3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
9 citations
,
December 2018 in “Journal of Natural Fibers” This study found that K33A was significantly upregulated in lustrous Magra wool follicles, while other keratin and KAP genes showed downregulation, impacting wool's physical properties like luster.
14 citations
,
July 1994 in “Journal of Dermatological Science” In this study, transgenic mice expressing a mutant K6 gene developed progressive scarring alopecia and keratosis, suggesting they may model a new keratin disorder.
82 citations
,
December 2011 in “Journal of Biological Chemistry” This study discovered that a network controlled by the gene p63 is crucial for keratinocyte differentiation and is linked to MYC through cell adhesion-related pathways.
28 citations
,
April 1996 in “Cell biology international” This review discusses changes in keratin structure or gene expression that result in various skin disorders and reports no new clinical findings.
68 citations
,
November 2018 in “Molecular Biology and Evolution” This study found that keratin genes in the epidermis of aquatic mammals like cetaceans have evolved to replace stress-inducible keratins K1 and K10 with constitutively expressed K6 and K17, suggesting adaptations to their environment.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
29 citations
,
November 2011 in “Veterinary pathology” This study reports that eccrine sweat glands in mice predominantly develop on the footpads, offering a reference for skin research involving genetically engineered mice.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
15 citations
,
January 1987 in “Electrophoresis” This study found that electrophoretic keratin typing of head hair can identify specific polypeptide patterns, suggesting potential applications in genetic and forensic investigations.
This study found that deleting the Twist1 gene in skin keratinocytes significantly reduced UVB-induced skin cancer and hyperproliferation in mice and suggested Twist1 as a target for skin cancer prevention.
126 citations
,
October 2012 in “PLoS ONE” This study found that reduced cytokinin levels allow plants to adapt to low potassium conditions by enhancing root hair growth, reactive oxygen species accumulation, and expression of a key potassium transporter gene.
14 citations
,
October 2006 in “Journal of Investigative Dermatology” This review discusses the evolution and revision of keratin protein nomenclature in light of genomic discoveries, reporting no new experimental results; the authors propose a new naming system for future keratin publications.
13 citations
,
July 2018 in “General and comparative endocrinology” This study observed that direct exposure to androgens in Western clawed frogs differentially affects thyroid receptor and deiodinase gene expression in male and female tissues, offering insight into sex-specific metabolic pathway activation.
February 2022 in “International journal of KIU” This review discusses genetic susceptibility and dietary factors influencing COVID-19 severity and summarizes the genetic variants linked to infection outcomes, but it reports no new clinical results.
March 2024 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that faster algorithms for inferring ancestry in genomic data can better capture historical and functional insights into genome variation than traditional methods in large datasets like the UK Biobank.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
48 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the genetic and protein interactions involved in hair growth, highlighting regulatory sequences, expression patterns, and potential genetic modifications, but presents no new experimental findings.
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.
69 citations
,
August 1999 in “Developmental biology” This study found that ectopic expression of Whn in transgenic mice caused impaired differentiation in epidermis and hair follicles, with hair growth defects and severe urinary tract issues leading to hydronephrosis.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
17 citations
,
April 2007 in “Kidney international” This study found that 1,25 dihydroxyvitamin D3 significantly increased the expression and activity of vasculoprotective natriuretic peptide receptor-A in cultured inner medullary collecting duct cells, suggesting a potential mechanistic role in cardiovascular and renal benefits.
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.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
16 citations
,
February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.
4 citations
,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that ELL is crucial for maintaining the proliferative capacity of the basal layer in human epidermal keratinocytes by stabilizing RNA polymerase II at the transcription start site.
2 citations
,
September 2022 in “Organoid” In this study, the researchers developed a new protocol using human-induced pluripotent stem cells to efficiently create skin hair follicle organoids, which may aid in optimizing hair follicle growth and exploring treatments for alopecia.
This study examined the molecular communication in psoriasis cells, highlighting unique immune cell interactions and identifying new features of the hair follicle cell-psoriasis axis. It suggests the potential for targeted therapies at the single-cell level to improve psoriasis treatment.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
23 citations
,
December 2020 in “Frontiers in Cell and Developmental Biology” This review explores recent insights into how intrinsic gene oscillations and molecular interactions in hair follicle stem cells contribute to their regenerative potential, with potential implications for regenerative medicine, but reports no new clinical results.