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.
7 iRAPs with deletion of
Hermansky-Pudlak Syndrome 1 (HPS1), which causes pulmona
8 Partial colocalization of Tyr with the
Hermansky-Pudlak syndrome 1 gene product observed in con
9 ributing to the hypopigmentation seen in the
Hermansky-Pudlak syndrome: (
1) exocytosis of immature hy
10 ta3A subunit of the AP-3 complex, results in
Hermansky-Pudlak syndrome 2 (HPS2), which is a rare gene
11 METHODS AND Functional deletion of the
Hermansky-Pudlak syndrome 3 gene (HPS3(-/-)) markedly re
12 nrelated individuals with what is now called
Hermansky-Pudlak syndrome,
a bleeding disorder that occu
13 wo of these genes, DTNBP1 and BLOC1S3, cause
Hermansky-Pudlak syndrome,
a human disorder characterize
14 mediated by AP-3 and BLOC-1 are perturbed in
Hermansky-Pudlak Syndrome,
a human genetic condition cha
15 Two complexes mutated in the
Hermansky-Pudlak syndrome,
adaptor protein complex-3 and
16 ubunits as a basis for unique forms of human
Hermansky-Pudlak syndrome and congenital night blindness
17 imer as a novel member of homologous HerMon (
Hermansky-Pudlak syndrome and MON1-CCZ1) complexes.
18 ited disorder characterized by albinism, the
Hermansky-Pudlak Syndrome,
and are associated with schiz
19 X-linked ichthyosis, Netherton syndrome, and
Hermansky-Pudlak syndrome are reviewed.
20 Defective thrombus formation in
Hermansky-Pudlak syndrome,
associated with impaired exoc
21 strated that the gene defects causing murine
Hermansky-Pudlak syndrome cause blocks in melanosome bio
22 We conclude that the
Hermansky-Pudlak syndrome complex BLOC-1 and its cargo P
23 Using cells deficient in different
Hermansky-Pudlak syndrome complexes, we identified that
24 Although
Hermansky-Pudlak syndrome exhibits locus heterogeneity,
25 tic diseases such as the Chediak-Higashi and
Hermansky-Pudlak syndromes,
further demonstrating the cl
26 Many of the
Hermansky-Pudlak syndrome genes remain uncharacterized a
27 The pearl mouse is a model for
Hermansky Pudlak Syndrome (
HPS), whose symptoms include
28 to LRO trafficking and pulmonary fibrosis in
Hermansky Pudlak syndrome (
HPS).
29 In
Hermansky-Pudlak Syndrome (
HPS) a mutation in a 79.3 kDa
30 s is defective in inherited diseases such as
Hermansky-Pudlak syndrome (
HPS) and Chediak-Higashi synd
31 The ashen (ash) mouse, a model for
Hermansky-Pudlak syndrome (
HPS) and for a subset of pati
32 f Blood, Meng et al and Sharda et al use the
Hermansky-Pudlak syndrome (
HPS) as a model to show that
33 dense granule defects such as those seen in
Hermansky-Pudlak syndrome (
HPS) cause excessive bleeding
34 Hermansky-Pudlak syndrome (
HPS) comprises a group of gen
35 Hermansky-Pudlak syndrome (
HPS) comprises a group of inh
36 Hermansky-Pudlak syndrome (
HPS) consists of ocu-locutane
37 nocytes cultured from patients with forms of
Hermansky-Pudlak syndrome (
HPS) containing defects in tr
38 Hermansky-Pudlak syndrome (
HPS) defines a group of autos
39 Hermansky-Pudlak syndrome (
HPS) is a disorder of lysosom
40 Hermansky-Pudlak syndrome (
HPS) is a disorder of organel
41 Hermansky-Pudlak syndrome (
HPS) is a disorder of organel
42 Hermansky-Pudlak syndrome (
HPS) is a family of recessive
43 Hermansky-Pudlak syndrome (
HPS) is a genetic disease of
44 Hermansky-Pudlak syndrome (
HPS) is a genetic disorder ch
45 Hermansky-Pudlak syndrome (
HPS) is a genetic disorder ch
46 The
Hermansky-Pudlak syndrome (
HPS) is a genetic disorder ch
47 The
Hermansky-Pudlak syndrome (
HPS) is a genetic hypopigment
48 Hermansky-Pudlak Syndrome (
HPS) is a genetically heterog
49 Hermansky-Pudlak syndrome (
HPS) is a genetically heterog
50 Hermansky-Pudlak syndrome (
HPS) is a genetically heterog
51 Hermansky-Pudlak syndrome (
HPS) is a group of disorders
52 Hermansky-Pudlak syndrome (
HPS) is a group of human diso
53 Hermansky-Pudlak syndrome (
HPS) is a human disease chara
54 Hermansky-Pudlak syndrome (
HPS) is a rare autosomal rece
55 Hermansky-Pudlak syndrome (
HPS) is a rare autosomal rece
56 Hermansky-Pudlak syndrome (
HPS) is a rare autosomal rece
57 Hermansky-Pudlak Syndrome (
HPS) is a rare disease caused
58 Hermansky-Pudlak syndrome (
HPS) is a rare genodermatosis
59 Hermansky-Pudlak syndrome (
HPS) is a rare, autosomal rec
60 Hermansky-Pudlak Syndrome (
HPS) is a rare, autosomal rec
61 Hermansky-Pudlak syndrome (
HPS) is a rare, often fatal,
62 Hermansky-Pudlak syndrome (
HPS) is an autosomal recessiv
63 Hermansky-Pudlak syndrome (
HPS) is an autosomal recessiv
64 Hermansky-Pudlak Syndrome (
HPS) is an autosomal-recessiv
65 Hermansky-Pudlak syndrome (
