1 The pearl mouse is a model for
Hermansky Pudlak Syndrome (HPS), whose symptoms include hypopigmen
2 Hermansky-
Pudlak syndrome (HPS) comprises a group of genetic disor
3 Hermansky-
Pudlak syndrome (HPS) comprises a group of inherited dis
4 Hermansky-
Pudlak syndrome (HPS) consists of ocu-locutaneous albini
5 Hermansky-
Pudlak syndrome (HPS) defines a group of autosomal reces
6 Hermansky-
Pudlak syndrome (HPS) is a disorder of lysosome-related
7 Hermansky-
Pudlak syndrome (HPS) is a disorder of organelle biogene
8 Hermansky-
Pudlak syndrome (HPS) is a disorder of organelle biogene
9 Hermansky-
Pudlak syndrome (HPS) is a family of recessive disorders
10 Hermansky-
Pudlak syndrome (HPS) is a genetic disease of lysosome,
11 Hermansky-
Pudlak syndrome (HPS) is a genetic disorder characterize
12 Hermansky-
Pudlak syndrome (HPS) is a genetic disorder characterize
13 Hermansky-
Pudlak Syndrome (HPS) is a genetically heterogeneous dis
14 Hermansky-
Pudlak syndrome (HPS) is a genetically heterogeneous dis
15 Hermansky-
Pudlak syndrome (HPS) is a genetically heterogeneous inh
16 Hermansky-
Pudlak syndrome (HPS) is a group of disorders characteri
17 Hermansky-
Pudlak syndrome (HPS) is a group of human disorders of o
18 Hermansky-
Pudlak syndrome (HPS) is a human disease characterized b
19 Hermansky-
Pudlak syndrome (HPS) is a rare autosomal recessive dise
20 Hermansky-
Pudlak syndrome (HPS) is a rare autosomal recessive diso
21 Hermansky-
Pudlak syndrome (HPS) is a rare autosomal recessive diso
22 Hermansky-
Pudlak syndrome (HPS) is a rare genodermatosis character
23 Hermansky-
Pudlak syndrome (HPS) is a rare, autosomal recessive dis
24 Hermansky-
Pudlak Syndrome (HPS) is a rare, autosomal recessive dis
25 Hermansky-
Pudlak syndrome (HPS) is a rare, often fatal, autosomal
26 Hermansky-
Pudlak syndrome (HPS) is an autosomal recessive conditio
27 Hermansky-
Pudlak syndrome (HPS) is an autosomal recessive disorder
28 Hermansky-
Pudlak Syndrome (HPS) is an autosomal-recessive conditio
29 Hermansky-
Pudlak syndrome (HPS) is an inherited hemorrhagic diseas
30 Hermansky-
Pudlak syndrome (HPS) is an often-fatal autosomal recess
31 Hermansky-
Pudlak syndrome (HPS) is characterized by oculocutaneous
32 Hermansky-
Pudlak syndrome (HPS), a disorder of organelle biogenesi
33 Hermansky-
Pudlak syndrome (HPS), a genetic cause of ILD in early a
34 Hermansky-
Pudlak syndrome (HPS), consisting of oculocutaneous albi
35 Hermansky-
Pudlak syndrome (HPS; MIM 203300) is a genetically heter
36 Hermansky-
Pudlak syndrome is an autosomal recessive disease charac
37 Hermansky-
Pudlak syndrome is an autosomal recessive disorder chara
38 Hermansky-
Pudlak syndrome is an example of a hereditary disease wh
39 Hermansky-
Pudlak syndrome is characterized by oculocutaneous albin
40 Hermansky-
Pudlak syndrome is now known to be related to defective
41 Hermansky-
Pudlak syndrome type 2 (HPS2) is a primary immunodeficie
42 Hermansky-
Pudlak Syndrome-type 3 (HPS-3) is a relatively mild subt
43 iogenesis and/or trafficking in 10
Hermansky-
Pudlak syndrome strains.
