نتایج جستجو برای: chediak higashi syndrome

تعداد نتایج: 622464  

Journal: :The Journal of Cell Biology 1975
E J Brandt R W Elliott R T Swank

The beige mouse is an animal model for the human Chediak-Higashi syndrome, a disease characterized by giant lysosomes in most cell types. In mice, treatment with androgenic hormones causes a 20-50-fold elevation in at least one kidney lysosomal enzyme, beta-glucuronidase. Beige mice treated with androgen had significantly higher kidney beta-glucuronidase, beta-galactosidase, and N-acetyl-beta-D...

Journal: :IP archives of cytology and histopathology research 2022

A One and half year-old female child born out of 2consanguineous marriage came with multiple hypopigmented patches over the face, trunk lower limbs. There was history recurrent upper respiratory tract infections. On examination she had silvery grey hair, mild hepatomegaly. Ophthalmological revealed oculocutaneous albinism. Skin biopsy showed coarse clumps melanin pigment in epidermis. Hair moun...

2005
Edward K. Novak Michael P. McGarry Richard T. Swank

Two human diseases of platelet storage pool deficiency (SPD). Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. are recessively inherited disorders characterized by hypopigmentation. prolonged bleeding. and normal platelet counts accompanied by a reduction in dense granule number. We have recently described seven independent recessive mutations in the mouse regulated by separate genes whi...

2004
N. Chamoun S. Khalil E. Lashin

We study the structure of Yukawa couplings in intersecting D6-branes wrapping a fac-torizable 6-torus compact space T 6. Models with MSSM-like spectrum are analyzed and found to fail in predicting the quark mass spectrum because of the way in which the family structure for the left-handed, right-handed quarks and, eventually, the Higgses is 'factorized' among the different tori. In order to cir...

2006
Takashi Aoki Naofumi Honda Takahiro Kawai Tatsuya Koike Yukihiro Nishikawa Shunsuke Sasaki Akira Shudo Yoshitsugu Takei

School of Science and Engineering, Kinki University, Higashi-Osaka 577-8502, Japan Department of Mathematics, Graduate School of Science, Hokkaido University, Sapporo 060-0810, Japan Research Institute for Mathematical Sciences, Kyoto University, Kyoto 606-8502, Japan Department of Mathematics, Graduate School of Science, Kyoto University, Kyoto 606-8502 Japan Hitachi Ltd., Asagaya-kita 2-13-2,...

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