| Title |
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations
|
|---|---|
| Published in |
Journal of Molecular Neuroscience, June 2015
|
| DOI | 10.1007/s12031-015-0606-6 |
| Pubmed ID | |
| Authors |
Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Zoe Katsarou, Luigi Donato, Antonina Sidoti, Rosalia D’Angelo |
| Abstract |
Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the youngest is symptomatic. Bioinformatics tools showed this novel variant causes a loss of function in Pdcd10 protein due to its localization in the eighth helix and, particularly, affects Leu141, a highly conserved amino acid. Roles of Pdcd10 in angiogenesis regulation and its association with early development of cerebral cavernous malformations were also considered. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
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 | 5 | 29% |
| Student > Doctoral Student | 3 | 18% |
| Other | 2 | 12% |
| Student > Ph. D. Student | 2 | 12% |
| Student > Master | 2 | 12% |
| Other | 1 | 6% |
| Unknown | 2 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 29% |
| Biochemistry, Genetics and Molecular Biology | 3 | 18% |
| Agricultural and Biological Sciences | 2 | 12% |
| Chemical Engineering | 1 | 6% |
| Nursing and Health Professions | 1 | 6% |
| Other | 2 | 12% |
| Unknown | 3 | 18% |
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 20 August 2016.
All research outputs
#19,944,091
of 25,373,627 outputs
Outputs from Journal of Molecular Neuroscience
#1,094
of 1,643 outputs
Outputs of similar age
#189,432
of 277,737 outputs
Outputs of similar age from Journal of Molecular Neuroscience
#18
of 34 outputs
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