Results 161 to 170 of about 1,573,429 (399)

A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes.

open access: yesProceedings of the National Academy of Sciences of the United States of America, 1988
R. Moyzis   +8 more
semanticscholar   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun   +95 more
wiley   +1 more source

Structural variation of chromosomes in autism spectrum disorder.

open access: yesAmerican Journal of Human Genetics, 2008
C. Marshall   +34 more
semanticscholar   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou   +12 more
wiley   +1 more source

Identidad de la rana austral chilena Eupsophus coppingeri (Amphibia, Anura, Neobatrachia): evidencias morfológicas, cromosómicas y moleculares Identity of the austral Chilean frog Eupsophus coppingeri (Amphibia, Anura, Neobatrachia): morphological, chromosomic and molecular evidences

open access: yesRevista Chilena de Historia Natural, 2008
Análisis comparativos que incluyen: morfología externa de adultos y larvas, osteología, cromosomas y secuencias del gen mitocondrial citocromo b muestran que la rana austral chilena Eupsophus coppingeri (Günther 1881) es una especie del género Alsodes ...
J. RAMÓN FORMAS   +2 more
doaj  

Mechanical Forces, Nucleus, Chromosomes, and Chromatin

open access: yesBiomolecules
Individual cells and cells within the tissues and organs constantly face mechanical challenges, such as tension, compression, strain, shear stress, and the rigidity of cellular and extracellular surroundings. Besides the external mechanical forces, cells
Malgorzata Kloc, Jarek Wosik
doaj   +1 more source

Spatial organization of chromatin domains and compartments in single chromosomes

open access: yesScience, 2016
Siyuan S Wang   +6 more
semanticscholar   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow   +6 more
wiley   +1 more source

Carbon Nanodots as a Red Emissive Fluorescent Probe for the Super‐Resolution Microscopy of DNA Dynamics during Paclitaxel Treatment

open access: yesSmall Structures
Paclitaxel is a commonly used frontline chemotherapeutic drug for cancer treatment. It is known to be functional by arresting the microtubule disassembly during mitosis.
Richa Garg   +5 more
doaj   +1 more source

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