Title |
Alström syndrome: current perspectives
|
---|---|
Published in |
The Application of Clinical Genetics, July 2015
|
DOI | 10.2147/tacg.s56612 |
Pubmed ID | |
Authors |
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde |
Abstract |
Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especially for those without the typical ALMS phenotype. In an effort to deepen the understanding of the pathogenesis of ALMS disease, much work has been done, in order to establish the biological implication of ALMS1 protein, which is still being elucidated. In addition to its role in ciliary function and structure maintenance, this protein has been implicated in intracellular trafficking, regulation of cilia signaling pathways, and cellular differentiation, among others. All these progresses will lead to identifying therapeutic targets, thus opening the way to future personalized therapies for human ciliopathies. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Italy | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 87 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 15 | 17% |
Researcher | 12 | 14% |
Other | 10 | 11% |
Student > Master | 10 | 11% |
Student > Bachelor | 7 | 8% |
Other | 10 | 11% |
Unknown | 23 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 20 | 23% |
Biochemistry, Genetics and Molecular Biology | 16 | 18% |
Agricultural and Biological Sciences | 8 | 9% |
Psychology | 3 | 3% |
Veterinary Science and Veterinary Medicine | 2 | 2% |
Other | 10 | 11% |
Unknown | 28 | 32% |