Results 161 to 170 of about 103,612 (258)

Mitotic Phosphorylation of Swi6/HP1 Regulates Its Chromatin Binding and Chromosome Segregation. [PDF]

FASEB J
Yoshimura Y, Hayashi A, Tanaka M, Suzuki-Matsubara M, Nakagawa R, Nishibuchi G, Tagami H, Oki M, Nakayama JI.   +8 more
europepmc   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Nucleosome interaction of the CPC secures centromeric chromatin integrity and chromosome segregation fidelity. [PDF]

EMBO J
Gireesh A, Abad MA, Nozawa RS, Sotelo-Parrilla P, Dury LC, Likhodeeva M, Wear M, Spanos C, Peralta CC, Rappsilber J, Hopfner KP, Wilson MD, Vanderlinden W, Hirota T, Jeyaprakash AA.   +14 more
europepmc   +1 more source

Chromosomal and immune dysregulation underlying granular mitosis in glioblastoma

Brain Pathology, EarlyView.
Granular mitosis (GM) morphology is linked to PI3K/PTEN pathway alterations, chromosomal disorganization, and impaired innate immunity. Cells exhibiting GM morphology are associated with localized immune responses within their immediate spatial microenvironment.
Rachel Barboza, Xuan Wang, August Lin, Eric Liu, Pramath Kakodkar, Yayuan Zhao, Quinn Le, Christina A. Castellani, Qi Zhang   +8 more
wiley   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

British 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

Tankyrase activity is essential for asymmetric division and chromosome segregation in oocyte meiosis. [PDF]

J Adv Res
Lu PS, Pan ZN, Pan WL, Zou YJ, Ma RJ, Zhang KH, Wang Y, Sun SC.   +7 more
europepmc   +1 more source

Targeting Cell Cycle Vulnerabilities in Cancers: Emerging Strategies for Therapeutic Development

Cancer Science, EarlyView.
Dysregulated cell cycle control often involves alternative compensatory pathways in cancers to maintain its robustness but provide unique targetable vulnerabilities. We overview recent insights on cancer‐specific vulnerabilities across the cell cycle and discuss how these can be used to develop new therapeutic strategies.
Nana Kamakura, Minji Jo, Motoko Takahashi, Toru Hirota   +3 more
wiley   +1 more source

Multinucleation in the Human Embryo's First Mitosis: Linking Spindle Geometry Defects, SAC Tolerance, Chromosome Segregation, and Nuclear Envelope Reassembly. [PDF]

Reprod Med Biol
Ono Y, Terada Y.
europepmc   +1 more source

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, EarlyView.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants

Clinical Genetics, EarlyView.
We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph, Esben Søndergaard, Sine Knorr, Jane Hagelskjær Knudsen, Søren Rittig, Jane Hvarregaard Christensen   +5 more
wiley   +1 more source