scholarly journals Hermansky-Pudlak Syndrome

10.5772/53573 ◽  
2013 ◽  
Author(s):  
Naoki Oiso ◽  
Akira Kaw
Keyword(s):  
Hermansky Pudlak Syndrome

Relationship Between Mepacrine-Labelled Dense Body Number, Platelet Capacity to Accumulate 14C-5-HT and Platelet Density in the Bernard-Soulier and Hermansky-Pudlak Syndromes

1979 ◽  
Vol 42 (02) ◽  
pp. 694-704 ◽  
Author(s):  
F Rendu ◽  
A T Nurden ◽  
M Lebret ◽  
J P Caen
Keyword(s):  
Dense Body ◽  
Human Subjects ◽  
Human Platelets ◽  
Dense Bodies ◽  
Storage Organelle ◽  
Hereditary Disorders ◽  
Labelling Procedure ◽  
Normal Human ◽  
Hermansky Pudlak Syndrome ◽  
Bernard Soulier Syndrome

SummaryWe have used the mepacrine-labelling procedure to measure the dense body (serotonin storage organelle) content of the platelets of 2 hereditary disorders where abnormalities in dense body number were suspected. The platelets were incubated with mepacrine and examined by fluorescence microscopy. A mean number of 5.4 ± 0.8 (SD) dense bodies per platelet was calculated from the data obtained using platelets isolated from 40 normal human subjects. In contrast the platelets of 2 patients with the Bernard-Soulier syndrome contained an average of 14 and 17 labelled granules. This increase was associated with a much greater capacity of the platelets to accumulate 14C-5-HT. The opposite result was obtained using the platelets from 2 patients with the Hermansky-Pudlak syndrome which contained few granules labelled by mepacrine and took up less 14C-5-HT than normal human platelets. Centrifugation of the patients’ platelets on discontinuous sucrose gradients showed that the platelets of the 2 Bemard-Soulier patients were much denser than normal whereas a high proportion of low density platelets was observed in the Hermansky-Pudlak syndrome. These results further define the platelet abnormalities in the two syndromes and suggest that dense body number may be one of the factors governing platelet density.

Hermansky-Pudlak syndrome: a case report and discussion.

1998 ◽  
Vol 15 (5) ◽  
pp. 374-377 ◽  
Author(s):  
O Vanhooteghem ◽  
W Courtens ◽  
J Andre ◽  
U Sass ◽  
M Song
Keyword(s):  
Case Report ◽  
Hermansky Pudlak Syndrome

scholarly journals Ultrastructural Features of Trafficking Defects Are Pronounced in Melanocytic Nevus in Hermansky–Pudlak Syndrome Type 1

2005 ◽  
Vol 125 (1) ◽  
pp. 154-158 ◽  
Author(s):  
Ken Natsuga ◽  
Masashi Akiyama ◽  
Tadamichi Shimizu ◽  
Tamio Suzuki ◽  
Shiro Ito ◽  
...  
Keyword(s):  
Melanocytic Nevus ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Trafficking Defects

Hermansky–Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6

2021 ◽  
pp. 104228
Author(s):  
Conghui Wang ◽  
Panlai Shi ◽  
Qianqian Li ◽  
Chenchen ◽  
Xuechao Zhao ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Variants ◽  
Hermansky Pudlak Syndrome

The first Hermansky–Pudlak syndrome type 9 patient with two novel variants in Chinese population

2021 ◽  
Author(s):  
Teng Liu ◽  
Yefeng Yuan ◽  
Dayong Bai ◽  
Xingfeng Yao ◽  
Tianjiao Zhang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Syndrome Type ◽  
Novel Variants ◽  
Hermansky Pudlak Syndrome

IL-25 Hermansky-Pudlak syndrome: a model for abnormal vesicle formation and trafficking

2003 ◽  
Vol 16 (5) ◽  
pp. 584-584 ◽  
Author(s):  
M. Huizing ◽  
A. Helip-Wooley ◽  
H. Dorward ◽  
D. Claassen ◽  
R. Hess ◽  
...  
Keyword(s):  
Vesicle Formation ◽  
Hermansky Pudlak Syndrome

scholarly journals A case of hermansky-pudlak syndrome associated with diffuse interstitial pneumonia.

1984 ◽  
Vol 73 (10) ◽  
pp. 1497-1505 ◽  
Author(s):  
Koichi NISHIMURA ◽  
Masanori KITAICHI ◽  
Takateru IZUMI ◽  
Sonoko NAGAI ◽  
Junichi CHIHARA ◽  
...  
Keyword(s):  
Interstitial Pneumonia ◽  
Hermansky Pudlak Syndrome
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