44 citations
,
September 2016 in “American Journal Of Pathology” This study identified a subpopulation of neural crest-derived progenitor cells in human corneal endothelial tissue from normal and Fuchs endothelial corneal dystrophy donors, which may have potential for future cell therapy development.
This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.
2 citations
,
September 2023 in “Health science reports” This meta-analysis found a strong association between metabolic syndrome and certain skin diseases, including psoriasis, hidradenitis suppurativa, androgenetic alopecia, and lichen planus, suggesting increased risk compared to the general population.
87 citations
,
July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
4 citations
,
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed the iCOUNT tool, which provides insights into stem cell behavior by tracking cell division events and molecular consequences in human and mouse neural stem/progenitor cells.
61 citations
,
July 2022 in “Journal of Nanobiotechnology” This study found that carbon dots derived from fucoidan effectively inhibit Enterococcus faecalis and its biofilm, offering a promising approach for managing biofilm-associated persistent endodontic infections.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
83 citations
,
May 2011 in “European Journal of Dermatology” This review discusses the role of corneodesmosin in skin and hair follicle integrity, with mentions of its link to hypotrichosis simplex and peeling skin disease, and reports no new results.
August 2019 in “International journal of dermatology and venereology” This review discusses the calcineurin/NFAT pathway's role in cutaneous squamous cell carcinoma, noting its involvement in tumor development, skin cell behavior, and the tumor microenvironment; it reports no new results.
56 citations
,
April 2019 in “The Plant Journal” This study found that CNGC 6, CNGC 9, and CNGC 14 are crucial for maintaining calcium oscillations necessary for normal root hair growth in plants, with mutations leading to defects like swelling and bursting.
21 citations
,
October 2013 in “Molecular Biology of the Cell” This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
October 2025 in “Indian Journal of Paediatric Dermatology” In this case report, a 6-year-old boy with Netherton syndrome was diagnosed using trichoscopy, which revealed characteristic hair shaft abnormalities such as bamboo, golf tee, and matchstick hairs.
May 2012 in “The journal of nervous and mental disease” This review discusses various aspects of Impulse Control Disorders, but reports no new clinical findings; the authors highlight existing knowledge gaps and the need for proven treatments.
2 citations
,
March 2023 in “Frontiers in Medicine” This case study presented a 16-year-old male with dermatosis neglecta and obsessive-compulsive disorder, where his skin condition improved after proper cleansing and psychiatric treatment, suggesting that DN may also indicate underlying psychiatric issues.
September 2021 in “CRC Press eBooks” This review discusses dissecting cellulitis of the scalp and reports no new clinical findings.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.
56 citations
,
December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
62 citations
,
March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
July 2022 in “Journal of the Dermatology Nurses' Association” This editorial summarizes key dermatological insights and learnings from the 2022 Dermatology Nurses' Association Convention, covering conditions like lichen sclerosus and melanoma, and issues related to nail disorders and skin of color.
17 citations
,
July 2018 in “Environmental and Experimental Botany” The researchers reported that silencing the NtNCED3-2 gene in tobacco reduced ABA content and drought tolerance, inhibited root and leaf development, and decreased photosynthetic ability due to altered isoprenoid metabolism.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
24 citations
,
February 2015 in “Experimental Cell Research” This study found that overexpression of the transcription factor NFIC may enhance the proliferation and differentiation of stem cells from the apical papilla, suggesting its potential role in dentin/root regeneration.
13 citations
,
February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
1 citations
,
February 2013 This study found that women with chronic telogen effluvium had significantly lower serum ferritin levels compared to healthy controls, suggesting a potential link between iron deficiency and this type of hair loss.
2 citations
,
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study demonstrates that neural stem cells in the adult vertebrate brain coordinate their division decisions using delayed local feedback mechanisms, involving Notch-mediated inhibition and dispersion effects, to maintain population homeostasis.