Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, fibroblasts from long-term skin biopsy cultures retained their ability to reprogram into induced pluripotent stem cells after 16 months, despite undergoing transcriptional changes and decreased proliferation rates over successive generations.

This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.

This study observed that the loss of H3K9me3, via the ablation of Suv39h1, Suv39h2, and Setdb1 in embryonic mouse epidermis, disrupts skin development processes such as keratinocyte differentiation and hair follicle formation, highlighting H3K9me3's crucial role in epidermal morphogenesis.

This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.

This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.

This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.

This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.

This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.

This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

This study developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.

This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

This review explored the relationship between autoimmune thyroiditis and various autoimmune skin conditions, highlighting shared genetic markers and immunological mechanisms, such as disrupted immune tolerance and oxidative stress, which may contribute to the development of these disorders.

This study explored hair follicle gene expression in Inner Mongolia Cashmere goats and identified potential regulators of the transition between growth phases, including IL17RB and ZNF genes.

In this case-control study, researchers investigated the association between SIRT1 gene polymorphisms and colorectal cancer risk, finding no statistically significant differences in polymorphism frequencies between patients and controls, but noted trends that warrant further study in larger populations.

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 reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.

This study observed that exposure to different wavelengths of light affects opsin and clock gene responses in skin cells, suggesting potential therapeutic approaches using photobiomodulation for dermatological conditions like psoriasis and wound healing.

This study observed that dietary intake of glucoraphanin during juvenile and adolescent stages prevented cognitive deficits and abnormal gene expressions in the brain of adult offspring exposed to maternal immune activation, potentially implicating centrosome-related genes in the development of psychosis.

This study found that platelet-rich plasma may influence the proliferation of human hair dermal papilla cells by affecting gene expression related to the cell cycle.