research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
Search
for
Sort by
Research
990-1000 / 1000+ results 
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Identification of an osteopontin-derived peptide that binds neuropilin-1 and activates vascular cells
FOL-026 peptide can help repair blood vessels and promote growth, offering potential treatment for vascular diseases.
research Cyclin-dependent kinase inhibitors, p21waf1/cip1 and p27kip1, are expressed site- and hair cycle-dependently in rat hair follicles
p21waf1/cip1 and p27kip1 help in hair follicle differentiation in rats.
research Arabidopsis retromer subunit AtVPS29 is involved in SLY1-mediated gibberellin signaling
AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.
research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse
Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
research Vitamin D receptor gene polymorphisms are not associated with alopecia areata
Vitamin D receptor gene variations are not linked to alopecia areata.
research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Certain genetic variants may increase the risk of developing PCOS.
research Molecular mechanism for transcriptional regulation of the parathyroid hormone gene by Epiprofin
Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.