Results 91 to 100 of about 461,910 (213)

The robertsonian translocation of ‘21/22’ in nonobstructive azoospermia: A rare case report from India

open access: yesJournal of Human Reproductive Sciences, 2019
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

open access: yesСибирский онкологический журнал
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]

open access: yes, 1981
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]

open access: yes, 2007
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  

RECIPROCAL TRANSLOCATIONS AND TRANSLOCATION DISOMICS OF ASPERGILLUS AND THEIR USE FOR GENETIC MAPPING

open access: yesGenetics, 1975
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]

open access: yes, 2017
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]

open access: yes, 2015
No abstract ...
Ferguson-Smith, Malcolm
core  

A survey of chromosome anomalies in Malta [PDF]

open access: yes, 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  

Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing

open access: yesMolecular Genetics & Genomic Medicine
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]

open access: yes, 2007
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  

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