Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.

This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.

This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.

This study found that a genetic variation in SRD5A2 influences the severity of PTSD symptoms in a sex-specific manner among traumatized African-American males.

In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.

This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.

This study found that hair loss in an Olmsted syndrome mouse model with a Trpv3 mutation was linked to premature keratinocyte maturation, affecting hair follicle structure and function.

In this study, the researchers observed that transfecting hair follicle cells with an amino-terminal truncated beta-catenin gene significantly increased cell proliferation, potentially by enhancing c-myc gene expression.

This study found that enzyme replacement therapy in mice with a severe form of classical homocystinuria improved metabolic patterns and alleviated many clinical symptoms.

This article reviews the case of a patient diagnosed with basal cell nevus syndrome and reports no new research findings.

In this study, researchers observed elevated levels of epidermal γδ T cells, keratinocytes, and an upregulation of the BST2 gene among immune cells in C3H/HeJ mice with alopecia areata, suggesting a potential role in disease pathogenesis.

This study found that exogenous EGF inhibited hair follicle development and decreased follicle density in both Tabby and normal mice, suggesting interactions between EGF and the Ta peptide influence normal skin phenotype.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

In this study, researchers identified a mutation in mice that causes hair loss and immune system issues, located on chromosome 18.

In this case–control study, the researchers in Ukraine found no significant link between VDR rs2228570 polymorphism and decreased serum BDNF levels, though they observed a moderate correlation between serum BDNF and 25-OH Vitamin D levels in patients with thyroid disorders.

This case report describes a 32-year-old man who developed SCC of the common bile duct a year after receiving treatment for a malignant proliferating trichilemmal tumour on the scalp.

This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.

This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.

This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.

In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.

This study found that conditional expression of TGFβ1 in mice affects epidermal and hair follicle growth, with chronic expression causing severe alopecia and a negative feedback loop involving Smad7.

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.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

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 retinoid LGD1069 suppressed mammary tumorigenesis in a mouse model without observable toxicity, while TTNPB showed modest effects but was associated with significant toxicity.

This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.

This thesis investigates the role of phosphorylation and the mutation F826L in modulating androgen receptor activity, but concludes that the precise effects are not yet fully clear.