Results 51 to 60 of about 103,499 (299)
Molecular Genetics & Genomic Medicine, 2020 Background Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants.
Ying Dai +4 more
doaj +1 more source
FEBS Letters, EarlyView.Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho +3 more
wiley +1 more source
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
A survey of chromosome anomalies in Malta [PDF]
, 1989 433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core
, 2015 Many eukaryotic cells, including Dictyostelium discoideum (Dicty), neutrophils and other cells of the immune system, can detect and reliably orient themselves in chemoattractant gradients.
Cheng, Yougan, Othmer, Hans
core +3 more sources
Tracking elusive cargo: Illuminating spatio-temporal type 3 effector protein dynamics using reporters [PDF]
, 2017 Type 3 secretion systems (T3SS) form an integral part of the arsenal of many pathogenic bacteria. These injection machines, together with their cargo of subversive effector proteins are capable of manipulating the cellular environment of the host in ...
Connolly, James P.R. +2 more
core +1 more source
Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
FEBS Letters, EarlyView.This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes +3 more
wiley +1 more source
Taiwanese Journal of Obstetrics & GynecologyGenetic counseling of mosaicism for balanced translocation with a normal cell line at amniocentesis is not difficult because most of the reported cases have normal phenotypes.
Chih-Ping Chen
doaj +1 more source
A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure [PDF]
, 2017 Balanced complex chromosomal rearrangements are very rare events in the human population. Translocations involving three or more chromosomes frequently lead to a severe reproductive impairment secondary to meiotic disturbance in males and to chromosomal ...
Blouin, J.L. +5 more
core
FEBS Letters, EarlyView.In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai +9 more
wiley +1 more source