44 , as well as the BLOC-1 and BLOC-2
Hermansky-
Pudlak syndrome proteins are essential for pDC signaling
45 We show that all
Hermansky-
Pudlak syndrome mutant strains except gunmetal have an i
46 Although
Hermansky-
Pudlak syndrome exhibits locus heterogeneity, most patie
47 chthyosis, Netherton syndrome, and
Hermansky-
Pudlak syndrome are reviewed.
48 es such as the Chediak-Higashi and
Hermansky-
Pudlak syndromes, further demonstrating the close relati
49 tive in inherited diseases such as
Hermansky-
Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS)
50 ndividuals with what is now called
Hermansky-
Pudlak syndrome, a bleeding disorder that occurs in asso
51 3B1, the ubiquitous isoform, cause
Hermansky-
Pudlak syndrome type 2.
52 e genes, DTNBP1 and BLOC1S3, cause
Hermansky-
Pudlak syndrome, a human disorder characterized by defec
53 mutation in the Vps33a gene causes
Hermansky-
Pudlak Syndrome (HPS)-like-symptoms in the buff (bf) mou
54 Using cells deficient in different
Hermansky-
Pudlak syndrome complexes, we identified that BLOC-1, bu
55 The human disease
Hermansky-
Pudlak syndrome results from defective biogenesis of lys
56 in subtypes of the genetic disease
Hermansky-
Pudlak syndrome, these results also show that defects in
57 t subtypes of the genetic disorder
Hermansky-
Pudlak syndrome result from defects in a mysterious prot
58 The ashen (ash) mouse, a model for
Hermansky-
Pudlak syndrome (HPS) and for a subset of patients with
59 pearl is an established model for
Hermansky-
Pudlak syndrome (HPS), a genetically heterogenous diseas
60 he muted (mu) mouse is a model for
Hermansky-
Pudlak Syndrome (HPS), an inherited disorder of humans c
61 ion of Rab38, a candidate gene for
Hermansky-
Pudlak syndrome.
62 The genetically heterogeneous
Hermansky-
Pudlak syndrome represents an excellent model for reveal
63 utants are homologous to the human
Hermansky-
Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Gri
64 found to be the homologue of human
Hermansky-
Pudlak syndrome (HPS).
65 a basis for unique forms of human
Hermansky-
Pudlak syndrome and congenital night blindness, for whic
66 Human
Hermansky-
Pudlak syndrome platelets demonstrated similar character
67 c neutropenia corresponds to human
Hermansky-
Pudlak syndrome type 2 (HPS2) and results from mutations
68 In
Hermansky-
Pudlak Syndrome (HPS) a mutation in a 79.3 kDa transmemb
69 nule defects such as those seen in
Hermansky-
Pudlak syndrome (HPS) cause excessive bleeding, but litt
70 al messenger storage deficiency in
Hermansky-
Pudlak Syndrome (HPS) platelets, and the potential of th
71 ing, and lysosome abnormalities in
Hermansky-
Pudlak syndrome (HPS).
72 it of the AP-3 complex, results in
Hermansky-
Pudlak syndrome 2 (HPS2), which is a rare genetic disord
73 otoxicity has been demonstrated in
Hermansky-
Pudlak syndrome type 2 (HPS2), but only a single patient
74 th BLOC-1 and BLOC-3 deficiency in
Hermansky-
Pudlak syndrome variants.
75 y AP-3 and BLOC-1 are perturbed in
Hermansky-
Pudlak Syndrome, a human genetic condition characterized
76 Defective thrombus formation in
Hermansky-
Pudlak syndrome, associated with impaired exocytosis of
77 e two genes most often involved in
Hermansky-
Pudlak syndrome, HPS1 and HPS4, the most frequent syndro
78 perhaps other systemic defects, in
Hermansky-
Pudlak syndrome.
