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1 interactors of complexes associated with the Hermansky-Pudlak syndrome.
2 vesicle trafficking and phenotypic model of Hermansky-Pudlak syndrome.
3 and hence perhaps other systemic defects, in Hermansky-Pudlak syndrome.
4 from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome.
5 ysis on five additional murine models of the Hermansky-Pudlak syndrome.
6 se strains have been classified as models of Hermansky-Pudlak syndrome.
8 ributing to the hypopigmentation seen in the Hermansky-Pudlak syndrome: (1) exocytosis of immature hy
9 ta3A subunit of the AP-3 complex, results in Hermansky-Pudlak syndrome 2 (HPS2), which is a rare gene
11 nrelated individuals with what is now called Hermansky-Pudlak syndrome, a bleeding disorder that occu
12 wo of these genes, DTNBP1 and BLOC1S3, cause Hermansky-Pudlak syndrome, a human disorder characterize
13 mediated by AP-3 and BLOC-1 are perturbed in Hermansky-Pudlak Syndrome, a human genetic condition cha
15 ubunits as a basis for unique forms of human Hermansky-Pudlak syndrome and congenital night blindness
16 ited disorder characterized by albinism, the Hermansky-Pudlak Syndrome, and are associated with schiz
19 strated that the gene defects causing murine Hermansky-Pudlak syndrome cause blocks in melanosome bio
23 tic diseases such as the Chediak-Higashi and Hermansky-Pudlak syndromes, further demonstrating the cl
27 s is defective in inherited diseases such as Hermansky-Pudlak syndrome (HPS) and Chediak-Higashi synd
29 f Blood, Meng et al and Sharda et al use the Hermansky-Pudlak syndrome (HPS) as a model to show that
30 dense granule defects such as those seen in Hermansky-Pudlak syndrome (HPS) cause excessive bleeding
34 nocytes cultured from patients with forms of Hermansky-Pudlak syndrome (HPS) containing defects in tr
64 and chemical messenger storage deficiency in Hermansky-Pudlak Syndrome (HPS) platelets, and the poten
65 et storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in
66 ations in an AP-3 subunit underlie a form of Hermansky-Pudlak syndrome (HPS), a disorder characterize
69 inbred mouse strains that serve as models of Hermansky-Pudlak syndrome (HPS), a genetic disorder char
70 ion mutant pearl is an established model for Hermansky-Pudlak syndrome (HPS), a genetically heterogen
72 se mouse mutants are homologous to the human Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrom
79 LV, and the two genes most often involved in Hermansky-Pudlak syndrome, HPS1 and HPS4, the most frequ
80 intravital microscopy using a mouse model of Hermansky-Pudlak syndrome in which platelet dense granul
88 mune deficiency, Glanzmann's thrombasthenia, Hermansky-Pudlak syndrome, May-Hegglin anomaly or grey p
91 that AP-3, as well as the BLOC-1 and BLOC-2 Hermansky-Pudlak syndrome proteins are essential for pDC
94 Prominent subtypes of the genetic disorder Hermansky-Pudlak syndrome result from defects in a myste
96 t completely abolished in the mouse model of Hermansky-Pudlak syndrome, ruby-eye, which lacks dense g
97 he DBA/2J strain, the parental strain of the Hermansky-Pudlak syndrome strain sandy, are abnormal, in
99 osomes in the skin of 10 of the mutant mouse Hermansky-Pudlak syndrome strains by transmission electr
101 e mutated in subtypes of the genetic disease Hermansky-Pudlak syndrome, these results also show that
102 ale ear (ep) mouse strain is a model for the Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal r
104 3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2 (HPS-2), CD1b failed to
105 m of cyclic neutropenia corresponds to human Hermansky-Pudlak syndrome type 2 (HPS2) and results from
107 hocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a sing
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