| Title |
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome
|
|---|---|
| Published in |
Nature Genetics, July 2011
|
| DOI | 10.1038/ng.884 |
| Pubmed ID | |
| Authors |
Walter HA Kahr, Jesse Hinckley, Ling Li, Hansjörg Schwertz, Hilary Christensen, Jesse W Rowley, Fred G Pluthero, Denisa Urban, Shay Fabbro, Brie Nixon, Rick Gadzinski, Mike Storck, Kai Wang, Gi-Yung Ryu, Shawn M Jobe, Brian C Schutte, Jack Moseley, Noeleen B Loughran, John Parkinson, Andrew S Weyrich, Jorge Di Paola |
| Abstract |
Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome (GPS, MIM139090) detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2). Genomic DNA sequencing confirmed mutations in NBEAL2 as the genetic cause of GPS. NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking and may be critical for the development of platelet α-granules. |
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Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 2 | 1% |
| Japan | 1 | <1% |
| France | 1 | <1% |
| Unknown | 134 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 27 | 20% |
| Researcher | 24 | 17% |
| Student > Master | 15 | 11% |
| Professor > Associate Professor | 14 | 10% |
| Student > Bachelor | 11 | 8% |
| Other | 25 | 18% |
| Unknown | 22 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 47 | 34% |
| Medicine and Dentistry | 34 | 25% |
| Biochemistry, Genetics and Molecular Biology | 20 | 14% |
| Neuroscience | 4 | 3% |
| Computer Science | 3 | 2% |
| Other | 6 | 4% |
| Unknown | 24 | 17% |