scholarly journals The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage

2015 ◽  
Vol 63 (3) ◽  
pp. 561-563 ◽  
Author(s):  
Angela C. Weyand ◽  
Rebecca M. Lombel ◽  
Steven W. Pipe ◽  
Jordan A. Shavit
2006 ◽  
Vol 81 (4) ◽  
pp. 1548-1549 ◽  
Author(s):  
Robert H. Habib ◽  
Anoar Zacharias ◽  
Thomas A. Schwann ◽  
Christopher J. Riordan ◽  
Samuel J. Durham ◽  
...  

2004 ◽  
Vol 36 (4) ◽  
pp. 400-404 ◽  
Author(s):  
Paul Gissen ◽  
Colin A Johnson ◽  
Neil V Morgan ◽  
Janneke M Stapelbroek ◽  
Tim Forshew ◽  
...  

2021 ◽  
Vol 32 (1) ◽  
pp. 199
Author(s):  
MohammadMaina Sulaiman ◽  
MusaMamman Watila ◽  
Jummai Shettima ◽  
Ibrahim Ummate ◽  
YakubuWilberforce Nyandaiti

2007 ◽  
Vol 18 (3) ◽  
pp. 860-867 ◽  
Author(s):  
Akanksha Gupta ◽  
David T. Berg ◽  
Bruce Gerlitz ◽  
Ganesh R. Sharma ◽  
Samreen Syed ◽  
...  

Author(s):  
Kohei Aoki ◽  
Yasushi Teshima ◽  
Hidekazu Kondo ◽  
Shotaro Saito ◽  
Akira Fukui ◽  
...  

2011 ◽  
Vol 192 (3) ◽  
pp. 383-390 ◽  
Author(s):  
Mohammed Ali Akbar ◽  
Charles Tracy ◽  
Walter H.A. Kahr ◽  
Helmut Krämer

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a fatal recessive disorder caused by mutations in the VPS33B or VPS16B genes. Both encode homologues of the Vps33p and Vps16p subunits of the HOPS complex necessary for fusions of vacuoles in yeast. Here, we describe a mutation in the full-of-bacteria (fob) gene, which encodes Drosophila Vps16B. Flies null for fob are homozygous viable and fertile. They exhibit, however, a defect in their immune defense that renders them hypersensitive to infections with nonpathogenic bacteria. fob hemocytes (fly macrophages) engulf bacteria but fail to digest them. Phagosomes undergo early steps of maturation and transition to a Rab7-positive stage, but do not mature to fully acidified phagolysosomes. This reflects a specific requirement of fob in the fusion of phagosomes with late endosomes/lysosomes. In contrast, cargo of autophagosomes as well as endosomes exhibit normal lysosomal delivery in fob cells. These findings suggest that defects in phagosome maturation may contribute to symptoms of ARC patients including recurring infections.


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