79 the skin of 10 of the mutant mouse
Hermansky-
Pudlak syndrome strains by transmission electron microsc
80 at the gene defects causing murine
Hermansky-
Pudlak syndrome cause blocks in melanosome biogenesis an
81 ltured from patients with forms of
Hermansky-
Pudlak syndrome (HPS) containing defects in trafficking
82 pool deficiency characteristic of
Hermansky-
Pudlak syndrome (HPS) that was not studied in our patien
83 an AP-3 subunit underlie a form of
Hermansky-
Pudlak syndrome (HPS), a disorder characterized by abnor
84 se strains that serve as models of
Hermansky-
Pudlak syndrome (HPS), a genetic disorder characterized
85 pulmonary fibrosis are features of
Hermansky-
Pudlak Syndrome (HPS).
86 microscopy using a mouse model of
Hermansky-
Pudlak syndrome in which platelet dense granules are abs
87 consideration of the diagnosis of
Hermansky-
Pudlak syndrome type 2.
88 ly abolished in the mouse model of
Hermansky-
Pudlak syndrome, ruby-eye, which lacks dense granules.
89 be involved in the pathogenesis of
Hermansky-
Pudlak syndrome-related diseases.
90 rafficking and phenotypic model of
Hermansky-
Pudlak syndrome.
91 have been classified as models of
Hermansky-
Pudlak syndrome.
92 ouse mutant mocha, a model for the
Hermansky-
Pudlak storage pool deficiency syndrome, is characterize
93 eng et al and Sharda et al use the
Hermansky-
Pudlak syndrome (HPS) as a model to show that adenosine
94 The
Hermansky-
Pudlak syndrome (HPS) is a genetic disorder characterize
95 The
Hermansky-
Pudlak syndrome (HPS) is a genetic hypopigmentation and
96 ial colocalization of Tyr with the
Hermansky-
Pudlak syndrome 1 gene product observed in control melan
97 ODS AND Functional deletion of the
Hermansky-
Pudlak syndrome 3 gene (HPS3(-/-)) markedly reduces plat
98 We conclude that the
Hermansky-
Pudlak syndrome complex BLOC-1 and its cargo PI4KIIalpha
99 Many of the
Hermansky-
Pudlak syndrome genes remain uncharacterized and their f
100 The
Hermansky-
Pudlak syndrome is a disorder affecting endosome sorting
101 The
Hermansky-
Pudlak syndrome is a genetically heterogeneous autosomal
102 strain, the parental strain of the
Hermansky-
Pudlak syndrome strain sandy, are abnormal, indicating t
103 The
Hermansky-
Pudlak syndrome strains are classified into morphologic
104 p) mouse strain is a model for the
Hermansky-
Pudlak syndrome type 1 (HPS-1), an autosomal recessive d
105 Two complexes mutated in the
Hermansky-
Pudlak syndrome, adaptor protein complex-3 and biogenesi
106 der characterized by albinism, the
Hermansky-
Pudlak Syndrome, and are associated with schizophrenia r
107 s of complexes associated with the
Hermansky-
Pudlak syndrome.
108 ve additional murine models of the
Hermansky-
Pudlak syndrome.
109 o the hypopigmentation seen in the
Hermansky-
Pudlak syndrome: (1) exocytosis of immature hypopigmente
110 iency, Glanzmann's thrombasthenia,
Hermansky-
Pudlak syndrome, May-Hegglin anomaly or grey platelet sy
111 Mouse knockouts for two
Hermansky-
Pudlak complexes involved in lysosomal biogenesis from e
112 Patients with
Hermansky-
Pudlak syndrome type 2 (HPS-2) have mutations in the bet
113 t cells derived from patients with
Hermansky-
Pudlak syndrome type 2 (HPS-2), CD1b failed to efficient
114 rk article by Frantisek Hermansky and
Paulus Pudlak, clinicians in Prague, Czechoslovakia, is the fir