Paradox lost: Concerted evolution and centromeric instability
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DOI: 10.1002/bies.202200023
Abstract: Homologous centromeres compete for segregation to the secondary oocyte nucleus at female meiosis I. Centromeric repeats also compete with each other to populate centromeres in mitotic cells of the germline and have become adapted to… read more here.
Keywords: centromeric instability; lost concerted; concerted evolution; paradox lost ... See more keywords
The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00704-6
Abstract: To the Editor: Immunodeficiency, centromeric instability, facial anomalies syndrome (ICF) is a rare autosomal recessive disorder and is one of the few heritable human diseases caused by mutations in a DNA methyltransferase [1]. The majority… read more here.
Keywords: variants dnmt3b; immunodeficiency centromeric; centromeric instability; instability facial ... See more keywords
Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome Type 1
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-021-00984-x
Abstract: To the Editor: Immunodeficiency, centromeric instability and facial anomalies syndrome (ICF) is a rare autosomal recessive condition (OMIM 242860) characterized by pericentromeric chromosome instability and a heterogeneous clinical presentation of recurrent infections, neurologic abnormalities, and… read more here.
Keywords: immunodeficiency; immunodeficiency centromeric; centromeric instability; instability facial ... See more keywords
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with distinctive genome-wide DNA hypomethylation.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac291
Abstract: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is in most cases-caused by mutations in either DNMT3B, ZBTB24, CDCA7, or HELLS. However, the causative genes of a few ICF patients remain unknown. We, herein, identified… read more here.
Keywords: icf syndrome; methylation; centromeric instability; immunodeficiency centromeric ... See more keywords
Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2017.00773
Abstract: Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood. Up-to-date treatment regimens consist… read more here.
Keywords: immunodeficiency; facial anomaly; immunodeficiency centromeric; centromeric instability ... See more keywords