Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that the KrasG12D mutation alters ERK signal dynamics in hair follicle stem cells, leading to tissue deformation, and suggests a collective effect of mutant cells is necessary for disruption.

This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

In this study, researchers using live mice observed that oncogenic Kras mutation disrupts hair follicle architecture by sustaining ERK signal activation, which affects stem cell behavior and tissue integrity.

This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.

In this study, the researchers developed a quantum algorithm, QuantAnts machines, which identified complexes of CD9, CD34, and CD74 as potential targets for certain cancers involving the RAS pathway.

This study suggests that the residues Val-889 and Arg-752 in the androgen receptor steroid binding domain are crucial for the intermolecular interaction necessary for receptor dimerization and function.

This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.

This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.

This study suggests that structural changes in the TRPV3 channel are linked to severe skin conditions like Olmsted syndrome, with differences observed between heat-activated and resting states.

This review outlines how peptidyl arginine deiminases (PADIs) and protein citrullination are involved in hair follicle regeneration and inflammatory alopecia, but presents no new clinical findings.

This review discusses the expanding understanding of TRPV3's role in pain and skin pathology, while highlighting the need for further pharmacological research to fully resolve its functions.

This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.

This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.

In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

In this transgenic mouse study, preliminary findings suggest that overt melanocyte hyperplasia may require prior keratinocyte hyperplasia, indicating a potential role for keratinocyte mutation in early melanoma development.

In this study, researchers found that basal cell carcinomas with common Hedgehog signaling mutations may require additional mutations to hyperactivate downstream signaling and progress beyond dormancy.

This discussion reviews the molecular mechanisms of ADP-induced platelet activation and suggests the P2Y1 receptor as a promising target for developing new antithrombotic drugs, without reporting new research findings.

In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.

This study found that activating β-catenin signaling in embryonic epidermis promoted hair follicle characteristics at the expense of normal epidermal differentiation, leading to early pigmentation and innervation.

This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.

This study observed that nevus melanocytes do not exhibit signs of senescence, suggesting that their growth arrest is due to cell interactions and not directly caused by BRAF activation.

This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.

This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.