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.
2 citations
,
October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
1 citations
,
June 2022 in “Movement disorders clinical practice” This study reports a unique case of trichotillomania as a presenting sign in a patient with neurological Wilson's disease, confirmed by genetic testing and copper abnormalities.
8 citations
,
January 2008 in “European Journal of Pediatrics” This report describes two prepubertal children with autoimmune gastritis, highlighting the need to screen paediatric patients with organ-specific autoimmune diseases for co-existing conditions.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
31 citations
,
March 2013 in “Gene” This study sequenced and analyzed the goat skin transcriptome, revealing genes involved in signal transduction and cell communication that are differentially expressed during hair growth phases, providing insights for Cashmere goat breeding.
August 2024 in “Journal of Animal Science and Technology” This study identified specific keratin-associated protein genes that are highly expressed in different varieties and sexes of Angora goats, providing insights for improving mohair development through targeted breeding strategies.
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.
12 citations
,
September 2024 in “Frontiers in Immunology” This study found that metabolism-related genes significantly impact the prognosis and metastasis in breast cancer, and the development of prediction models may guide personalized therapeutic strategies.
6 citations
,
March 2020 in “Scientific reports” This study found that glucose metabolism supports hair inductive gene expression and hair shaft elongation in dermal papilla cells, suggesting potential applications for in vitro hair follicle generation.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
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.
December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
26 citations
,
July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
236 citations
,
July 2001 in “Trends in Molecular Medicine” This review discusses common hair loss conditions and explores how advancements in hair follicle biology might lead to more effective treatments but reports no new results.
86 citations
,
December 2001 in “Experimental dermatology” This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.
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.
25 citations
,
February 2019 in “Genomics” This study reports that milk goats exhibit significantly more differentially expressed genes related to hair follicle cycling across different months compared to cashmere goats, especially in December.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin 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.
February 2022 in “International journal of research in dermatology” This case series describes seven distinct hair shaft disorders, highlighting the importance of accurate diagnosis since these conditions are often treated incorrectly as alopecias without improvement.
35 citations
,
January 2013 in “International Journal of Trichology” This study found that serum calcium, serum ferritin, and vitamin D3 levels were lower in students with premature graying of hair compared to controls, suggesting a potential role in the condition.
65 citations
,
March 2017 in “Experimental Dermatology” This review discusses the genetic and biological factors influencing hair curliness, revealing strong links to specific protein variations, and reports no new clinical results.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
29 citations
,
January 2020 in “BioMed Research International” This study found that sinapic acid promotes the browning of 3T3-L1 adipocytes and may offer therapeutic potential for obesity by influencing mitochondrial biogenesis through the p38 MAPK/CREB signaling pathway.
37 citations
,
May 2018 in “Frontiers in physiology” This study identified key long non-coding RNAs and mRNAs involved in primary wool follicle induction in carpet wool sheep, emphasizing their roles in hair follicle development and skin processes.
20 citations
,
February 2023 in “Biology” This review highlights the possibility of safely altering hair color through innovative cosmetics by targeting key biological processes in hair follicles, using insights from mammalian pigmentation studies and drug-induced hair color changes as potential pathways.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that hemoglobin α expression in the epidermis is induced by oxidative stress and may function as an antioxidant, contributing to skin barrier function.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
224 citations
,
February 2013 in “The Journal of clinical investigation/The journal of clinical investigation” This study identifies SOX9 as a critical downstream effector of ERG in TMPRSS2:ERG fusion-positive prostate cancer, indicating its role in tumor invasion and growth.