Results 71 to 80 of about 379,249 (335)
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, EarlyView.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017 Background: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.Objective: to describe the results ...
Enelis Reyes Reyes +4 more
doaj
FEBS Open Bio, EarlyView.RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz +6 more
wiley +1 more source
Genetic issues in the diagnosis of dystonias [PDF]
, 2013 Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core +1 more source
FEBS Open Bio, EarlyView.dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon +6 more
wiley +1 more source
Marcadores ultrasonográficos como signos predictivos de cromosomopatías en el período fetal precoz
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 Fundamento: los estudios ecográficos se utilizan en el diagnóstico fetal precoz. Mediante marcadores ultrasonográficos se puede determinar un número importante de defectos congénitos.Objetivo: describir la utilidad de los marcadores ultrasonográficos en ...
Sandor Varela Iraola +4 more
doaj
Molecular Cytogenetics, 2009 Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15.
Liu Dahai +6 more
doaj +1 more source
Chromosomal abnormalities and mental disorders [PDF]
Postgraduate Medical Journal, 1972 THE almost constant concomitance of severe intellectual impairment with autosomal chromosome imbalance is well known. Mental defect is a more variable manifestation in the presence of sex chromosome anomalies. In both categories, however, the impairment of cognitive function has been the centre ofmuch attention.
openaire +2 more sources
HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein
FEBS Open Bio, EarlyView.Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley +1 more source
Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature [PDF]
, 2023 Luca Soliani +4 more
openalex +1 more source