Results 171 to 180 of about 1,033,685 (362)

COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”

İstanbul Tıp Fakültesi Dergisi
Dear Editor, We have read the article entitled “A partial trisomy 9 case with dicentric chromosome due to the adjacent-2 segregation of maternal reciprocal translocation” by Urtekin et al.
Juan Pablo Meza-espınoza, Verónica Judith Pıcos-cárdenas, Evelia Leal-ugarte   +2 more
doaj   +1 more source

Chromosomes in Bacillus subtilis Spores and Their Segregation During Germination [PDF]

, 1968
Hiroshi Yoshikawa
openalex   +1 more source

Finding the middle ground: how kinetochores power chromosome congression [PDF]

, 2018
Genomic stability requires error-free chromosome segregation during mitosis. Chromosome congression to the spindle equator precedes chromosome segregation in anaphase and is a hallmark of metazoan mitosis.
Kops, Geert, Meraldi, Patrick, Saurin, Adrian   +2 more
core  

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

SMC5/6 is required for replication fork stability and faithful chromosome segregation during neurogenesis

, 2020
Alisa Atkins, Michelle J. Xu, Maggie Li, Nathaniel Rogers, Marina V. Pryzhkova, Philip W. Jordan   +5 more
openalex   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Essential role of autoactivation circuitry on Aurora B-mediated H2AX-pS121 in mitosis

Nature Communications, 2016
Aurora B activation at the centromere is critical for faithful chromosome segregation in mammals. Here the authors show that Aurora B-mediated phosphorylation of histone H2AX at serine 121 is essential for Aurora B auto-activation circuitry at ...
Midori Shimada, Takahiro Goshima, Hiromi Matsuo, Yoshikazu Johmura, Mayumi Haruta, Kazuhiro Murata, Hiromitsu Tanaka, Masahito Ikawa, Keiko Nakanishi, Makoto Nakanishi   +9 more
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

THE USE OF INTERCHANGES INVOLVING CHROMOSOME 6 IN MAIZE IN STUDIES OF CHROMOSOME SEGREGATION [PDF]

, 1961
Mahmoud Ibrahim
openalex   +1 more source

Excess crossovers impede faithful meiotic chromosome segregation in C. elegans [PDF]

, 2020
Jeremy A. Hollis, Marissa L. Glover, Aleesa J. Schlientz, Cori K. Cahoon, Bruce Bowerman, Sarah M. Wignall, Diana E. Libuda   +6 more
openalex   +1 more source