Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that maternal melatonin supplementation improved fur quality in Rex rabbit offspring by increasing hair follicle density and altering melatonin receptor gene expression in several organs.

In this study, bromocriptine's inhibition of prolactin promoted secondary follicle development during anagen in cashmere goats, likely via changes in specific gene expressions, despite not affecting fiber characteristics or primary follicle activity.

This study suggests that melatonin promotes hair growth-related properties in DP cells by activating the AKT/GSK3β/β-catenin signaling pathway through melatonin receptors in a 3D spheroid culture system.

The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

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.

This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

This study found no significant association between the MDR1 C3435T polymorphism and methotrexate responsiveness in rheumatoid arthritis patients.

This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.

In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.

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

This study found that UVB irradiation alters skin stem cell niches leading to signs of photoaging, which may be reversed by adipose-derived stem cells through BMP4 pathway modulation and niche remodeling.

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 found that certain gene polymorphisms, specifically MTHFR 677CC and GGH 401TT and CT genotypes, were associated with fewer adverse effects from methotrexate in rheumatoid arthritis patients.

Defective protein folding due to a mutation is key in ANE syndrome.

This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.

This study reports that the nuclear receptor co-repressor 1 (NCoR1) inhibits cardiac hypertrophy by stabilizing the MEF2 and class II HDACs complex, potentially offering a target for new therapies.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.

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 HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.

Male hormones affect COVID-19 severity and certain drugs targeting these hormones could help reduce the risk.

This study suggests melatonin may promote cashmere growth in Inner Mongolian cashmere goats through the nuclear receptor RORα, with a noted mRNA expression difference in December compared to other months.

This chapter reviews existing knowledge about melatonin's MT₁ and MT₂ receptors in human tissues, discussing their established and potential functions, but reports no new clinical findings.