Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results.

This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.

This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.

This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.

This article reviews the clinical and histological features of acanthosis nigricans and its associations with insulin resistance and other conditions, but highlights the need for more research on its classification, severity assessment, and treatment options.

This study observed that female mice with disrupted 5α-reductase 1 showed increased insulin resistance and hepatic steatosis, suggesting altered glucocorticoid metabolism contributes to metabolic disorders.

This study revealed that chronic restraint stress in mice led to significant alterations in metabolic pathways and gene expression associated with hair growth inhibition, using metabolomics and transcriptomics analyses.

This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.

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.

This study utilized a mouse model of traumatic brain injury to reveal that acute neurotrauma triggers widespread lipid metabolism reprogramming and storage lipid accumulation in microglial and monocyte populations, leading to lysosomal dysfunction, inhibited autophagy, and exacerbated inflammation through a pathological feedback loop.

This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.

This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.

This review discusses various syndromes of severe insulin resistance, their biochemical and clinical features, and potential therapeutic options, but it reports no new clinical results.

This article describes protocols for isolating and expanding human epidermal neural crest stem cells and discusses their potential for cell-based therapies in regenerative medicine, but reports no new clinical results.

This study identified upregulation of genes linked to fibroproliferative disorders, such as platelet-derived growth factor and collagen genes, in patients with central centrifugal cicatricial alopecia, suggesting potential therapeutic targets.

This study identified and characterized several long noncoding RNAs in Cashmere goats, revealing complex regulatory roles in hair follicle development and growth, particularly within the Wnt signaling pathway.

This study found that extracellular vesicles derived from mesenchymal stem cells and umbilical cord blood plasma enhanced wound healing and reduced scar formation in mice, suggesting their potential as therapeutic agents for skin repair.

In this study, microarray and proteomic analyses indicated that genes involved in immune response, receptor binding, and growth factor activity might influence wool fibre diameter in sheep.

The document explains the genetic causes and characteristics of inherited hair disorders.

This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.

Activating the Eda/Edar pathway improves wound healing by enhancing hair follicle growth.

This study found that glucose starvation and hypoxia are physiological triggers of ER stress in in vitro differentiated adipocytes, rather than high concentrations of saturated fatty acids, cholesterol, or proinflammatory cytokines.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

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.

This study developed BroadAMP-GPT, a computational-experimental framework, to discover new antimicrobial peptides, identifying candidates effective against multidrug-resistant pathogens. Notably, AMP_S13 showed strong stability, low toxicity, and efficacy in infection models, highlighting the platform's potential in combating antimicrobial resistance.

AGC2-1 protein is essential for root hair growth in Arabidopsis.

This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.

This study found that MEGA PROTAC improved the prediction of ternary structures with higher maximum DockQ scores compared to the BOTCP method in 16 out of 22 test cases.

This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.

This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.