Results 101 to 110 of about 198,084 (294)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
Electro-acoustic behavior of the mitotic spindle: a semi-classical coarse-grained model.
PLoS ONE, 2014 The regulation of chromosome separation during mitosis is not fully understood yet. Microtubules forming mitotic spindles are targets of treatment strategies which are aimed at (i) the triggering of the apoptosis or (ii) the interruption of uncontrolled ...
Daniel Havelka +3 more
doaj +1 more source
In Vivo Nb4C3Tx MXene‐Assisted Photothermal Therapy of Melanoma in Mice
Advanced NanoBiomed Research, EarlyView.Nb4C3Tx MXene converts pulsed 1064 nm irradiation into localized heat, producing concentration‐ and time‐dependent melanoma cell killing in vitro and suppressing tumor growth in mice. Histology reveals extensive tumor damage, macrophage‐associated material clearance, and no detectable persistent deposits in examined visceral organs, supporting Nb4C3Tx ...
Anton Roshchupkin +22 more
wiley +1 more source
Distinct Molecular Pathways Supporting Sjögren Disease Clusters and Disease Progression
Arthritis &Rheumatology, EarlyView.Objective Sjögren disease (SjD) is a heterogeneous autoimmune disease. We aimed to investigate blood transcriptomic signatures and disease progression among three recently defined clusters of patients with SjD: (1) B cell active disease with low symptom burden (BALS), (2) high systemic activity (HSA), and (3) low systemic activity with high symptom ...
Sacha E. Silva‐Saffar +6 more
wiley +1 more source
Ect2/Pbl Acts via Rho and Polarity Proteins to Direct the Assembly of an Isotropic Actomyosin Cortex upon Mitotic Entry. [PDF]
, 2015 Entry into mitosis is accompanied by profound changes in cortical actomyosin organization. Here, we delineate a pathway downstream of the RhoGEF Pbl/Ect2 that directs this process in a model epithelium.
Rosa, André +7 more
core +1 more source
Microtubule Destabilizing Kinesins: A Historical Perspective and Thoughts for the Future
Cytoskeleton, EarlyView.ABSTRACT The microtubule cytoskeleton plays critical roles in multiple cellular processes such as mitotic spindle assembly and chromosome segregation. Cells contain a number of microtubule‐associated proteins that regulate microtubule dynamics both temporally and spatially in cells. The microtubule depolymerizing kinesins include members of the Kinesin‐
Claire E. Walczak
wiley +1 more source
Assembly and Maintenance of Myofibrils in the Heart
Cytoskeleton, EarlyView.ABSTRACT The assembly of actin and myosin to the paracrystalline arrangement of myofibrils in striated muscle, that is, heart and skeletal, has puzzled many a cell biologist. Different models, based on cultured cardiomyocytes, were proposed for the last 30 years to explain the sequence of events.
Elisabeth Ehler
wiley +1 more source
Scientific Reports, 2018 Precise mitotic spindle orientation is essential for both cell fate and tissue organization while defects in this process are associated with tumorigenesis and other diseases.
Barbara Vodicska +3 more
doaj +1 more source
eLife, 2016 The spindle position checkpoint (SPOC) is a spindle pole body (SPB, equivalent of mammalian centrosome) associated surveillance mechanism that halts mitotic exit upon spindle mis-orientation.
Yuliya Gryaznova +4 more
doaj +1 more source