3 citations,
July 2022 in “Brain and Behavior” This study investigates the pathogenesis of CARASIL using a mouse model with the HtrA1L364P mutation. Behavioral tests showed significant cognitive impairments in the mutant mice compared to wild-type mice (p < 0.001). Pathological analysis revealed structural abnormalities in brain arterioles, reduced synapses, thickened vessel walls, and other cellular anomalies. Molecular studies indicated increased mRNA and protein levels of TGF-β, Smad2, and Smad3 in the mutant mice's brains. The findings suggest that the TGF-β/Smad signaling pathway is abnormally upregulated in CARASIL, contributing to cognitive dysfunction and vascular damage. This model provides a valuable tool for exploring CARASIL pathogenesis and potential therapies.
1 citations,
September 2023 in “Frontiers in Genetics” This case report describes a 43-year-old female with a heterozygous mutation in the HTRA1 gene (905G>A, Arg302Gln) who exhibited all typical features of CARASIL, including baldness, recurrent ischemic strokes, lumbago, headache, and dementia, along with severe clinical symptoms and rapid progression. Despite heterozygous mutations usually being non-pathogenic or causing milder symptoms, this patient experienced significant cognitive decline, motor function loss, and was bedridden for over a year. The findings suggest that heterozygous mutations in HTRA1 can also result in typical CARASIL features, expanding the understanding of the disease.
51 citations,
October 2019 in “Cells” Baricitinib reduces inflammation and improves cell health in premature aging cells.
62 citations,
January 2000 in “Developmental dynamics” Notch-related genes play a key role in the development and cycling of hair follicles.
22 citations,
December 2014 in “Psychiatric Clinics of North America” Stress can worsen skin conditions and affect mental health, so doctors should include stress management in skin treatment.
2 citations,
July 2014 in “Irish Journal of Medical Science” The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
1 citations,
May 2002 in “British Journal of Dermatology” Hair loss caused by longer latent hair cycle and sudden miniaturization, not gradual follicle size reduction.
The document is a detailed guide on skin conditions and treatments for dermatologists.
May 2002 in “British Journal of Dermatology” A pregnant woman's skin condition improved after giving birth, possibly due to high estrogen levels during pregnancy.
May 2002 in “British Journal of Dermatology” Hair loss caused by longer latent hair cycle and sudden miniaturization, not gradual follicle size reduction.
10 citations,
November 2013 in “African Journal of Traditional Complementary and Alternative Medicines” Herbal oils from Cuscuta reflexa help with hair growth, dandruff, and hair fall.
8 citations,
October 2022 in “International Journal of Molecular Sciences” Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.