Results 91 to 100 of about 1,078,812 (267)
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
, 2010 This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.The nucleus of mammalian cells has been proven to be highly organised.
Amira, Manelle
core
Chromosome segregation impacts on cell growth and division site selection in Corynebacterium glutamicum. [PDF]
, 2013 Spatial and temporal regulation of bacterial cell division is imperative for the production of viable offspring. In many rod-shaped bacteria, regulatory systems such as the Min system and nucleoid occlusion ensure the high fidelity of midcell divisome ...
Marc Bramkamp +11 more
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
Prokaryotic ParA–ParB–parS system links bacterial chromosome segregation with the cell cycle [PDF]
, 2012 While the essential role of episomal par loci in plasmid DNA partitioning has long been appreciated, the function of chromosomally encoded par loci is less clear. The chromosomal parA–parB genes are conserved throughout the bacterial kingdom and encode
Mierzejewska, Jolanta +3 more
core +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
, 2013 To date the knowledge of repeated elements in the snake genome is scarce and mostly limited to various satellite and microsatellite sequences, found in species belonging to different taxonomic groups.
MEZZASALMA, MARCELLO +4 more
core
Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities
Advanced Science, EarlyView.ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal +3 more
wiley +1 more source
Advanced Science, EarlyView.Nuclear metabolism oscillates during cell cycle progression. Quantitative chromatome proteomics and imaging reveal phase‐specific dynamics of PIP5K1A and nuclear PIP2, linking phosphatidylinositol metabolism to histone methylation. This work identifies nuclear lipid metabolism as a previously unrecognized regulatory axis coordinating chromatin ...
Antoni Gañez‐Zapater +13 more
wiley +1 more source