Results 31 to 40 of about 57,297 (238)
Balkan Journal of Medical Genetics, 2017 The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was
Wang B +7 more
doaj +1 more source
Molecular Cytogenetics, 2020 Background Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of ...
Li Gao +11 more
doaj +1 more source
Driven translocation of a polymer: role of pore friction and crowding
, 2014 Force-driven translocation of a macromolecule through a nanopore is investigated by taking into account the monomer-pore friction as well as the "crowding" of monomers on the {\it trans} - side of the membrane which counterbalance the driving force ...
Dubbeldam, Johan L. A. +2 more
core +1 more source
International Medical Case Reports Journal, 2023 Koh Nagata, Takako Shimada, Chiaki Eishi, Masaki Nishi, Toru Murakami, Kazuaki Ohashi, Itsuki Kajimura, Kiyonori Miura Obstetrics and Gynecology, Nagasaki University Hospital, Nagasaki, JapanCorrespondence: Koh Nagata, Obstetrics and Gynecology, Nagasaki
Nagata K +7 more
doaj
From omics to AI—mapping the pathogenic pathways in type 2 diabetes
FEBS Letters, EarlyView.Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan +2 more
wiley +1 more source
Active elastohydrodynamics of vesicles in narrow, blind constrictions [PDF]
, 2017 Fluid-resistance limited transport of vesicles through narrow constrictions is a recurring theme in many biological and engineering applications. Inspired by the motor-driven movement of soft membrane-bound vesicles into closed neuronal dendritic spines,
Fai, Thomas G. +4 more
core +4 more sources
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
Molecular Cytogenetics, 2019 Background Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the same time, these
Olga Tšuiko +6 more
doaj +1 more source
Molecular Cytogenetics, 2021 Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang +5 more
doaj +1 more source
FEBS Letters, EarlyView.Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile +8 more
wiley +1 more source
A fixed combination of probiotics and herbal extracts attenuates intestinal barrier dysfunction from inflammatory stress in an in vitro model using Caco-2 cells. [PDF]
, 2019 Background: Inflammatory Bowel Diseases (IBD), are considered a growing global disease, with about ten million people being affected worldwide. Maintenance of intestinal barrier integrity is crucial for preventing IBD onset and exacerbations. Some recent
Biagi, M +8 more
core +1 more source