| 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. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 40 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 15% |
| Student > Bachelor | 5 | 13% |
| Student > Master | 5 | 13% |
| Student > Doctoral Student | 4 | 10% |
| Other | 4 | 10% |
| Other | 7 | 18% |
| Unknown | 9 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 14 | 35% |
| Biochemistry, Genetics and Molecular Biology | 8 | 20% |
| Agricultural and Biological Sciences | 2 | 5% |
| Nursing and Health Professions | 1 | 3% |
| Computer Science | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 13 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 03 August 2022.
All research outputs
#7,030,627
of 23,009,818 outputs
Outputs from Current Pathobiology Reports
#24
of 104 outputs
Outputs of similar age
#111,943
of 316,560 outputs
Outputs of similar age from Current Pathobiology Reports
#5
of 9 outputs
Altmetric has tracked 23,009,818 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 104 research outputs from this source. They receive a mean Attention Score of 3.7. This one has gotten more attention than average, scoring higher than 71% of its peers.
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