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Neurogenetics in Peru: clinical, scientific and ethical perspectives
(Springer, 2015)
Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we review the ...
New Insights into the Genetic Basis of Monge's Disease and Adaptation to High-Altitude
(Oxford University Press, 2017)
Human high-altitude (HA) adaptation or mal-adaptation is explored to understand the physiology, pathophysiology, and molecular mechanisms that underlie long-term exposure to hypoxia. Here, we report the results of an ...
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
(Elsevier, 2017)
The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci ...
Genetic basis of alcoholic and nonalcoholic fatty liver disease
(Springer, 2015)
The abnormal deposition of triglycerides in the liver is known as fatty liver. While the transformationof fatty liver may occur owing to a number of factors, it is often associated either with metabolic risk factors of the ...
Clinical interpretation and management of genetic variants
Genetic variants are major determinants of susceptibility to disease, response to therapy, and clinical outcomes. Advances
in the short-read sequencing technologies, despite some shortcomings, have enabled identification ...
Grapevine genetics after the genome sequence: Challenges and limitations
(Wiley Blackwell Publishing, Inc, 2010-01)
The publication of the genome sequences of inbred grapevine plant PN40024 and the cultivar Pinot Noir has provided a new generation of molecular tools and has opened the way to functional genomics in grapevine. Establishing ...
Genetic basis of mycotoxin susceptibility differences between budding yeast isolates
(2017)
Micophenolic acid (MPA) is an immunosuppressant mycotoxin which impairs yeast cell growth to variable degrees depending on the genetic background. Such variation could have emerged from several phenomena, including MPA ...
Chapter 6: Founder variations in isolated populations
(2020)
Isolated populations, also called population isolates and genetic isolates, present several characteristic features that make them useful in the study of the genetic basis of both Mendelian and complex disorders. The ...
Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism
(OMICS International, 2017-05)
Congenital hypothyroidism, defined as the functional deficiency of thyroid hormones present at birth, occurs in approximately 1: 2,000 to 4,000 newborns. Thyroid hormones play an essential role in the maturation of the ...
The genetic basis for susceptibility to Rift Valley fever disease in MBT/Pas mice
(Nature Publishing Group, 2017)