1 The pearl mouse is a model for
Hermansky Pudlak Syndrome (HPS), whose symptoms include hypopigmen
2 fficking and pulmonary fibrosis in
Hermansky Pudlak syndrome (HPS).
3 Hermansky-
Pudlak syndrome (HPS) comprises a group of genetic disor
4 Hermansky-
Pudlak syndrome (HPS) comprises a group of inherited dis
5 Hermansky-
Pudlak syndrome (HPS) consists of ocu-locutaneous albini
6 Hermansky-
Pudlak syndrome (HPS) defines a group of autosomal reces
7 Hermansky-
Pudlak syndrome (HPS) is a disorder of lysosome-related
8 Hermansky-
Pudlak syndrome (HPS) is a disorder of organelle biogene
9 Hermansky-
Pudlak syndrome (HPS) is a disorder of organelle biogene
10 Hermansky-
Pudlak syndrome (HPS) is a family of recessive disorders
11 Hermansky-
Pudlak syndrome (HPS) is a genetic disease of lysosome,
12 Hermansky-
Pudlak syndrome (HPS) is a genetic disorder characterize
13 Hermansky-
Pudlak syndrome (HPS) is a genetic disorder characterize
14 Hermansky-
Pudlak Syndrome (HPS) is a genetically heterogeneous dis
15 Hermansky-
Pudlak syndrome (HPS) is a genetically heterogeneous dis
16 Hermansky-
Pudlak syndrome (HPS) is a genetically heterogeneous inh
17 Hermansky-
Pudlak syndrome (HPS) is a group of disorders characteri
18 Hermansky-
Pudlak syndrome (HPS) is a group of human disorders of o
19 Hermansky-
Pudlak syndrome (HPS) is a human disease characterized b
20 Hermansky-
Pudlak syndrome (HPS) is a rare autosomal recessive dise
21 Hermansky-
Pudlak syndrome (HPS) is a rare autosomal recessive diso
22 Hermansky-
Pudlak syndrome (HPS) is a rare autosomal recessive diso
23 Hermansky-
Pudlak Syndrome (HPS) is a rare disease caused by mutati
24 Hermansky-
Pudlak syndrome (HPS) is a rare genodermatosis character
25 Hermansky-
Pudlak syndrome (HPS) is a rare, autosomal recessive dis
26 Hermansky-
Pudlak Syndrome (HPS) is a rare, autosomal recessive dis
27 Hermansky-
Pudlak syndrome (HPS) is a rare, often fatal, autosomal
28 Hermansky-
Pudlak syndrome (HPS) is an autosomal recessive conditio
29 Hermansky-
Pudlak syndrome (HPS) is an autosomal recessive disorder
30 Hermansky-
Pudlak Syndrome (HPS) is an autosomal-recessive conditio
31 Hermansky-
Pudlak syndrome (HPS) is an inherited disorder of intrac
32 Hermansky-
Pudlak syndrome (HPS) is an inherited hemorrhagic diseas
33 Hermansky-
Pudlak syndrome (HPS) is an often-fatal autosomal recess
34 Hermansky-
Pudlak syndrome (HPS) is characterized by oculocutaneous
35 Hermansky-
Pudlak syndrome (HPS), a disorder of organelle biogenesi
36 Hermansky-
Pudlak syndrome (HPS), a genetic cause of ILD in early a
37 Hermansky-
Pudlak syndrome (HPS), consisting of oculocutaneous albi
38 Hermansky-
Pudlak syndrome (HPS; MIM 203300) is a genetically heter
39 Hermansky-
Pudlak syndrome is an autosomal recessive disease charac
40 Hermansky-
Pudlak syndrome is an autosomal recessive disorder chara
41 Hermansky-
Pudlak syndrome is an example of a hereditary disease wh
42 Hermansky-
Pudlak syndrome is characterized by oculocutaneous albin
43 Hermansky-
Pudlak syndrome is now known to be related to defective
44 Hermansky-
Pudlak syndrome type 2 (HPS2) is a primary immunodeficie
45 Hermansky-
Pudlak Syndrome-type 3 (HPS-3) is a relatively mild subt
46 iogenesis and/or trafficking in 10
Hermansky-
Pudlak syndrome strains.
