Mutations in NBEAL2 , encoding a BEACH protein, cause gray platelet syndrome
Walter H. A. 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 +20 more
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TLDR
Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2), which was confirmed as the genetic cause of GPS.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.read more
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Platelet secretion: From haemostasis to wound healing and beyond
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G Lopez-Herrera,Giacomo Tampella,Qiang Pan-Hammarström,Peer Herholz,Claudia M. Trujillo-Vargas,Claudia M. Trujillo-Vargas,Kanchan Phadwal,Anna Katharina Simon,Anna Katharina Simon,Michel Moutschen,Amos Etzioni,Adi Mory,Izhak Srugo,Doron Melamed,Kjell Hultenby,Chonghai Liu,Chonghai Liu,Manuela Baronio,Massimiliano Vitali,Pierre Philippet,Vinciane Dideberg,Asghar Aghamohammadi,Nima Rezaei,Victoria Enright,Likun Du,Ulrich Salzer,Hermann Eibel,Dietmar Pfeifer,Hendrik Veelken,Hans J. Stauss,Vassilios Lougaris,Alessandro Plebani,E. Michael Gertz,Alejandro A. Schäffer,Lennart Hammarström,Bodo Grimbacher +35 more
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