HPS) is an inherited disorder
66 Hermansky-Pudlak syndrome (
HPS) is an inherited hemorrha
67 Hermansky-Pudlak syndrome (
HPS) is an often-fatal autoso
68 Hermansky-Pudlak syndrome (
HPS) is characterized by ocul
69 and chemical messenger storage deficiency in
Hermansky-Pudlak Syndrome (
HPS) platelets, and the poten
70 et storage pool deficiency characteristic of
Hermansky-Pudlak syndrome (
HPS) that was not studied in
71 ations in an AP-3 subunit underlie a form of
Hermansky-Pudlak syndrome (
HPS), a disorder characterize
72 Hermansky-Pudlak syndrome (
HPS), a disorder of organelle
73 Hermansky-Pudlak syndrome (
HPS), a genetic cause of ILD
74 inbred mouse strains that serve as models of
Hermansky-Pudlak syndrome (
HPS), a genetic disorder char
75 ion mutant pearl is an established model for
Hermansky-Pudlak syndrome (
HPS), a genetically heterogen
76 The muted (mu) mouse is a model for
Hermansky-Pudlak Syndrome (
HPS), an inherited disorder o
77 se mouse mutants are homologous to the human
Hermansky-Pudlak syndrome (
HPS), Chediak-Higashi syndrom
78 Hermansky-Pudlak syndrome (
HPS), consisting of oculocuta
79 A mutation in the Vps33a gene causes
Hermansky-Pudlak Syndrome (
HPS)-like-symptoms in the buf
80 me 19 was found to be the homologue of human
Hermansky-Pudlak syndrome (
HPS).
81 n vesicle trafficking and has been linked to
Hermansky-Pudlak syndrome (
HPS).
82 logy, and pulmonary fibrosis are features of
Hermansky-Pudlak Syndrome (
HPS).
83 nged bleeding, and lysosome abnormalities in
Hermansky-Pudlak syndrome (
HPS).
84 Hermansky-Pudlak syndrome (
HPS; MIM 203300) is a genetic
85 LV, and the two genes most often involved in
Hermansky-Pudlak syndrome,
HPS1 and HPS4, the most frequ
86 intravital microscopy using a mouse model of
Hermansky-Pudlak syndrome in which platelet dense granul
87 The
Hermansky-Pudlak syndrome is a disorder affecting endoso
88 The
Hermansky-Pudlak syndrome is a genetically heterogeneous
89 Hermansky-Pudlak syndrome is an autosomal recessive dise
90 Hermansky-Pudlak syndrome is an autosomal recessive diso
91 Hermansky-Pudlak syndrome is an example of a hereditary
92 Hermansky-Pudlak syndrome is characterized by oculocutan
93 Hermansky-Pudlak syndrome is now known to be related to
94 mune deficiency, Glanzmann's thrombasthenia,
Hermansky-Pudlak syndrome,
May-Hegglin anomaly or grey p
95 We show that all
Hermansky-Pudlak syndrome mutant strains except gunmetal
96 Human
Hermansky-Pudlak syndrome platelets demonstrated similar
97 that AP-3, as well as the BLOC-1 and BLOC-2
Hermansky-Pudlak syndrome proteins are essential for pDC
98 that may be involved in the pathogenesis of
Hermansky-Pudlak syndrome-
related diseases.
99 The genetically heterogeneous
Hermansky-Pudlak syndrome represents an excellent model
100 Prominent subtypes of the genetic disorder
Hermansky-Pudlak syndrome result from defects in a myste
101 The human disease
Hermansky-Pudlak syndrome results from defective biogene
102 t completely abolished in the mouse model of
Hermansky-Pudlak syndrome,
ruby-eye, which lacks dense g
103 he DBA/2J strain, the parental strain of the
Hermansky-Pudlak syndrome strain sandy, are abnormal, in
104 The
Hermansky-Pudlak syndrome strains are classified into mo
105 osomes in the skin of 10 of the mutant mouse
Hermansky-Pudlak syndrome strains by transmission electr
106 lanosome biogenesis and/or trafficking in 10
Hermansky-Pudlak syndrome strains.
107 e mutated in subtypes of the genetic disease
Hermansky-Pudlak syndrome,
these results also show that
108 ale ear (ep) mouse strain is a model for the
Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal r
109 e muscular dystrophy type 2G (LGMD2G)(1) and
Hermansky-Pudlak syndrome type 1 (HPS1)(2).
110 Patients with
Hermansky-Pudlak syndrome type 2 (HPS-2) have mutations
111 3-deficient cells derived from patients with
Hermansky-Pudlak syndrome type 2 (HPS-2), CD1b failed to
112 m of cyclic neutropenia corresponds to human
Hermansky-Pudlak syndrome type 2 (HPS2) and results from
113 Hermansky-Pudlak syndrome type 2 (HPS2) is a primary imm
114 hocyte cytotoxicity has been demonstrated in
Hermansky-Pudlak syndrome type 2 (HPS2), but only a sing
115 s prompted consideration of the diagnosis of
Hermansky-Pudlak syndrome type 2.
116 ions of AP3B1, the ubiquitous isoform, cause
Hermansky-Pudlak syndrome type 2.
117 obrevin binding protein 1 has been linked to
Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease
118 Hermansky-Pudlak Syndrome-
type 3 (HPS-3) is a relatively
119 ociated with BLOC-1 and BLOC-3 deficiency in
Hermansky-Pudlak syndrome variants.