29 citations
,
February 2022 in “Frontiers in Cell and Developmental Biology” This review discusses strategies to improve CRISPR/Cas systems by addressing limitations like off-target effects and delivery inefficiencies, offering practical guidance and highlighting future applications, but reports no new research findings.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
5 citations
,
June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.
3 citations
,
October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” This study found that finasteride was nongenotoxic in Drosophila, while doxazosin mesylate and saw palmetto induced homologous recombination, indicating potential genotoxic actions under the test conditions.
2 citations
,
April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
September 2025 in “Arthritis Research & Therapy” In this study, researchers found that the compound BMS-470539 induced a senescence-like state in fibroblasts from systemic sclerosis patients, reducing fibrosis-associated markers in vitro and decreasing skin thickness in a mouse model of skin fibrosis, suggesting a novel therapeutic strategy for managing fibroblast-driven diseases.
May 2025 in “Afyon Kocatepe University Journal of Sciences and Engineering” The researchers monitored various pollutants in real cosmetics industry wastewater and reported high removal efficiencies for parameters like Chemical Oxygen Demand and heavy metals through coagulation-flocculation, yet suggested that more effective COD treatment alternatives are necessary to better protect the environment and human health.
January 2025 in “Clinical and Medical Engineering Live” This study discusses the potential health risks associated with occupational radiation exposure, including genetic mutations, cancers, and other diseases, and outlines strategies for prevention and occupational health safety.
73 citations
,
December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
54 citations
,
December 2011 in “American Journal Of Pathology” This study found that immune-mediated destruction of bulge stem cells is a key factor in the alopecia observed in AE mice, suggesting it as a model for studying primary cicatricial alopecias, particularly lichen planopilaris.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
25 citations
,
August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.
20 citations
,
July 2013 in “European Journal of Oral Sciences” This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
9 citations
,
July 2011 in “Scientific Reports” This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.
7 citations
,
May 2020 in “Trends in molecular medicine” This study explored the immune environment of the hair follicle's bulge region and suggested that its unique signaling may prevent melanoma formation by lacking necessary proinflammatory signals for full oncogenic transformation, indicating potential strategies for melanoma prevention by replicating this immune-privileged environment.
6 citations
,
October 2022 in “International Journal of Molecular Sciences” This study found that Fgf5 mutant mice exhibited longer hair, particularly in males, likely due to a prolonged anagen phase in the hair cycle.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
6 citations
,
October 2020 in “Endocrine journal” This case report identifies two specific mutations in the WRN gene in a 40-year-old female with Werner syndrome, highlighting the need for awareness of its early manifestations and treatment options.
4 citations
,
October 2018 in “Cell Stem Cell” This study shows that differences in Hoxc gene expression in hair follicle mesenchyme along the body axis contribute to regional variations in mammalian hair growth.