The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes

P Li, B Dupont, Q Hu, M Crimi, Y Shen… - Human Genetics and …, 2022 - cell.com
Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of
1/50,000 and an annual occurrence of 2,800 patients globally. Over the past 60 years …

Complex biology of constitutional ring chromosomes structure and (in) stability revealed by somatic cell reprogramming

TV Nikitina, AA Kashevarova, MM Gridina… - Scientific reports, 2021 - nature.com
Human ring chromosomes are often unstable during mitosis, and daughter cells can be
partially or completely aneuploid. We studied the mitotic stability of four ring chromosomes …

Chromosomal aberrations after induced pluripotent stem cells reprogramming

IM Vaz, T Borgonovo, TH Kasai-Brunswick… - … and Molecular Biology, 2021 - SciELO Brasil
Induced pluripotent stem cells (iPSCs) are generated from adult cells that have been
reprogrammed to pluripotency. However, in vitro cultivation and genetic reprogramming …

Generation of induced pluripotent stem cell line iTAF15Xsk4 from fibroblasts of a patient with microdeletion at Xq24

IE Pristyazhnyuk, NI Meshcheryakov… - Russian Journal of …, 2023 - Springer
Differentiation of induced pluripotent stem cells (iPSCs) from patients and healthy donors
allows in vitro study of genetic disorders. The authors have previously reported a clinical …

Chromosomal instability and karyotype correction in human induced pluripotent stem cells

TV Nikitina, AA Kashevarova, IN Lebedev - Russian Journal of Genetics, 2019 - Springer
Human induced pluripotent stem cells (iPSCs) are a promising source of cells for
regenerative medicine, study of the pathogenesis of various diseases, screening of …

Historical Perspective of Human Ring Chromosomes

P Li, T Liehr - Human Ring Chromosomes: A Practical Guide for …, 2024 - Springer
Human ring chromosomes (RCs) are a rare type of chromosomal structural abnormality.
Current cytogenomic analysis revealed heterogeneous genomic rearrangements in the ring …

Generation of Three iPSC Lines from Fibroblasts of a Patient with Cohen Syndrome

IE Pristyazhnyuk, JM Minina, VY Voinova… - Russian Journal of …, 2024 - Springer
Cohen syndrome is a rare autosomal recessive genetic disorder characterized by
developmental delay, intellectual disability, microcephaly, neutropenia, dysmorphism …

iPSC Models of Ring Chromosomes, Genome Editing, and Chromosome Therapy

TV Nikitina, IN Lebedev - Human Ring Chromosomes: A Practical Guide …, 2024 - Springer
Induced pluripotent stem cells (iPSCs) are beneficial for studying of chromosomal diseases,
including ring chromosomes (RCs), because iPSCs can be differentiated to various cell …

Ring Chromosome 22

K Phelan - Human Ring Chromosomes: A Practical Guide for …, 2024 - Springer
About 250 cases of ring chromosome 22 (RC22) have been reported in the literature.
Approximately 90% of RC22 cases have a deletion of the terminal band, 22q13, compatible …

[PDF][PDF] and Thomas Liehr 8

P Li, B Dupont, Q Hu, M Crimi, Y Shen, I Lebedev - 2022 - researchgate.net
Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of
1/50,000 and an annual occurrence of 2,800 patients globally. Over the past 60 years …