Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.

This study found that nonionic liposomes were the most effective vehicle for delivering reporter genes into the skin of rat pups, compared to other liposome and nonliposome formulations.

This review discusses the role of enhancers and super-enhancers in tissue-specific gene regulation and cancer development, and it reports no new experimental results.

This study identified a set of wound-induced genes in planarians that play a role in regeneration initiation, with some genes specifically activating within regenerative cells called neoblasts.

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.

This study found that Foxn1-like genes in fish and mice are functionally equivalent in activating hair keratin genes, whereas changes in the cephalochordate Foxn1-like gene result in inactivity.

This study identified putative causal mutations for PCOS among first-degree relatives, although functional analysis of a specific GDF9 mutation was unsuccessful.

This study developed rat monoclonal antibodies that specifically detect Pax1/PAX1 protein, which could improve diagnostic protocols for conditions involving deregulated Pax1/PAX1 expression.

This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.

In this study, researchers identified four gene variants that may contribute to androgenic alopecia and vitiligo, proposing a novel di-genic inheritance model that could help guide genomic approaches for personalized treatment and early diagnosis.

This study found widespread losses of g-type lysozyme genes across various mammalian lineages, with both gene copies extensively lost in cetaceans and sirenians, and linked this to hairlessness in these fully aquatic mammals.

In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.

This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.

In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.

This study found that transgenic mice expressing HPV E6/E7 in the outer root sheath experience continuous hair follicle cycling due to delayed catagen entrance and insensitivity to telogen resting signals.

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.

This research identified genetic sequences that evolved at different rates in hairless versus hairy mammals, suggesting specific genetic changes contributed to the convergent evolution of hairlessness across various mammalian species.

This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.

This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.

This study suggests that a group of 16 imprinted gene network genes may serve as upstream regulators in the hair cycle, potentially influencing hair-loss disorders.

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

This study found that biliverdin beta and delta, metabolites of heme, play a critical role in Pseudomonas aeruginosa iron acquisition and cooperative behaviors, which are crucial for the bacterium's long-term infection in cystic fibrosis patients, suggesting potential targets for new therapies.

In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.