4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
7 citations
,
February 2024 in “The Journal of Physiology” This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that anabolic steroid use combined with plakoglobin deficiency caused pathological atrial electrical remodeling in young male mice, suggesting a higher risk of atrial myopathy for males with desmosomal gene variants.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
1 citations
,
October 2025 in “Frontiers in Cardiovascular Medicine” This review examines AAS-related deaths and finds that anabolic-androgenic steroid abuse may lead to severe cardiac abnormalities, contributing to fatal arrhythmias and sudden cardiac death in young athletes and bodybuilders.
81 citations
,
December 2009 in “Journal of Dermatological Science” This review discusses the paracrine effects of adipose tissue-derived stem cells on surrounding cells and tissues, noting their potential therapeutic benefits, but reports no new clinical results.
42 citations
,
May 2016 in “Annual Review of Cell and Developmental Biology” This review explores the novel roles of white adipose tissue in tissue homeostasis and regeneration, emphasizing its impact on epithelial, muscle, and immune tissues, and reports no new clinical results.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
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.
July 2025 in “Scientific Reports” In this study, researchers identified six novel prognostic biomarkers for bladder cancer and developed a predictive model that effectively stratifies patients into high-risk and low-risk groups based on immune cell infiltration differences and gene expression.
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.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
61 citations
,
June 2018 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that light stimulation of intrinsically photosensitive retinal ganglion cells in the eyes can activate hair follicle stem cells through a neural circuit involving the sympathetic nervous system.
59 citations
,
November 2010 in “Circulation Research” This review discusses the potential role of Wnt signaling in aging-related heart diseases and reports no 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.
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.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
24 citations
,
April 2020 in “Cells” This study in cashmere goats found that DNA methylation levels were lower during hair follicle differentiation compared to induction, suggesting it plays a critical role in gene regulation for hair morphogenesis.
19 citations
,
June 2020 in “Animals” This study found that maternal sub-maintenance nutrition reduced the density and branching ratio of secondary wool follicles in Merino sheep fetuses and identified genes potentially involved in these processes.
17 citations
,
January 2019 in “International journal of biological sciences” This study found that inserting the Tβ4 gene into cashmere goats increased cashmere yield by 74.5% without compromising quality, suggesting potential economic benefits for goat breeding.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
13 citations
,
September 2018 in “Scientific Reports” In this study, researchers found that microRNAs and specific target genes, such as MiR-195 and genes like CHP1, SMAD2, FZD6, and SIAH1, play significant roles in regulating hair follicle initiation in cashmere goats.
13 citations
,
November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
10 citations
,
August 2012 in “Current Problems in Pediatric and Adolescent Health Care” This review explores hair signs related to nutrition disorders, such as thin and dyspigmented hair, without presenting new clinical findings; the authors highlight unknowns regarding underlying causes.
6 citations
,
October 2020 in “Journal of Cellular and Molecular Medicine” This study identified ten key hub genes and pathways crucial for understanding the molecular mechanism of hair growth by comparing dermal papilla cells in 2D and 3D cultures.
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.
3 citations
,
September 2022 in “Frontiers in veterinary science” This study identified key genes and signaling pathways involved in cashmere goat hair follicle growth cycles, influenced by melatonin implantation, suggesting a basis for further research on melatonin's regulatory mechanism.