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Related Concept Videos

Prosopagnosia01:24

Prosopagnosia

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Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
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The ABO Blood Group01:12

The ABO Blood Group

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The ABO blood group system is a critical element of transfusion medicine, essential for determining blood compatibility in transfusions and organ transplants. It is based on specific antigens, or agglutinogens, present on the surface of red blood cells (RBCs) and corresponding antibodies, or agglutinins, in the blood plasma.
Antigens in the ABO Blood Group System
Antigens are substances that can trigger an immune response, leading to the production of antibodies. In the ABO blood group system,...
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ABC Transporters: Importer01:27

ABC Transporters: Importer

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ATP-binding cassette or ABC transporters are a class of ATP-driven pumps that hydrolyze ATP to move solutes across the membrane. They can be grouped into importers and exporters. While exporters are present in all domains of life, importers exist only in bacteria and some plants.
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ABC Transporters: Exporter01:31

ABC Transporters: Exporter

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ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...
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Community Based Intervention01:30

Community Based Intervention

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Community-based interventions in mental health represent a paradigm shift from institution-centered care to treatments embedded within the fabric of local communities. By prioritizing inclusion and leveraging existing societal structures, this approach fosters a supportive environment conducive to addressing mental health challenges while promoting individual dignity and agency.
Foundations of Community Mental Health Programs
Central to the success of community-based interventions is the...
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The Antenna Complex01:15

The Antenna Complex

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Plants and other photosynthetic organisms comprise pigments capable of absorption of direct sunlight. These pigments are present in the reaction center - the main site of photochemical reactions as well as in the antenna complex. Under average light conditions, the rate at which reaction center pigments absorb light is far below the electron transport chain's capacity. As a result, the reaction center alone cannot provide enough energy to drive photosynthesis. The photosynthetic efficiency can...
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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

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Related Experiment Video

Updated: Nov 29, 2025

Holistic Facial Composite Creation and Subsequent Video Line-up Eyewitness Identification Paradigm
09:49

Holistic Facial Composite Creation and Subsequent Video Line-up Eyewitness Identification Paradigm

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The Human Face of ABCC6.

Sharon F Terry1

  • 1Genetic Alliance, PXE International, Washington, DC, USA.

FEBS Letters
|November 19, 2020
PubMed
Summary

Patient advocacy accelerates research into ABCC6, the gene linked to Pseudoxanthoma elasticum (PXE). Collaboration drives progress towards effective PXE treatments.

Area of Science:

  • Biochemistry and genetics of ATP-binding cassette (ABC) transporters.
  • Translational research in human genetic disorders.

Background:

  • ABC transporters play a crucial role in human health and disease.
  • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder associated with mutations in the ABCC6 gene.
  • Patient advocacy organizations have become integral to advancing rare disease research.

Purpose of the Study:

  • To highlight the significant contributions of patient advocacy in accelerating research on ABC transporters, specifically ABCC6.
  • To underscore the collaborative efforts between basic scientists, clinicians, and patient advocates in advancing PXE research.
  • To demonstrate the impact of sustained research support and consortium building on therapeutic development for PXE.

Main Methods:

  • Formation of a large research consortium by a patient advocacy organization (PXE International).
Keywords:
ABC transportersABCC6Pseudoxanthoma elasticumWikiAdvocacyadvocacycitizen scienceeye diseasegenetic diseaseskin disease

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  • Initiation, funding, and conduct of research over 25 years.
  • Integration of basic modeling, hypothesis testing, and clinical translation.

    • Main Results:

    • Significant advances in understanding the role of ABCC6 in PXE.
    • Development of preclinical models and hypothesis testing leading to clinical trials.
    • Demonstrated synergy between diverse scientific disciplines and patient advocacy.

    Conclusions:

    • Collaborative efforts involving basic scientists, clinicians, and patient advocates have dramatically accelerated PXE research.
    • Sustained research support and consortium building are vital for progress in rare genetic diseases.
    • The synergy achieved is paving the way for more effective treatments for patients with Pseudoxanthoma elasticum.