for psoriasis.
242 citations
,
February 2016 in “Science” This research found that Foxc1 transcription factor and COL17A1 are critical in regulating quiescence and hair thinning in hair follicle stem cells, with aging-related DNA damage leading to hair loss.
147 citations
,
January 2003 in “American journal of clinical dermatology” This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
47 citations
,
March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
44 citations
,
January 2005 in “Dermatology” This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.