Results 51 to 60 of about 3,861,183 (367)
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 +3 more sources
Evolutionary interplay between viruses and R‐loops
FEBS Letters, EarlyView.Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi +4 more
wiley +1 more source
Oxidative Stress and Down Syndrome: A Systematic Review
AntioxidantsDown syndrome (DS), the most common human aneuploidy, is associated with oxidative stress, which contributes to morphological abnormalities, immune dysfunction, cognitive impairment and accelerated ageing.
Goran Slivšek +13 more
doaj +1 more source
On a break with the X: the role of repair of double-stranded DNA breaks in X-linked disease [PDF]
, 2012 The problem of managing free reactive DNA ends in eukaryotic cells has resulted in the development of a number of mechanisms in order to ensure that free ends are rendered non-reactive, or that the double-strand DNA breaks generating the free ends are ...
Cecceroni, Lucia +2 more
core +4 more sources
Molecular Oncology, EarlyView.B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez +17 more
wiley +1 more source
Chromosome errors in human eggs shape natural fertility over reproductive life span
Science, 2019 Understanding fertility in young and old Fertility in humans follows a U-curve, with low rates in both teenagers and women of advancing maternal age (mid-30s and above). Gruhn et al.
J. Gruhn +29 more
semanticscholar +1 more source
Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]
, 2019 ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele +9 more
core +1 more source
Molecular Oncology, EarlyView.The COMBAT classification system, developed through multi‐omics integration, stratifies adult patients with B‐cell acute lymphoblastic leukemia(B‐ALL) into three molecular subtypes with distinct surface antigen patterns, immune landscape, methylation patterns, biological pathways and prognosis.
Yang Song +11 more
wiley +1 more source
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders [PDF]
, 2004 Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births.
A Lernmark +57 more
core +2 more sources
Current trends in single‐cell RNA sequencing applications in diabetes mellitus
FEBS Open Bio, EarlyView.Single‐cell RNA sequencing is a powerful approach to decipher the cellular and molecular landscape at a single‐cell resolution. The rapid development of this technology has led to a wide range of applications, including the detection of cellular and molecular mechanisms and the identification and introduction of novel potential diagnostic and ...
Seyed Sajjad Zadian +6 more
wiley +1 more source