HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B
J Kapr, I Scharkin, H Ramachandran… - Cellular and Molecular …, 2024 - Springer
Abstract Cockayne Syndrome B (CSB) is a hereditary multiorgan syndrome which—through
largely unknown mechanisms—can affect the brain where it clinically presents with …
largely unknown mechanisms—can affect the brain where it clinically presents with …
Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging
K Zayoud, A Chikhaoui, I Kraoua, A Tebourbi, D Najjar… - Cells, 2024 - mdpi.com
Cockayne syndrome (CS) is a rare autosomal recessive disorder that affects the DNA repair
process. It is a progeroid syndrome predisposing patients to accelerated aging and to …
process. It is a progeroid syndrome predisposing patients to accelerated aging and to …
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family
Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly
affecting the cerebellum and manifest as movement disorders in children and young adults …
affecting the cerebellum and manifest as movement disorders in children and young adults …
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically
subdivided into three forms and characterized by a clinical spectrum without a clear …
subdivided into three forms and characterized by a clinical spectrum without a clear …
[HTML][HTML] Supplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses
A Chikhaoui, K Zayoud, I Kraoua… - Aging (Albany …, 2024 - pmc.ncbi.nlm.nih.gov
Cockayne syndrome (CS) is a segmental progeroid syndrome characterized by defects in
the DNA excision repair pathway, predisposing to neurodegenerative manifestations. It is a …
the DNA excision repair pathway, predisposing to neurodegenerative manifestations. It is a …
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5
K Yamoto, K Yamada, K Shimizu… - … Genetics & Genomic …, 2024 - Wiley Online Library
ABSTRACT Background Uniparental isodisomy (UPiD) refers to a condition, in which both
homologous chromosomes are inherited from only one parental homolog, which can result …
homologous chromosomes are inherited from only one parental homolog, which can result …
[HTML][HTML] Прогероидный синдром Коккейна
АЛ Кунгурцева, АВ Витебская - Вопросы современной …, 2024 - cyberleninka.ru
Синдром Коккейна—редкое генетическое заболевание из группы синдромов
преждевременного старения, связанное с нарушением репарации ДНК. Синдром …
преждевременного старения, связанное с нарушением репарации ДНК. Синдром …
Progeroide Syndrome
K Koschitzki, I Ivanova, M Berneburg - Die Dermatologie, 2023 - Springer
Progeroide Syndrome (PS) sind durch das vorzeitige Auftreten von altersbedingten
Symptomen und Krankheiten gekennzeichnet. PSs sind klinisch heterogen und …
Symptomen und Krankheiten gekennzeichnet. PSs sind klinisch heterogen und …
[PDF][PDF] A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. Cells 2022, 11, 3090
Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly
affecting the cerebellum and manifest as movement disorders in children and young adults …
affecting the cerebellum and manifest as movement disorders in children and young adults …
ERCC8 related Cockayne syndrome type-1: A rare entity diagnosed in a Turkish boy: ERCC8 related Cockayne syndrome type-1
Abstract Cockayne syndrome (CS, OMIM# 216400 and OMIM# 133540) is a rare,
progressive, multisystemic disorder that results in premature aging and cachectic dwarfism …
progressive, multisystemic disorder that results in premature aging and cachectic dwarfism …