2 citations
,
September 2004 in “Experimental Dermatology” This review discusses how dysfunction in keratinocyte adhesion affects skin integrity and conditions like alopecia and keratoderma, highlighting the roles of intercellular junctions, and reports no new clinical results.
October 2022 in “Medičnì perspektivi” This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.
10 citations
,
October 2017 in “Pediatric neurology” This case report suggests that poor hair and nail growth in children with autism spectrum disorder and developmental delay may indicate a biotin-responsive condition, as biotin and acetazolamide therapy improved symptoms and school performance in the reported patient.
27 citations
,
July 2013 in “Journal of Dermatological Science” The conclusion is that androgenetic alopecia and senescent alopecia have unique gene changes, suggesting different causes and potential treatments for these hair loss types.
3 citations
,
April 2023 in “Frontiers in Pharmacology” This study identified high expression of the Sur2A subunit in cancerous cells in two animal models, highlighting a potential drug target in breast and renal cancers, with additional pharmacovigilance data linking KATP channel genes to varied cancer risks.
36 citations
,
June 2009 in “Archives of Dermatology” This text is an informational content piece about JAMA Dermatology's website and does not contain any research findings or conclusions.
144 citations
,
March 2013 in “Circulation Research” This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.
5 citations
,
September 2022 in “Molecular pharmacology” This article reviews current knowledge on KATP channel drug binding modes through cryogenic electron microscopy, highlighting distinct binding sites in the sulfonylurea receptor and potential mechanisms of drug action, but reports no new experimental results.
265 citations
,
July 2012 in “Cell” This study found multipotent progenitors in sweat ducts that become unipotent after sweat gland development, highlighting distinct regenerative capabilities in adult glandular skin stem cell populations.
124 citations
,
December 2016 in “Pharmaceuticals” This review discusses the functions and potential therapeutic targeting of TRP ion channels in the skin, noting their involvement in both physiological processes and various pathological conditions, but reports no new experimental results.
112 citations
,
May 2020 in “Nature Communications” This study found that cardiac fibroblasts significantly enhance the maturation of neonatal mouse and human embryonic stem cell-derived cardiomyocytes, suggesting a pivotal role in postnatal heart development and disease.
36 citations
,
September 2013 in “PLoS ONE” This study found that sweat gland stem cells primarily maintain sweat gland homeostasis but can trans-differentiate to aid in epidermal healing and regenerate diverse skin structures under certain conditions.
26 citations
,
December 2020 in “Nature metabolism” Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.
25 citations
,
May 2020 in “EMBO reports” This review discusses the potential roles of calcium in the regulation of pluripotent and tissue-specific stem cells but reports no new experimental results, highlighting areas for future research.
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.
21 citations
,
July 2019 in “Cardiovascular Research” This study found that prenatal exposure to androgens caused long-lasting heart remodeling and left ventricular hypertrophy in female mice offspring, suggesting potential cardiac risks for daughters of mothers with PCOS.
18 citations
,
August 2021 in “PLoS ONE” This study found that melanocyte progenitor cells are present in human subcutaneous adipose tissue and may differentiate into mature melanocytes, suggesting potential applications in treating skin diseases and rejuvenation.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in a mouse model of Leigh syndrome, rapamycin alters brain proteome and may extend survival by targeting protein kinase C.
4 citations
,
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reviews the characteristics, differential diagnosis, and management options for papular acantholytic dyskeratosis of the vulva, illustrated by a case of a 21-year-old patient, but reports no new clinical results.
3 citations
,
September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
1 citations
,
January 2012 in “Juntendō Igaku/Juntendo igaku” This study found that a simplified classification based on clinical and morphological features may aid in the diagnosis and initial management of inherited keratinizing disorders, although genetic analysis is essential for definitive diagnosis.
April 2024 in “Journal of cancer research and clinical oncology” This review discusses the isolation, characterization, and potential clinical applications of tissue-derived extracellular vesicles in cancer diagnosis, prognosis, and treatment, noting their significance but highlighting the risks and need for appropriate protocols.
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.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
February 2010 in “ePrints Soton (University of Southampton)” This research found that androgen bioactivity plays a role in normal female sexual differentiation, suggesting females develop within a significant androgenic environment, with implications for understanding conditions like congenital adrenal hyperplasia.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
62 citations
,
April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
59 citations
,
May 2017 in “Scientific reports” This study found that ZDHHC13 deficiency in mice is associated with abnormal liver function, lipid metabolism issues, and impaired mitochondrial function, highlighting ZDHHC13's regulatory role in liver metabolism.
48 citations
,
May 2015 in “NPJ microgravity” In this study, mice exposed to prolonged space conditions demonstrated skin atrophy, altered hair follicle cycles, and significant changes in the gene expression associated with skin muscle health.