Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

This review examines complex regional pain syndrome (CRPS I) mechanisms, including immune dysregulation and psychological factors, but reports no new clinical results; the authors highlight potential diagnostic refinements.

This review discusses confluent and reticulated papillomatosis in polycystic ovarian syndrome patients, noting successful treatment with azithromycin in one case, and suggests potential association with acanthosis nigricans; it reports no new results.

This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.

This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.

This report presents a case of familial male-limited precocious puberty with a novel LHCGR gene mutation, where a boy responded well to treatment with bicalutamide and anastrozole.

This study observed that porocarcinoma exhibited a relatively low rate of local recurrence, nodal metastases, and mortality over a follow-up period exceeding five years.

This study found that Merkel cell carcinoma recurrence risk peaks within the first two years after diagnosis and varies significantly by stage, with immune suppression, age, and male sex also influencing risk.

In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.

This case report describes the first known instance of alopecia associated with multicentric reticulohistiocytosis, evidenced by scalp biopsy findings of histiocyte infiltration in a 52-year-old woman.

This review highlights recent progress in developing androgen receptor degraders, such as PROTACs, for treating castration-resistant prostate cancer, and notes that several have entered phase I or II clinical trials, showcasing potential to address drug resistance challenges.

This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

Deleting Crif1 in mouse skin disrupts skin balance and hair growth.

This case report describes a rare aggressive variant of squamous cell carcinoma on the scalp of a non-immunosuppressed older male, highlighting its high biological risk for metastasis and poor outcomes.

This review discusses the evolution of Cereblon ligands in PROTAC technology, highlighting chemical innovations that may enhance drug-likeness and applicability in protein degradation, while noting challenges and future research directions.

This study found that C-reactive protein may enhance monocyte adhesion to endothelial cells through NOX-mediated oxidative stress, suggesting a potential mechanism for atherogenesis.

This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.

In this study, Mononuclear Cells provided site-specific protection against chemotherapy-induced alopecia in rats treated with Ara-C, but not with CTX or VP-16, while PRP showed no protective effect.

This study suggests that PrPC plays a role in the differentiation of mouse embryonic stem cells during neurogenesis, impacting neural progenitor cell development.

The document provides a quiz for physicians to earn continuing medical education credits in facial plastic surgery.

This study established a mouse model for Cushing's syndrome due to a specific Crh mutation, which may help explore the effects of glucocorticoid excess and evaluate treatments for corticosteroid-induced osteoporosis.

In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.

This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.

In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

In this study, researchers found that overexpression of CRABP2 enhanced the proliferation of dermal papilla cells in Hu sheep through activation of the Wnt/β-catenin pathway, even when the pathway was inhibited.

This review examines current knowledge and treatment strategies for complex regional pain syndrome type I in adults, emphasizing clinical aspects and highlighting the lack of consensus on therapeutic approaches, without presenting new clinical findings.