Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

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.

In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.

This study found that the DNA methylation status of skin samples from cashmere goats was higher during the telogen stage compared to the anagen stage, identifying genes potentially important for hair follicle development and growth.

This review discusses the role of ADAM 17 in gynecological disorders, particularly PCOS, and suggests its potential for therapeutic intervention, but reports no new clinical results.

In this study, the researchers found that the choice of diagnostic criteria significantly affects the rate of PCOS diagnosis in adolescents.

This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.

This new method makes checking for female infertility less painful, less invasive, and doesn't use radiation.

This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.

This article describes the immunofluorescence tomography method to achieve high-resolution 3-D reconstruction of epithelial tissues and reports no clinical results.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study found that the RapidHIT™ ID system can successfully obtain DNA profiles from single hair roots, particularly those with high nuclei counts.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.

This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.

This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.

This review discusses the strong correlation between reflectance confocal microscopy images and horizontal histopathology in diagnosing skin tumors, highlighting the reliability of this non-invasive technique; no new clinical results are reported.

This study observed that MIRV improved gastrointestinal symptoms and other quality of life measures in patients with platinum-resistant ovarian cancer compared to chemotherapy.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

In this study, the researchers observed that post-radiation hair follicle repair in 3D architecture occurs through independent, long-range cell movements along the basal surface, resembling 2D healing processes.