Results 11 to 20 of about 218,782 (270)
Transcription-induced active forces suppress chromatin motion [PDF]
Proc. Natl. Acad. Sci. 121, e2307309121 (2024), 2022 The organization of interphase chromosomes in a number of species is starting to emerge thanks to advances in a variety of experimental techniques. However, much less is known about the dynamics, especially in the functional states of chromatin. Some experiments have shown that the motility of individual loci in human interphase chromosome decreases ...
arxiv +1 more source
Nature Communications, 2022 Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.
Elsa Leitão +36 more
doaj +1 more source
iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
PLoS ONE, 2022 Trisomy 21, 18, and 13 are the major autosomal aneuploidy disorders in humans. They are mostly derived from chromosome non-disjunction in maternal meiosis, and the extra trisomic chromosome can cause several congenital malformations. Various genes on the
Silvia Natsuko Akutsu +6 more
doaj +2 more sources
XYY syndrome: a 13-year-old boy with tall stature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan ...
Won Ha Jo +6 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2023 Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases.
Laura Pignata +13 more
doaj +1 more source
On the mechanisms of the occurrence of autism spectrum disorders: a family case report
Аутизм и нарушение развития, 2020 Currently, more than 1000 genes described in which mutations are observed in autism spectrum disorders. Neurobiological predictors have been found to presume these abnormalities in early postnatal ontogenesis.
S.A. Tyushkevich +5 more
doaj +1 more source
Topological and non-topological mechanisms of loops formation in chromosomes: effects on the contact probability [PDF]
, 2023 Chromosomes are crumpled polymer chains further folded into a sequence of stochastic loops via loop extrusion. While extrusion has been verified experimentally, the particular means by which the extruding complexes bind DNA polymer remains controversial. Here we analyze the behaviour of the contact probability function for a crumpled polymer with loops
arxiv +1 more source
A CASE OF DELETION OF CHROMOSOME 14q23.3 [PDF]
Euromediterranean Biomedical Journal, 2012 An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impairments in social interaction and communication.
Nadia Imbrigiotta
doaj +1 more source
Chromosome Segmentation Analysis Using Image Processing Techniques and Autoencoders [PDF]
arXiv, 2022 Chromosome analysis and identification from metaphase images is a critical part of cytogenetics based medical diagnosis. It is mainly used for identifying constitutional, prenatal and acquired abnormalities in the diagnosis of genetic diseases and disorders.
arxiv
AutoKary2022: A Large-Scale Densely Annotated Dataset for Chromosome Instance Segmentation [PDF]
arXiv, 2023 Automated chromosome instance segmentation from metaphase cell microscopic images is critical for the diagnosis of chromosomal disorders (i.e., karyotype analysis). However, it is still a challenging task due to lacking of densely annotated datasets and the complicated morphologies of chromosomes, e.g., dense distribution, arbitrary orientations, and ...
arxiv