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.
68 citations
,
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.
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
,
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.
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.
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.
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.
36 citations
,
August 2018 in “Dermatologic Clinics” This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
30 citations
,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” This review proposes a classification system for childhood hair loss based on clinical appearance, age of onset, and associated symptoms, but reports no new clinical results.
23 citations
,
November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
16 citations
,
January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
15 citations
,
November 2022 in “Cell Death and Disease” In this study, the researchers identified CEP135 as a biomarker linked to poor sarcoma survival and suggested PLK1 as a potential therapeutic target for sarcoma patients with high CEP135 expression.
11 citations
,
October 2019 in “Cancers” This study found that spironolactone enhanced the effectiveness of non-DNA-damaging cancer drugs gemcitabine and osimertinib in cancer cell lines and a mouse xenograft model, likely by suppressing the anti-apoptotic protein survivin.
10 citations
,
May 2012 in “PloS one” This study found that non-pigmented hair follicles have significantly lower expression of nucleotide excision repair genes, which may be associated with reduced melanin production capacity in these follicles.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
7 citations
,
November 2000 in “Clinics in Dermatology” In this study, pediatric patients with overt polyautoimmunity frequently had systemic lupus erythematosus as an index disease, with clustering patterns revealing familial influence on autoimmune disease aggregation.
5 citations
,
January 2021 in “iScience” Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
5 citations
,
November 2008 in “Advances in Dermatology” This review discusses advancements in understanding hair cycle and inflammatory alopecias, proposing a standard classification and tiered treatment recommendations, but reports no clinical results.
5 citations
,
January 2011 This study found that Gyungohkgo-gamibang extract and minoxidil both significantly stimulated hair growth and increased hair density and thickness in C57BL/6 mice compared to a vehicle treatment.
2 citations
,
August 2023 in “Die Dermatologie” This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations
,
September 2015 in “Clinics in Dermatology” This article provides a diagnostic guide for clinicians to differentiate between various hair shaft disorders by using a structured question-by-question approach but does not report new clinical findings.
1 citations
,
February 2018 in “Madridge journal of dermatology & research” In this study, Satura® Rosta remedy was found to significantly increase hair follicle size, hair root volume, and skin thickness in mice, potentially by prolonging the anagen phase, with notable hair regrowth observed in older mice with alopecia.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
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.