research Polyomavirus‐induced pilomatricomas in mice: from viral inoculation to tumour development
Polyomavirus A2 infection in newborn mice caused hair follicle tumors.
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90-120 / 1000+ results research JAK inhibition decreases the autoimmune burden in Down syndrome
JAK inhibition may help manage autoimmune conditions in Down syndrome.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Focused Review on Metal Nanoparticles in Hair Regeneration and Alopecia: Insights into Mechanisms, Assessment Techniques, Toxicity, Regulatory and Intellectual Property Perspectives
Metal nanoparticles show promise for treating hair loss but need more research to ensure safety.
research Importance of a multi-tiered treatment approach for intellectually and developmentally disabled patients with hidradenitis suppurativa
A multi-tiered treatment approach is crucial for managing hidradenitis suppurativa in patients with intellectual and developmental disabilities.
research Importance of a multi-tiered treatment approach for intellectually and developmentally disabled patients with hidradenitis suppurativa
A multi-tiered treatment approach is crucial for managing hidradenitis suppurativa in patients with intellectual and developmental disorders.
research COLLAB: A Global Survey of Clinical and Laboratory Assessment in Alopecia Areata by Hair Specialists
Hair specialists vary in testing for alopecia areata, highlighting the need for standard guidelines.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Reductive Stress Selectively Disrupts Collagen Homeostasis and Modifies Growth Factor-independent Signaling Through the MAPK/Akt Pathway in Human Dermal Fibroblasts
Reductive stress messes up collagen balance and alters cell signaling in human skin cells, which could help treat certain skin diseases.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Case Report: Penile Strangulation Secondary to Hair Tourniquet
Penile strangulation from hair can cause severe harm but can be treated if caught early.
research The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
Significant progress was made in understanding androgen excess disorders, but much is still unknown.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research The RAIG Family Member, GPRC5D, Is Associated with Hard-Keratinized Structures
GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
research Dynamic expression of Runx1 in skin affects hair structure
Runx1 is crucial for proper hair structure and development.
research Epigenetic age estimation in saliva and in buccal cells
The model accurately predicts age from saliva and buccal cells for forensic use.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Outcomes of paediatric patients with chronic liver disease in early adulthood: A heterogeneous, but representative, regional cohort study
Young adults who had liver disease as children often experience significant health problems and frequently need transplants.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Association of Acne Tarda with Endocrinological Disorders
Adult acne is often related to hormonal disorders, especially in women, and may need long-term treatment involving specialists.
research Role of polymorphism of the androgen receptor gene and non-random X chromosome inactivation in the genesis of androgenic alopecia in women of childbearing potential
Certain gene variations and irregular X chromosome activity may contribute to hair loss in women who can have children.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.