Search
for
Sort by
Research
420-450 / 1000+ results
research Transforming Growth Factor-??, Smad, and Collagen Expression Patterns in Fetal and Adult Keratinocytes
This study found that keratinocytes show increased expression of the TGF-β system and collagen type I with age, suggesting a heightened profibrotic response during skin differentiation associated with scarring.
research Cetuximab-Associated Elongation of the Eyelashes
This article reviews eyelash elongation as a side effect of EGFR inhibitors in cancer treatment, finding that the condition is typically not severe and may be managed by trimming.
research Message of nexin 1, a serine protease inhibitor, is accumulated in the follicular papilla during anagen of the hair cycle
This study found that nexin 1 mRNA, a potent protease inhibitor, is prevalent in rat follicular papilla cells and may play a role in regulating hair follicular growth.
research Col4a2-eGFPmouse model reveals the molecular and functional dynamics of basement membrane remodelling in hair follicle morphogenesis
This study used a novel fluorescent tagging method in mice to observe collagen IV dynamics during hair follicle development, revealing that alterations in basement membrane turnover can influence epithelial progenitor cell behavior and organ morphology by affecting cell proliferation and movement.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research An ERK-dependent molecular switch antagonizes fibrosis and promotes regeneration in spiny mice ( Acomys )
This study found that sustained ERK activity during tissue regeneration in spiny mice is linked to fibroblast growth factor and ErbB signaling, while inhibiting ERK shifted regeneration toward scarring.
research Activation of β-catenin signaling programs embryonic epidermis to hair follicle fate
This study found that activating β-catenin signaling in embryonic epidermis promoted hair follicle characteristics at the expense of normal epidermal differentiation, leading to early pigmentation and innervation.
research LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development
This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
This review discusses progeria, focusing on its pathogenesis, major symptoms, and management strategies, and includes a clinical case of a girl with the disease confirmed by genetic testing; it reports no new clinical results.
research Role of the Notch Ligand Delta1 in Embryonic and Adult Mouse Epidermis
Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
This paper considers fibrodysplasia ossificans progressiva as a segmental progeroid syndrome, which may help uncover mechanisms of normal aging and suggest targets for new treatments.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
research Elastogenesis Stimulation by Minoxidil or Nebivolol Reduces Premature Aging of the Aortic Wall in Diabetic Mice
This study in diabetic db/db mice found that treatment with the antihypertensive agents minoxidil or nebivolol stimulated elastogenesis and inhibited elastolysis, leading to restored elastic fibers, reduced aortic stiffening, and normalized blood pressure.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
research Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1 ‐mediated P53 ubiquitination
In a dermal Gorab knockout mouse model, this study found that Gorab mutations increase P53 protein accumulation and disrupt extracellular matrix expression, contributing to accelerated skin aging and suggesting a pathway involving epigenetic regulation.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.
research Editors' Picks
ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
research Nevoid Basal Cell Carcinoma Syndrome
This study found that nevoid basal cell carcinomas originate in the epidermis and upper hair follicles, resembling early nonnevoid basal cell carcinoma proliferations.
research Neural Wiskott-Aldrich syndrome protein modulates Wnt signaling and is required for hair follicle cycling in mice
In this study, N-WASP deficiency in mouse skin was found to cause severe alopecia and disrupt hair follicle cycling by 5 months, highlighting its critical role in skin function and Wnt signaling.
research Transient Bullous Dermolysis of the Newborn
This case report describes a black male newborn who developed bullae that healed with hypopigmentation, linked to collagenolysis and RER vacuoles potentially containing proteolytic enzymes.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.