Results 91 to 100 of about 1,631,641 (306)

Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the\ud Dynamics of Human Quadrupedalism [PDF]

open access: yes, 2010
: This review includes for the first time a dynamical systems analysis of human quadrupedalism in Uner Tan syndrome, which is characterized by habitual quadrupedalism, impaired intelligence, and rudimentary speech.
Tan, Prof. Dr. Uner
core  

Reciprocal control of viral infection and phosphoinositide dynamics

open access: yesFEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

A comparative study of endoderm differentiation in humans and chimpanzees

open access: yesGenome Biology, 2018
Background There is substantial interest in the evolutionary forces that shaped the regulatory framework in early human development. Progress in this area has been slow because it is difficult to obtain relevant biological samples.
Lauren E. Blake   +7 more
doaj   +1 more source

Population Genetics and Economic Growth [PDF]

open access: yes
This paper builds an age-structural model of human population genetics in which agents are endowed with a high-dimensional genome that determines their cognitive and physical characteristics. Young adults optimally search for a marriage partner, work for
Kwang Woo Park, Paul J. Zak
core  

Saturation mutagenesis reveals manifold determinants of exon definition. [PDF]

open access: yes, 2017
To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we conducted saturation mutagenesis of a 51-nt internal exon in a three-exon minigene.
Anquetil, Vincent   +9 more
core   +2 more sources

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

open access: yesFEBS 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

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report

open access: yesInternational Medical Case Reports Journal
Francesco Libotte,* Katia Margiotti,* Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino Human Genetics Lab, Altamedica Main Centre, Rome, 00198, Italy*These authors contributed equally to this workCorrespondence: Katia Margiotti,
Libotte F   +4 more
doaj  

Proteomic profiling of the plasma of Gambian children with cerebral malaria

open access: yesMalaria Journal, 2018
Background Cerebral malaria (CM) is a severe neurological complication of Plasmodium falciparum infection. A number of pathological findings have been correlated with pediatric CM including sequestration, platelet accumulation, petechial haemorrhage and ...
Ehab M. Moussa   +10 more
doaj   +1 more source

A view of the world from a split-brain perspective [PDF]

open access: yes, 1994
The extent to which observed behavior in the complete commissurotomy patients is supported by only one hemisphere would depend on individual differences interacting with a variety of factors such as genetics, intelligence, and so on.
Zaidel, Dahlia W.
core  

Human Genetics of Cardiomyopathies

open access: yes, 2016
The identification of a disease-causing variant in a patient diagnosed with cardiomyopathy allows for presymptomatic testing in at risk relatives. Carriers of a pathogenic variant can subsequently be screened at intervals by a cardiologist to assess the risk for potentially life-threatening arrhythmias which can be life-saving.
Vermeer, Alexa M. C.   +2 more
openaire   +2 more sources

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