Results 61 to 70 of about 148,643 (304)

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage [PDF]

open access: yes, 2018
Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before ...
Bernardini, Laura   +12 more
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

open access: yesAdvanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su   +10 more
wiley   +1 more source

The Effect of X-Rays on Cytological Traits of Tuta absoluta (Lepidoptera: Gelechiidae) [PDF]

open access: yes, 2016
The tomato leafminer, Tuta absoluta (Meyrick) (Lepidoptera: Gelechiidae) is one of the most important pests of tomato. With the purpose of developing environmentally friendly control tactics such as the inherited sterility (IS) technique against this ...
Cagnotti, Cynthia Lorena   +5 more
core   +1 more source

Pneumocystis carinii karyotypes [PDF]

open access: yesJournal of Clinical Microbiology, 1990
Pulsed-field gel electrophoresis techniques were used to examine the chromosomes of Pneumocystis carinii isolated from laboratory rats and two human subjects. P. carinii organisms isolated from each of four rat colonies and from two patients each produced a distinct band pattern, but in all cases the bands ranged in size from 300 to 700 kilobase pairs.
S T, Hong   +5 more
openaire   +2 more sources

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

open access: yesAdvanced Science, EarlyView.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim   +12 more
wiley   +1 more source

FISH-aimed karyotype analysis in Aconitum subgen : aconitum reveals excessive rDNA sites in tetraploid taxa [PDF]

open access: yes, 2018
The location of 5S and 35S rDNA sequences in chromosomes of four Aconitum subsp. Aconitum species was analyzed after fluorescence in situ hybridization (FISH). Both in diploids (2n = 2x = 16; Aconitum variegatum, A. degenii) and tetraploids (2n = 4× = 32;
Grabowska-Joachimiak, Aleksandra   +4 more
core   +2 more sources

Comparative Oligo‐FISH Mapping Illuminates Chromosomal Evolution Among Rutaceae Species Diverged Over 50 Million Years

open access: yesAdvanced Science, EarlyView.
Oligonucleotide‐based fluorescence in situ hybridization probes were developed in the model citrus species Citrus maxima. These probes were applied to comparative karyotyping across 14 species in the Rutaceae family. This analysis revealed chromosomal evolution in lineages that diverged from Citrus nearly 52 million years ago.
Li He   +9 more
wiley   +1 more source

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

open access: yesAdvanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei   +12 more
wiley   +1 more source

Remote Magnetomechanical Neuromodulation Uncovers Therapeutic Mechanisms for Alleviating Parkinsonian Symptoms in Freely Moving Mice

open access: yesAdvanced Science, EarlyView.
Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters   +12 more
wiley   +1 more source

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