Results 211 to 220 of about 185,788 (293)

Compartmentalisation in cAMP signalling: A phase separation perspective

open access: yesBritish Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source

Mechanisms, Machinery, and Dynamics of Chromosome Segregation in Zea mays. [PDF]

open access: yesGenes (Basel)
Duffy ME   +6 more
europepmc   +1 more source

Molecular and Cell Biological Characterization of Patient‐Derived Head and Neck Squamous Carcinoma Cell Lines

open access: yesCancer Science, EarlyView.
Patient‐derived head and neck squamous cell carcinoma (HNSCC) cells were genomically and cytogenetically characterized, revealing actionable alterations and chromosomal instability. Targeted therapies suppressed growth according to EGFR amplification or PIK3CA mutation status.
Kazue Ito   +17 more
wiley   +1 more source

Cell cycle dependent methylation of Dam1 contributes to kinetochore integrity and faithful chromosome segregation. [PDF]

open access: yesPLoS Genet
Mishra PK   +11 more
europepmc   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

open access: yesClinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata   +3 more
wiley   +1 more source

Autophagy-related protein Atg11 is essential for microtubule-mediated chromosome segregation. [PDF]

open access: yesPLoS Biol
Reza MH   +7 more
europepmc   +1 more source

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

open access: yesClinical Genetics, EarlyView.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong   +20 more
wiley   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

open access: yesClinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji   +4 more
wiley   +1 more source

Microtubule poleward flux as a target for modifying chromosome segregation errors. [PDF]

open access: yesProc Natl Acad Sci U S A
Risteski P   +5 more
europepmc   +2 more sources

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