Results 221 to 230 of about 616,821 (255)

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Mechanical coordination between anaphase A and B drives asymmetric chromosome segregation

Dias Maia Henriques AM, Davies T, Dmitrieff S, Minc N, Canman JC, Dumont J, Maton G.   +6 more
europepmc   +1 more source

Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome. [PDF]

Nat Commun
Li Z, Yang W, Wu G, Chang TC, Cheng Z, Devidas M, Shago M, Carroll AJ, Heerema NA, Gastier-Foster JM, Wood BL, Sanclemente L, Raetz EA, Hunger SP, Loh ML, Feingold E, Rosser TC, Allen EG, Sherman SL, Rabin KR, Lupo PJ, Yang JJ.   +21 more
europepmc   +1 more source

Familial Co‐Aggregation of Neurodevelopmental Conditions and Childhood‐Onset Type 1 Diabetes

Acta Paediatrica, EarlyView.
ABSTRACT Aim Childhood‐onset Type 1 diabetes (T1D) is associated with neurodevelopmental conditions (NDCs). We examined whether this association extends to relatives and assessed phenotypic, genetic, and environmental correlations between T1D and NDCs.
Shengxin Liu, Gisele Magarotto Machado, Irzam Hardiansyah, Xinyue Gu, Jonas F. Ludvigsson, Paul Lichtenstein, Soffia Gudbjörnsdottir, Ebba Du Rietz, Brian D'Onofrio, Henrik Larsson, Mark J. Taylor, Ralf Kuja‐Halkola, Agnieszka Butwicka   +12 more
wiley   +1 more source

Repurposing a chromosome segregation ParB-CTPase fold into an ATPase toxin for contact-dependent growth inhibition in plant and animal pathogens

Kaljević J, Mundy JE, Stojilković B, Rejzek M, Oms T, Goormaghtigh F, McLean TC, Tran NT, Johnson KE, Medeiros AS, Sourjik V, Eltschkner S, Melderen Lv, Hocher A, Le TBK.   +14 more
europepmc   +1 more source

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

PLoS Genet
Mishra PK, Au WC, Choy JS, Castineira PG, Khawar A, Tessier C, Das S, Thorkell A, Thorpe PH, Yeh E, Bloom KS, Basrai MA.   +11 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

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

PLoS Biol
Reza MH, Aggarwal R, Verma J, Podh NK, Chowdhury R, Mehta G, Manjithaya R, Sanyal K.   +7 more
europepmc   +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