Results 31 to 40 of about 2,256,617 (260)

Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome. [PDF]

Mol Genet Genomic Med, 2023
Cockayne syndrome (CS, OMIM #133540, #216400) is a rare autosomal recessive disease involving multiple systems, typically characterized by microcephaly, premature aging, growth retardation, neurosensory abnormalities, and photosensitivity.
Wang X, Li Y, Zhao A, Wang Y, Cao Q, Pan C, Li M.   +6 more
europepmc   +2 more sources

Evaluation of Patients with Cockayne Syndrome

The Journal of Pediatric Academy
Cockayne syndrome (CS) is a rare, severe, genetic neurodegenerative disorder. To better understand the condition, this article aimed to discuss the clinical manifestations and prognosis of CS. This clinical study was a retrospective review of the medical
Hamit Acer, Gül Demet Kaya Özçora, Mehmet Canpolat, Muhammet Ensar Doğan, Zehra Filiz Kahraman, Sefer Kumandaş   +5 more
openalex   +4 more sources

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis? [PDF]

Aging Cell
Afonso-Reis R, Madeira CR, Brito DVC, Nóbrega C.   +3 more
europepmc   +3 more sources

A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause? [PDF]

Mol Syndromol
Bahap Y, Kayhan G.
europepmc   +3 more sources

Cockayne syndrome B protein is implicated in transcription and associated chromatin dynamics in homeostatic and genotoxic conditions. [PDF]

Aging Cell
Liakos A, Ntakou-Zamplara KZ, Angelova N, Konstantopoulos D, Synacheri AC, Spyropoulou Z, Tsarmaklis IA, Korrou-Karava D, Nikolopoulos G, Lavigne MD, Fousteri M.   +10 more
europepmc   +2 more sources

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Pediatr Neurol, 2023
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB.   +23 more
europepmc   +2 more sources

HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B. [PDF]

Cell Mol Life Sci
Cockayne Syndrome B (CSB) is a hereditary multiorgan syndrome which—through largely unknown mechanisms—can affect the brain where it clinically presents with microcephaly, intellectual disability and demyelination.
Kapr J, Scharkin I, Ramachandran H, Westhoff P, Pollet M, Dangeleit S, Brockerhoff G, Rossi A, Koch K, Krutmann J, Fritsche E.   +10 more
europepmc   +2 more sources

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants. [PDF]

Aging (Albany NY), 2022
Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic ERCC8 (CS-A) or ERCC6 (CS-B) variants.
Duong NT, Dinh TH, Möhl BS, Hintze S, Quynh DH, Ha DTT, Ngoc ND, Dung VC, Miyake N, Hai NV, Matsumoto N, Meinke P.   +11 more
europepmc   +2 more sources

Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report [PDF]

Revista Brasileira de Anestesiologia, 2020
Cockayne syndrome is an autosomal recessive multi-systemic disorder due to DNA repair failure. It was originally described in 1936 in children of small stature, retinal atrophy and deafness, characterized by dwarfism, cachexia, photosensitivity ...
Viviane Barrada Ribeiro, Leonardo Teixeira Ribeiro Alonso de Faria, Roberta de Lima Machado, Bruno Mendonça Barcellos, Marco Antonio Cardoso de Resende, Rogério Luiz da Rocha Videira   +5 more
doaj   +5 more sources

Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease [PDF]

Genetics and Molecular Biology, 2020
The striking and complex phenotype of Cockayne syndrome (CS) patients combines progeria-like features with developmental deficits. Since the establishment of the in vitro culture of skin fibroblasts derived from patients with CS in the 1970s, significant
Alexandre Teixeira Vessoni, Camila Chaves Coelho Guerra, Gustavo Satoru Kajitani, Lívia Luz Souza Nascimento, Camila García   +4 more
openalex   +2 more sources