research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
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930-960 / 1000+ results research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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 Screening: seeking a balance
The document concludes that better training and education are needed for proper cancer screening and criticizes the GMC's inaction as harmful to clinical ethics in the UK.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Sacituzumab tirumotecan (sac-TMT/MK-2870/SKB264): a novel antibody–drug conjugate in breast cancer
Sacituzumab tirumotecan shows promise in treating breast cancer with manageable side effects.
research Alterations in Endogenous Retinoids with Acute UVB Exposure and in the Progression of Cutaneous Squamous Cell Carcinoma
UVB exposure affects retinoid metabolism, which is important for skin cancer progression and treatment.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research News in brief
Breast cancer survivors may have a higher risk of falls, tamoxifen could prevent breast cancer and deaths, new guidelines urge caution with prostate cancer therapy, and early balding in men may indicate a higher prostate cancer risk.
research RSPO1, a potent inducer of pancreatic β cell neogenesis
RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
research 410 NON-INVASIVE DIAGNOSIS OF PROSTATE CANCER FROM BODY FLUIDS USING A PANEL OF TUMOR SUPPRESSOR GENES
Blood tests for tumor cells could improve prostate cancer diagnosis and treatment; hair loss severity linked to a gene affecting prostate conditions.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research 583 Induction of type 17 collagen decreases ultraviolet b-induced cellular senescence in human htert/ker-ct keratinocytes
Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Data from Mobilizing Transit-Amplifying Cell-Derived Ectopic Progenitors Prevents Hair Loss from Chemotherapy or Radiation Therapy
Activating certain hair follicle cells could prevent hair loss from cancer treatments.
research Biochemical and immunohistochemical analyses of keratin expression in basal cell carcinoma
Basal cell carcinoma shows keratin patterns similar to undifferentiated hair follicle cells.
research 7DHC and BM15766 treated mice (C57BL/6; n = 5) failed to regrow the hairs.
The treatments stopped hair regrowth in mice.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Anti-wrinkle effect of bone morphogenetic protein receptor 1a-extracellular domain (BMPR1a-ECD)
BMPR1a-ECD reduces wrinkles much more effectively than retinoic acid.
research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
research miR‐218‐5p regulates skin and hair follicle development through Wnt/β‐catenin signaling pathway by targeting SFRP2
miR-218-5p helps skin and hair growth by targeting SFRP2 and activating a specific signaling pathway.
research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research An Expert System for Clinical Risk Assessment of Polycystic Ovary Syndrome under Uncertainty
The document concludes that the new expert system can assess the risk of PCOS effectively despite uncertainties in diagnosis.
research The ITGB6 gene: its role in experimental and clinical biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research Coexistence of a Basal Cell Carcinoma and Leiomyosarcoma
A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.