research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
Search
for
Sort by
Research
990-1000 / 1000+ results
research Analysis of Thymosin β4 and Vascular Endothelial Cell Growth Factor (VEGF) Expression in Normal Human Tissues Using Tissue Microarray
Thymosin β4 and VEGF are important for blood vessel formation in many organs.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Stepwise acquisition of unique epigenetic signatures during differentiation of tissue Treg cells
Tissue environment greatly affects the unique epigenetic makeup of regulatory T cells, which could impact autoimmune disease treatment.
research Decision letter: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for ion balance and proper plant cell function.
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research Vitamin D Receptor, UVR, and Skin Cancer: A Potential Protective Mechanism
Vitamin D receptor may help protect against UV-induced skin cancer.
research Pannexin 3 regulates skin development via Epiprofin
Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.