نتایج جستجو برای: rare mutations
تعداد نتایج: 402573 فیلتر نتایج به سال:
The main goal is to improve treatment outcomes of disseminated inoperable thyroid cancer through a personalized choice targeted agents. Considering gene mutations in drug will further the survival patients with rare mutations. Despite small sample patients, mutation detection, regardless localization, and basket studies allow future results be obtained much faster than dozen years use these thi...
Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report three novel pathogenic varia...
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
Background: XLMTM is a rare, currently untreated, life-threatening congenital myopathy caused by mutations in the MTM1 gene, with profound muscle weakness and impairment of motor development, respiratory failure, chronic ventilator dependency.
Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...
introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...
We derive anomaly constraints for Abelian and non-Abelian discrete symmetries using the path integral approach. We survey anomalies of discrete symmetries in heterotic orbifolds and find a new relation between such anomalies and the socalled ‘anomalous’ U(1).
We formulate the effective field theory of a D-particle on orbifolds of T 4 by a cyclic group as a gauge theory in a V -bundle over the dual orbifold. We argue that this theory admits Fayet-Iliopoulos terms analogous to those present in the case of noncompact orbifolds. In the n = 2 case, we present some evidence that turning on such terms resolves the orbifold singularities and may lead to a K...
Retinoblastoma is a rare type of eye cancer that usually occurs in early childhood, usually before the age of five. This type of cancer occurs in the retina, the light-sensitive tissue behind the eye that recognizes light and color. It is the most common type of eye cancer in children. One-third of all retinoblastomas are inherited, meaning that mutations in the RB1 gene are present in all cell...
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