Results 81 to 90 of about 79,532 (296)
Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review [PDF]
, 2021 Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more ...
Silvia Dossena +3 more
core +1 more source
Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system
FEBS Letters, EarlyView.Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley +1 more source
Journal of Rehabilitation, 2005 It has been estimated that approximately one in 1000 live births suffer from profound deafness, and greater than 50% of this group is genetic etiology.
Hossein Najm-Abadi, Kimia Kahrizi
doaj
Diversity and complexity in neural organoids
FEBS Letters, EarlyView.Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley +1 more source
Genetic factors in non-syndromic congenital heart malformations [PDF]
, 2010 The genetic defect in most patients with non-syndromic congenital heart malformations (CHM) is unknown, although more than 40 different genes have already been implicated.
Wessels, Marja, Willems, PJ
core +1 more source
FEBS Letters, EarlyView.Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil +4 more
wiley +1 more source
Comparison of characteristic features and local recurrence in syndromic versus non-syndromic multifocal non-ossifying fibroma [PDF]
, 2021 Background: Multiple non-ossifying fibromas (MNOF) could be presented with other extraskeletal anomalies (syndromic) or not (non-syndromic). In this study, we aimed to compare characteristic features and local recurrence between symptomatic syndromic and
Al-Baseesee, H.H. +5 more
core
FEBS Letters, EarlyView.Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley +1 more source
Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases [PDF]
, 2008 Background: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velocardiofacial (VCFS) syndromes. The deletion of chromosome 22q11 has also been demonstrated in sporadic or familial cases of TOF.
PEREIRA, A. C. +5 more
core +1 more source
A Case of Non-syndromic Craniosynostosis
International Journal of Human and Health Sciences (IJHHS), 2020 Craniosynostosis refers to skull deformities secondary to the premature closure of cranial suture. Isolated or multiple sutures craniosynostosis is more common than syndromic craniosynostosis. Deformities with synostosis are stigmatizing, and this provides a strong aesthetic indication for surgical correction in the non-syndromic group of patients.
Devananthan Ilenghoven +3 more
openaire +2 more sources