Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.

This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.

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

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 identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

This study identified new genetic variants on chromosome 20p11 associated with male pattern baldness.

This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.

This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.

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.

In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.

This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.

This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.

This case report details a 17-year-old girl with systemic lupus erythematosus and recurrent infections linked to a complete isolated Clq deficiency.

This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.

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 study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

This review discusses the role of lncRNA Xist in cell growth regulation and disease development, particularly cancer, and reports no new experimental results.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.

This study strongly suggests that a distinct form of hereditary localized alopecia in a Chinese family is linked to a novel locus on chromosome 2p25.1–2p23.2.

Females are more prone to lupus and arthritis due to X chromosome factors.

This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.