Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This study found that HIF-P4H-2 function in FoxD1-lineage cells is crucial for normal hair follicle development and homeostasis in mice, implicating disrupted HIF, TGF-β, and Notch signaling pathways in associated defects.

In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.

This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.

This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.

In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.

This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.

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 study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

In this study, silencing P-cadherin in human scalp hair follicles reduced melanogenesis and associated protein expression, suggesting P-cadherin is crucial for normal hair pigmentation via GSK3β-mediated Wnt signaling.

This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.

In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.

This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.

This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.

This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.

This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

This case report highlights that women with nonclassical congenital adrenal hyperplasia should be aware of the risk of having a child with classical CAH if their partner also carries a severe mutation.

This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.

This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.

This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.

This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.

This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.

In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.