10 citations
,
November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced laser particles as a new imaging probe capable of real-time tracking of thousands of individual cells in 3D tumor models, suggesting potential for advanced single-cell analyses.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
32 citations
,
January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
60 citations
,
March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
31 citations
,
October 2010 in “Progress in lipid research” This review discusses the role of LPA(3) in embryo implantation and its genetic connection with prostaglandin signaling, but reports no new clinical results.
19 citations
,
April 1999 in “British Journal of Dermatology” This study shows that keratin 2e exhibits distinct temporal and regional expression patterns in fetal epidermis, suggesting different regulatory and functional roles from other epidermal keratins.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” This study suggests that CD151-integrin complexes inhibit epithelial cell migration, and that disruption of these complexes enhances migration, regulated by Rho GTPase activation differences on distinct laminins.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
60 citations
,
July 2014 in “Autophagy” This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
37 citations
,
May 1998 in “Journal of Dermatological Science” Basal cell carcinoma shows keratin patterns similar to undifferentiated hair follicle cells.
June 2020 in “Annals of the Rheumatic Diseases” This observational study concluded that anti-Ku antibodies do not specifically indicate any systemic autoimmune disease or associated clinical phenotype.
September 2021 in “CRC Press eBooks” This review discusses the clinical and trichoscopic features of lichen planopilaris and notes its potential underdiagnosis prior to hair transplant, but it reports no new findings.
10 citations
,
July 2015 in “Journal of Cosmetic Dermatology” This study found elevated tissue levels of DKK-1 in patients with both androgenetic alopecia and alopecia areata compared to controls, suggesting DKK-1 as a potential therapeutic target for these conditions.
April 2017 in “Journal of Investigative Dermatology” In this pilot study, researchers observed a correlation between clinical severity and histologic severity of lichen planopilaris, suggesting that an immunohistochemical scoring system could aid in grading disease activity.
175 citations
,
August 1997 in “Nature Genetics” 76 citations
,
January 1998 in “Mammalian Genome”
This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
April 2023 in “IP Indian journal of clinical and experimental dermatology” This article reviews the pathogenesis, complications, and management of lichen planus, especially its persistent oral form, and highlights the need for further prospective studies.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
68 citations
,
March 2008 in “Experimental dermatology” This study introduced a novel in vitro assay for tracking melanosome transfer between melanocytes and keratinocytes, facilitating the quantification of melanin transfer and supporting the role of filopodia as a conduit.
38 citations
,
November 1991 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Keratins 8 and 14 can help identify and diagnose benign skin tumors.
This study found that hoof progenitor cells from fresh equine tissue have multilineage differentiation capabilities, offering insights for future progenitor cell-based hoof and dermal-epidermal tissue engineering.
4 citations
,
January 2021 in “Journal of Clinical Medical Research” This review provides an in-depth analysis of the structure and function of c-kit activation, and its role in both normal physiological and pathological conditions, with no new research findings reported.
74 citations
,
March 2013 in “Development” This study found that Hopx labels a long-lived progenitor population in hair follicles, which contributes to hair follicle stem cell homeostasis and has an alternative origin from previously thought progenitors.
3 citations
,
January 2022 in “Medical Mycology Journal” This study observed Malassezia hyphae in the keratotic plugs of healthy individuals, which contrasts with previous findings of these hyphae primarily in lesions of pityriasis versicolor patients.
11 citations
,
January 2013 in “Methods in molecular biology” This study describes a method for labeling and tracking hair follicle stem cells in mouse skin using a Cre/lox recombination system with tamoxifen, providing insights into stem cell behavior and contribution to tissue regeneration.
19 citations
,
May 2016 in “Matrix Biology” In this mouse study, researchers found that the absence of laminin-511 in skin delays hair follicle development and disrupts hair shaft differentiation, affecting key transcription factors for hair keratins.