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Alagille Syndrome: Genetics and Functional Models

Overview of attention for article published in Current Pathobiology Reports, June 2017
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Title
Alagille Syndrome: Genetics and Functional Models
Published in
Current Pathobiology Reports, June 2017
DOI 10.1007/s40139-017-0144-8
Pubmed ID
Authors

Melissa A. Gilbert, Nancy B. Spinner

Abstract

We review the genetics of the autosomal dominant, multi-system disorder, Alagille syndrome and provide a summary on how current functional models and emerging biotechnologies are equipped to guide scientists towards novel therapies. The importance of haploinsufficiency as a disease mechanism will be underscored throughout this discussion. Alagille syndrome, a human disorder affecting the liver, heart, vasculature, kidney, and other systems, is caused by mutations in the Notch signaling pathway ligand, Jagged1 (JAG1) or the receptor, NOTCH2. Current advances in animal modeling, in vitro cell culture, and human induced pluripotent stem cells, provide new opportunities in which to study disease mechanisms and manifestations. We anticipate that the availability of innovative functional models will allow scientists to test new gene therapies or small molecule treatments in physiologically-relevant systems. With these advances, we look forward to the development of new methods to help Alagille syndrome patients.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 18%
Student > Bachelor 3 18%
Student > Master 3 18%
Other 2 12%
Professor > Associate Professor 2 12%
Other 4 24%
Readers by discipline Count As %
Medicine and Dentistry 12 71%
Biochemistry, Genetics and Molecular Biology 2 12%
Unspecified 2 12%
Nursing and Health Professions 1 6%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 January 2018.
All research outputs
#9,882,566
of 12,354,773 outputs
Outputs from Current Pathobiology Reports
#44
of 82 outputs
Outputs of similar age
#255,425
of 357,071 outputs
Outputs of similar age from Current Pathobiology Reports
#3
of 3 outputs
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