Genetic investigation of purine nucleotide imbalance in Saccharomyces cerevisiae
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DOI: 10.1007/s00294-020-01101-y
Abstract: Because metabolism is a complex balanced process involving multiple enzymes, understanding how organisms compensate for transient or permanent metabolic imbalance is a challenging task that can be more easily achieved in simpler unicellular organisms. The… read more here.
Keywords: imbalance; purine nucleotide; investigation purine; nucleotide imbalance ... See more keywords
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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DOI: 10.1515/jpem-2019-0433
Abstract: Abstract Objectives Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. Recent advances in genetic testing have revealed its causative mutations in some CH patients. However, the underlying etiology remains unknown in most patients.… read more here.
Keywords: congenital hypothyroidism; 136 japanese; japanese patients; clinical genetic ... See more keywords
Genetic investigation of dementias in clinical practice
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DOI: 10.1590/0004-282x-anp-2022-s103
Abstract: Abstract Background:  The field of neurodegenerative dementia genetics has advanced significantly over the past two decades, but there are still more to be discovered (such as the gene mutation in some familial forms of dementia).… read more here.
Keywords: dementias; dementias clinical; investigation dementias; genetic investigation ... See more keywords