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(Human Genome Project)
10,090 results
  • Dopamine Beta-Hydroxylase and its Genetic Variants in Human Health and Disease. [Review]
    J Neurochem 2019Gonzalez-Lopez E, Vrana KE
  • Dopamine beta-hydroxylase (DβH) is an essential neurotransmitter synthesizing enzyme that catalyzes the formation of norepinephrine (NE) from dopamine and has been extensively studied since its discovery in the 1950s. NE serves as a neurotransmitter in both the central and peripheral nervous systems and is the precursor to epinephrine synthesis in the brain and adrenal medulla. Alterations in nor…
  • A Japanese history of the Human Genome Project. [Journal Article]
    Proc Jpn Acad Ser B Phys Biol Sci 2019; 95(8):441-458Sakaki Y
  • The Human Genome Project (HGP) is one of the most important international achievements in life sciences, to which Japanese scientists made remarkable contributions. In the early 1980s, Akiyoshi Wada pioneered the first project for the automation of DNA sequencing technology. Ken-ichi Matsubara exhibited exceptional leadership to launch the comprehensive human genome program in Japan. Hideki Kamba…
  • Variation at DENND1B and Asthma on the Island of Tristan da Cunha. [Journal Article]
    Twin Res Hum Genet 2019; :1-6Duffy DL, Siminovitch KA, … Zamel N
  • A high prevalence of asthma has been documented among the inhabitants of Tristan da Cunha, an isolated island in the South Atlantic. The population derives from just 28 founders. We performed lung function testing, including methacholine inhalation challenge, allergen skin prick testing, and collected DNA from essentially all of the current island population (269 individuals), and genotyped a pan…
  • Challenges of the Human Proteome Project: 10-year Experience of the Russian Consortium. [Journal Article]
    J Proteome Res 2019Archakov AI, Aseev AL, … Zgoda VG
  • This manuscript collects all the efforts of Russian Consortium, bottlenecks revealed in the course of the C-HPP realization and ways of their overcoming. One of the main bottlenecks in the C-HPP is the insufficient sensitivity of proteomic technologies, hampering the detection of low- and ultralow-copy number proteins formed the «dark part» of the human proteome. In the frame of MP-Challenge, to …
  • Human Proteome Project Mass Spectrometry Data Interpretation Guidelines 3.0. [Journal Article]
    J Proteome Res 2019Deutsch EW, Lane L, … Omenn GS
  • The Human Proteome Organization's (HUPO) Human Proteome Project (HPP) developed Mass Spectrometry (MS) Data Interpretation Guidelines that have been applied since 2016. These guidelines have helped ensure that the emerging draft of the complete human proteome is highly accurate and with low numbers of false-positive protein identifications. Here, we describe an update to these guidelines based on…
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