Results 91 to 100 of about 461,910 (213)
Robertsonian translocation is a subtype of balanced translocation involving two acrocentric chromosomes. Individuals who are carrier of this abnormality are at increased risk of infertility or bad obstetric history.
Paresh Singhal +4 more
doaj +1 more source
Use of selpercatinib in a patient with RET-mutated non-small cell lung cancer: case report
Background. The use of the modern targeted drugs in patients with non-small-cell lung cancer (NSCLC) with certain somatic alterations (genetic alterations in EGFR, ALK, ROS1, BRAF, RET genes, etc.) provides a significant increase in overall and disease ...
A. M. Kazakov +3 more
doaj +1 more source
Abnormal Action Potentials Associated with the Shaker Complex Locus of Drosophila [PDF]
Intracellular recordings of action potentials were made from the cervical giant axon in Shaker (Sh) mutants and normal Drosophila. The mutants showed abnormally long delays in repolarization.
Ferrus, Alberto +2 more
core +1 more source
The Drosophila Inhibitor of Apoptosis (IAP) DIAP2 Is Dispensable for Cell Survival, Required for the Innate Immune Response to Gram-negative Bacterial Infection, and Can Be Negatively Regulated by the Reaper/Hid/Grim Family of IAP-binding Apoptosis Inducers [PDF]
Many inhibitor of apoptosis (IAP) family proteins inhibit apoptosis. IAPs contain N-terminal baculovirus IAP repeat domains and a C-terminal RING ubiquitin ligase domain.
Chen, Chun Hong +8 more
core
ABSTRACT Two new techniques are described for genetic mapping of reciprocal translocations in A. nidulans, which can be used to locate centromeres and meiotically unlinked markers. They both make use of unbalanced disomics from heterozygous translocation crosses. These are mainly hyperhaploids of two classes: either typical-looking n + 1
openaire +2 more sources
Beyond self-eating: The control of nonautophagic functions and signaling pathways by autophagy-related proteins. [PDF]
The identification of conserved autophagy-related proteins (ATGs) that mediate bulk degradation of cytosolic material laid the foundation for breakthroughs linking autophagy to a litany of physiological processes and disease conditions.
Cadwell, Ken, Debnath, Jayanta
core +1 more source
Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]
No abstract ...
Ferguson-Smith, Malcolm
core
A survey of chromosome anomalies in Malta [PDF]
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
Introduction This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Zhiping Zhang +10 more
doaj +1 more source
A Window on the Genetics of Human Speech: The FOXP2 Gene [PDF]
The development of human speech seems to be a species-specific and genetically determined capacity and is considered an extremely important step in the rise of modern humans, human culture and civilisation.
Barabás, Katalin +3 more
core

