Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reveals that CSPG4-positive basal cell keratinocytes show distinct global gene expression from CSPG4-negative cells, despite similar colony-forming efficiency.

This study found that GLI1 RNA CISH was highly sensitive and specific for distinguishing basal cell carcinoma from nonfollicular epithelial neoplasms but not from most benign follicular tumors.

This study found that glibenclamide exhibited a cytostatic effect on MDA-MB-231 breast cancer cells, potentially mediated through K ATP channels, and enhanced the antiproliferative impact of doxorubicin.

In this study, researchers found that AGD1 is crucial for membrane recruitment during root hair development in Arabidopsis thaliana, with its pleckstrin homology domain essential for targeting specific plasma membrane regions.

This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.

This study observed that inflammatory AIGA is associated with sweat duct inflammation and sweat coil atrophy, while non-inflammatory AIGA involves only sweat coil atrophy, suggesting distinct pathological features between the two.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

This study found that Brg1, a chromatin-remodeling enzyme, plays a critical role in hair regeneration and early epidermal repair by regulating bulge stem cells through a Brg1-Shh interaction.

This study reports that metreleptin treatment in a boy with congenital generalized lipodystrophy significantly improved metabolic complications and overall health outcomes during the first year of therapy.

Blood tests for tumor cells could improve prostate cancer diagnosis and treatment; hair loss severity linked to a gene affecting prostate conditions.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.

This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.

This bibliometric analysis identified SGK1 as a key factor in cancer, showing that its dysregulation can lead to tumor growth and treatment resistance. The authors highlighted SGK1's potential as a therapeutic target, but note that further research is needed to develop effective treatment strategies.

In this study, researchers found that deleting the Bmi1 gene in murine melanocytes caused premature hair greying and loss of melanocyte lineage cells, highlighting BMI1's role in protecting melanocyte stem cells from stress and oxidative damage.

This study examines the development and application of cultured models for gallbladder carcinoma and highlights innovations and challenges in constructing effective in vitro growth models for cancer research.

This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.

This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.

This study found that high skin expression of amphiregulin in acute graft-versus-host disease was associated with severe disease grade, poor overall survival, and increased non-relapse mortality.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

This study identified several genes highly expressed in germ-line stem cells that are also common in hematopoietic stem cells, potentially aiding the exploration of fundamental stem cell commonalities.

This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.

This study found that knocking out the integrin β1 subunit in induced pluripotent stem cells enhanced their migration and improved their wound-healing effects in a mouse model.

This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.

This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.

This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.