Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that anti-Ku-positive patients exhibit heterogeneous muscle features, primarily showing a myositis pattern with necrotizing fibers and vacuolar changes, and suggests autophagy may play a significant role in their pathogenesis.

This study found that the SVpgC2a keratinocyte cell line, used as a model for dysplastic epithelium, showed increased apoptosis, proliferation, and aberrant keratin expression compared to normal keratinocytes from buccal mucosa.

Cylindromas likely originate from hair follicle stem cells, not sweat glands.

In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.

This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.

In this case report, a 57-year-old man with chronic myelogenous leukemia developed a large, rapidly growing giant keratoacanthoma, highlighting the diagnostic challenges it poses compared to cutaneous squamous cell carcinoma, with surgical excision identified as the preferred treatment.

A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.

This study investigated pilomatrixoma, a benign skin tumor, and found that irregular expression of β-catenin and Lef-1 in transitional cells may contribute to amorphous debris and cyst formation.

In this case report, a 48-year-old woman with kerion celsi showed improvement with a regimen including antifungal, bacterial, and adjunctive treatments, though the specific role of mesenchymal stromal cell secretome could not be isolated from the other therapies.

Keratin mutations cause skin diseases and could lead to new treatments.

In this case study, electron microscopy revealed that harlequin ichthyosis involves giant mitochondria in keratinocytes and abnormal lamellar granule development, which may contribute to pathogenesis through altered lipid metabolism.

In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.

This paper reviews keratoacanthoma as a tumor that resembles but rarely progresses to squamous cell carcinoma, detailing its stages, potential origins, and distinguishing features from other similar growths, without reporting new clinical results.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.

In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.

This study suggests that typical skin lesions in Carney complex may originate from the pro-melanogenic activity of a specific dermal fibroblast population influenced by PKA signaling.

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.

This study identified the presence of recognizable organelles, such as lysosomes and mitochondria, in both the keratinized fiber and the hardened inner root sheath of the Romney wool follicle.

In this case study, a transition to the MEK inhibitor trametinib successfully stabilized disease and reduced toxicity in a patient with refractory kaposiform lymphangiomatosis after prolonged sirolimus and steroid treatment.

This study found that removing autophagy in keratinocytes led to increased skin inflammation, higher risk of skin tumors, and early hair follicle activation in mice.

This study suggests that polyamines regulate CK2 enzyme activity and its subcellular distribution, as demonstrated in mouse models and cell cultures with elevated levels of ornithine decarboxylase.

This article reviews keratin disorders and highlights recent progress in therapeutic approaches, including a clinical trial for pachyonychia congenita using siRNA, but reports no new clinical findings.

Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.

Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.