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Related Concept Videos

Drug Nomenclature01:17

Drug Nomenclature

During the development of a new pharmaceutical, the manufacturer initially assigns a code name to the drug. Once approved, the drug receives a United States Adopted Name (USAN)—a generic, nonproprietary designation. Upon being listed in the United States Pharmacopeia, this nonproprietary name becomes the drug's official name. Additionally, the manufacturer assigns a proprietary name or trademark, which serves as the brand name under which the drug is marketed. It is worth noting that the same...
Personal Identity01:25

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Personal identity is the deeply felt sense of self that individuals cultivate over time, intricately woven from intrinsic qualities they consider essential to their existence—qualities such as morality, intelligence, and friendliness. These attributes serve as vital internal benchmarks, guiding individuals in evaluating whether their actions resonate with their true selves.When personal identity takes center stage in one's life, individuals often emphasize their distinctiveness, highlighting...
Chemical Symbols01:09

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A chemical symbol is an abbreviation that is used to indicate an element or an atom of an element. For example, the symbol for mercury is Hg. We use the same symbol to indicate one atom of mercury (microscopic domain) or to label a container of many atoms of the element mercury (macroscopic domain).
Some symbols are derived from the common name of the element; others are abbreviations of the name in another language. Most symbols have one or two letters, but three-letter symbols have been used...
Common Names of Aldehydes and Ketones01:11

Common Names of Aldehydes and Ketones

Some common aldehydes and ketones are popularly known by their common names used historically and predate the IUPAC nomenclature.
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Nomenclature of Alkanes02:22

Nomenclature of Alkanes

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Naming Skeletal Muscles01:19

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Comparing the Frequency Effect Between the Lexical Decision and Naming Tasks in Chinese
08:08

Comparing the Frequency Effect Between the Lexical Decision and Naming Tasks in Chinese

Published on: April 1, 2016

What's in a name?

Mitchell J Weiss, Philip J Mason, Monica Bessler

    The Journal of Clinical Investigation
    |June 19, 2012
    PubMed
    Summary
    This summary is machine-generated.

    Diamond-Blackfan anemia (DBA) is often linked to ribosomal protein gene mutations. New research identifies GATA1 mutations in DBA patients lacking these, expanding the disease

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    Area of Science:

    • Hematology
    • Genetics
    • Molecular Biology

    Background:

    • Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by bone marrow failure.
    • Mutations in genes encoding ribosomal proteins (RPs) are found in 50%-70% of DBA patients, classifying it as a ribosomopathy.

    Purpose of the Study:

    • To investigate the genetic basis of DBA in patients without identified RP gene mutations.
    • To explore potential new genetic links to DBA beyond known ribosomopathies.

    Main Methods:

    • Genome-wide exome sequencing was employed to analyze DNA from DBA patients.
    • Genetic analysis focused on identifying mutations in individuals with no detectable RP gene mutations.

    Main Results:

    • Two unrelated families with DBA were found to have mutations in the GATA1 gene.
    • GATA1 encodes a critical hematopoietic transcription factor, previously unlinked to ribosomal function.

    Conclusions:

    • The identification of GATA1 mutations expands the genetic landscape of DBA beyond ribosomopathies.
    • These findings prompt a re-evaluation of the definition of DBA and its underlying molecular mechanisms.