research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
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90-120 / 1000+ resultsresearch Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Molecular mechanisms of viral oncogenesis in humans
Some viruses can cause cancer by changing cell processes and avoiding the immune system; vaccines and targeted treatments help reduce these cancers.
research Comparison of viral RNA–host protein interactomes across pathogenic RNA viruses informs rapid antiviral drug discovery for SARS-CoV-2
Cepharanthine and Trifluoperazine are effective against SARS-CoV-2.
research The influence of interferon on healthy and diseased skin
Type I interferons play a key role in the development of various skin diseases.
research Advancements in research on the immune-inflammatory mechanisms mediated by NLRP3 inflammasome in ischemic stroke and the regulatory role of natural plant products
Natural plant products like Proanthocyanidins and curcumin may help treat ischemic stroke by reducing inflammation.
research Comparative Proteomic Analysis in Scar-Free Skin Regeneration in Acomys cahirinus and Scarring Mus musculus
The African spiny mouse heals skin without scarring due to different protein activity compared to the common house mouse, which heals with scarring.
research Distinct Transcriptional Profiles of the Female, Male, and Finasteride-Induced Feminized Male Anogenital Region in Rat Fetuses
Finasteride exposure affects gene expression and anogenital distance in male rat fetuses.
research Genetic analysis of a novel antioxidant multi-target iron chelator, M30 protecting against chemotherapy-induced alopecia in mice
M30 is a promising treatment for preventing hair loss during chemotherapy.
research Essential Role of STAT3 Signaling in Hair Follicle Homeostasis
STAT3 signaling is important for healthy skin and hair follicles, and its disruption can lead to skin conditions like atopic dermatitis.
research Review of Ayurvedic herbs with Kesharanjana Property in the Management of Caniites (Palitya)
Certain Ayurvedic herbs may help manage premature greying of hair.
research Generating detailed intercellular communication patterns in psoriasis at the single-cell level using social networking, pattern recognition, and manifold learning methods to optimize treatment strategies
New insights into cell communication in psoriasis suggest innovative drug treatments.
research Anogenital distance as a biomarker for incomplete masculinization : Molecular mechanisms in the perineum
A short male anogenital distance may indicate incomplete masculinization due to disrupted androgen action.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research 1335 Maintenance of epidermal progenitor function through the mRNA degradation and translation pathways
The protein DDX6 helps keep skin cells renewing properly by controlling the production of certain other proteins and breaking down those that cause cells to mature too quickly.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Allelic frequencies for the seventeen Y-STR loci observed in Iraqi male patients with prostate cancer
Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.