November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
235 citations
,
July 1999 in “Journal of biological chemistry/The Journal of biological chemistry” This study establishes a catalog of human type I hair keratins and identifies their specific roles and expression patterns during hair differentiation and growth in scalp follicles.
189 citations
,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
191 citations
,
December 2003 in “Journal of Investigative Dermatology” Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
12 citations
,
January 2023 in “Indian Dermatology Online Journal” This review discusses the diagnostic and therapeutic challenges of hair shaft disorders and suggests diagnostic tools like trichoscopy and light microscopy, but reports no new clinical results.
89 citations
,
April 2023 in “Forensic Science International Genetics” This review summarizes advancements in forensic DNA phenotyping for appearance, ancestry, and age prediction from crime scene samples, reporting no new research findings but highlighting areas needing further research and validation.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
1 citations
,
May 2018 in “Psychology, Health & Medicine” In this study, researchers found that the original four-factor model of causal illness attributions in the IPQ-R did not fit a Chinese sample, and instead identified a two-factor model focusing on psychological attributions and risk factors.
December 2020 in “International journal of research in ayurveda and pharmacy” This review covers hair anatomy, common hair diseases, diagnostic approaches, management, and hair care, but reports no new clinical findings; the authors highlight the importance of proper hair care knowledge.
21 citations
,
October 2009 in “Biochemical Engineering Journal” This review discusses various approaches to treating alopecia, including drug therapy and hair transplantation, but reports no new research findings; the authors highlight the need for novel techniques like cell culturing.
86 citations
,
October 2013 in “Dermatologic Clinics” Trichoscopy is a useful non-invasive method for diagnosing different hair loss conditions.
38 citations
,
December 2012 in “Journal of Cutaneous Pathology” This review discusses the significance of elastic tissue staining in dermatopathology, particularly for diagnosing primary elastic tissue disorders and other skin conditions, but reports no new clinical results.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
7 citations
,
December 2008 in “Expert Review of Dermatology” This article reviews hair and nail disorders in children, emphasizing their prevalence, congenital and acquired origins, and the diagnostic challenges compared to treatment, but reports no new clinical results.
1 citations
,
January 2017 in “Spectrum Research Repository (Concordia University)” This study found that young women with PCOS exhibited altered white matter microstructure and reduced cognitive performance compared to matched controls.
January 2000 in “BioScience” The document concludes that understanding hair biology is key to treating hair disorders, with gene therapy showing potential as a future treatment.
October 2022 in “Medičnì perspektivi” This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.
1 citations
,
January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
January 2021 in “Research Square (Research Square)” This study mapped copy number variations in Chinese fine-wool sheep, identifying regions linked to important traits like milk production and growth, and highlighting a strong selection signal at the RXFP2 gene.
This study constructed a genomic map of copy number variations in fine-wool sheep, revealing their potential impact on traits like growth, nutrient metabolism, and susceptibility to selection pressures.
7 citations
,
June 2015 in “The anatomical record” This study in Hexi cashmere goats found that secondary follicle activity increases with time, and Hoxc13 expression varies significantly across different growth stages, suggesting a role in follicle activity.
April 2008 in “Obstetrics, gynaecology and reproductive medicine” This article reviews the diagnosis and management of hirsutism in women, discussing its causes, assessment, and treatment options; no new clinical findings are included.
January 1989 in “Clinical and Experimental Dermatology” This symposium abstract reports no new experimental results and discusses the pathophysiology of hair growth as presented at an event organized by the Institute of Dermatology.
3 citations
,
January 2016 in “Journal of cosmetology & trichology” This report suggests that correcting nutritional deficiencies may improve hair quality in patients with Monilethrix and similar hair shaft disorders, though it is not a cure.