Results 311 to 320 of about 338,049 (387)

The Impact of Polyploid Giant Cancer Cells: The Root of Stress Resilience

open access: yesCancer Science, EarlyView.
Among the diverse characteristics of polyploid giant cancer cells (PGCCs) observed in various contexts, stress resilience is one of their key features, enabling survival and adaptation under harsh conditions. This review discusses the unique stress tolerance mechanisms of PGCCs and their implications for cancer progression, therapy resistance, and ...
Yuta Ogawa   +2 more
wiley   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

open access: yesClinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam   +9 more
wiley   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

open access: yesClinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer   +4 more
wiley   +1 more source

Loss of 18q Alters TGFβ Signalling Affecting Anteroposterior Neuroectodermal Fate in Human Embryonic Stem Cells

open access: yesCell Proliferation, EarlyView.
hESCsdel18q exhibit delayed and impaired anterior neuroectoderm induction, leading to deficient RPE specification. hESCsdel18q lines showed dysregulation of TGFβ signalling, and endogenous overactivation of activin/nodal/TGFβ in hESCsdel18q leads to improper anterior/posterior neuroectodermal fate commitments.
Yingnan Lei   +9 more
wiley   +1 more source

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