Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study used cryoelectron microscopy to unveil the structure of LPA-bound human LPAR6, revealing unique ligand binding and recognition modes distinct from LPAR1, which may aid in designing targeted compounds for hair loss and cancer.

This review discusses the physiological roles of the epidermal differentiation complex and its potential involvement in psoriasis, but it reports no new experimental findings.

This study found that epidermal growth factor may stimulate the growth of hair follicle epithelium and potentially accelerate the transition from anagen to catagen phase in cultured human hair follicles.

This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.

This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.

This case report describes three instances of eosinophilic pustular folliculitis lacking visible pustules, which histopathology confirmed involve eosinophilic infiltration around hair follicles.

In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.

This study reported that human induced pluripotent stem cell-derived skin organoids, used to model epidermolysis bullosa, have an epidermal-dermal junction largely lacking type VII collagen, which is important for skin structure.

This study reports a case of a patient with neuromyelitis optica spectrum disorders treated with eculizumab who developed fatal sepsis after insulin resistance emerged.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

This study reported significant transcriptomic changes in keratinocyte and immune cell populations in a mouse model with EGFR-deficient epidermis, suggesting possible targets for mitigating adverse skin events in EGFR-targeted cancer therapy.

This study suggests that pretreatment with a PPAR-γ modulator may prevent damage to hair follicle stem cells caused by a chemotherapy metabolite, potentially offering a strategy to mitigate permanent chemotherapy-induced alopecia.

This study found that LEF-1 expression influences dermal papilla cells' proliferation through Wnt signaling, impacting the potential for cashmere yield improvement.

This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.

This study identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.

This paper reviews the role of endoplasmic reticulum stress and the unfolded protein response in Hutchinson-Gilford progeria syndrome-related atherosclerosis, especially in vascular smooth muscle cells, but reports no clinical findings; intervention in these pathways is suggested as a potential therapeutic strategy.

Ets2 gene is crucial for placental development in mice.

This study revealed that deleting EZH2 in mesenchyme-derived cells of the female reproductive tract led to impaired uterine gland development and pregnancy loss in mice, highlighting EZH2's crucial role in fertility.

In this study, researchers found that syntaxin 9, a novel syntaxin family member, interacts specifically with the epidermal growth factor receptor and may influence its transport and signaling in some epithelial cells.

This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.

This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.

In this study, all 26 patients with epidermolysis bullosa were found to have extensive dental caries, with various dental and oral complications varying by EB type, due in part to inadequate oral care and associated physical limitations.

In this study, rabbit esophageal epithelial cells were found to produce K4 and K13 keratins in suprabasal cells, forming disulfide-crosslinked dimers that may support the physical stability of the esophageal lining.

This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.

This article describes a case of hypertrichosis potentially induced by using efalizumab but provides no new clinical study results.

This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.

This study found that increased intracellular expression of thymosin β4 is necessary and sufficient to induce PAI-1 gene expression in endothelial cells, potentially mediated through Ku80 as a novel receptor.

This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.

This study found that inhibiting Wnt/β-catenin signaling disrupted hemidesmosome organization in keratinocytes, suggesting potential therapeutic targets for HD-defective diseases like epidermolysis bullosa.

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.