47 , as well as the BLOC-1 and BLOC-2
Hermansky-
Pudlak syndrome proteins are essential for pDC signaling
48 We show that all
Hermansky-
Pudlak syndrome mutant strains except gunmetal have an i
49 Although
Hermansky-
Pudlak syndrome exhibits locus heterogeneity, most patie
50 chthyosis, Netherton syndrome, and
Hermansky-
Pudlak syndrome are reviewed.
51 dystrophy type 2G (LGMD2G)(1) and
Hermansky-
Pudlak syndrome type 1 (HPS1)(2).
52 es such as the Chediak-Higashi and
Hermansky-
Pudlak syndromes, further demonstrating the close relati
53 tive in inherited diseases such as
Hermansky-
Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS)
54 ndividuals with what is now called
Hermansky-
Pudlak syndrome, a bleeding disorder that occurs in asso
55 3B1, the ubiquitous isoform, cause
Hermansky-
Pudlak syndrome type 2.
56 e genes, DTNBP1 and BLOC1S3, cause
Hermansky-
Pudlak syndrome, a human disorder characterized by defec
57 mutation in the Vps33a gene causes
Hermansky-
Pudlak Syndrome (HPS)-like-symptoms in the buff (bf) mou
58 Using cells deficient in different
Hermansky-
Pudlak syndrome complexes, we identified that BLOC-1, bu
59 The human disease
Hermansky-
Pudlak syndrome results from defective biogenesis of lys
60 in subtypes of the genetic disease
Hermansky-
Pudlak syndrome, these results also show that defects in
61 t subtypes of the genetic disorder
Hermansky-
Pudlak syndrome result from defects in a mysterious prot
62 The ashen (ash) mouse, a model for
Hermansky-
Pudlak syndrome (HPS) and for a subset of patients with
63 pearl is an established model for
Hermansky-
Pudlak syndrome (HPS), a genetically heterogenous diseas
64 he muted (mu) mouse is a model for
Hermansky-
Pudlak Syndrome (HPS), an inherited disorder of humans c
65 ion of Rab38, a candidate gene for
Hermansky-
Pudlak syndrome.
66 novel member of homologous HerMon (
Hermansky-
Pudlak syndrome and MON1-CCZ1) complexes.
67 The genetically heterogeneous
Hermansky-
Pudlak syndrome represents an excellent model for reveal
68 utants are homologous to the human
Hermansky-
Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Gri
69 found to be the homologue of human
Hermansky-
Pudlak syndrome (HPS).
70 a basis for unique forms of human
Hermansky-
Pudlak syndrome and congenital night blindness, for whic
71 Human
Hermansky-
Pudlak syndrome platelets demonstrated similar character
72 c neutropenia corresponds to human
Hermansky-
Pudlak syndrome type 2 (HPS2) and results from mutations
73 In
Hermansky-
Pudlak Syndrome (HPS) a mutation in a 79.3 kDa transmemb
74 nule defects such as those seen in
Hermansky-
Pudlak syndrome (HPS) cause excessive bleeding, but litt
75 al messenger storage deficiency in
Hermansky-
Pudlak Syndrome (HPS) platelets, and the potential of th
76 ing, and lysosome abnormalities in
Hermansky-
Pudlak syndrome (HPS).
77 it of the AP-3 complex, results in
Hermansky-
Pudlak syndrome 2 (HPS2), which is a rare genetic disord
78 otoxicity has been demonstrated in
Hermansky-
Pudlak syndrome type 2 (HPS2), but only a single patient
79 th BLOC-1 and BLOC-3 deficiency in
Hermansky-
Pudlak syndrome variants.
80 y AP-3 and BLOC-1 are perturbed in
Hermansky-
Pudlak Syndrome, a human genetic condition characterized
81 Defective thrombus formation in
Hermansky-
Pudlak syndrome, associated with impaired exocytosis of
82 e two genes most often involved in
Hermansky-
Pudlak syndrome, HPS1 and HPS4, the most frequent syndro
83 perhaps other systemic defects, in
Hermansky-
Pudlak syndrome.
84 the skin of 10 of the mutant mouse
Hermansky-
Pudlak syndrome strains by transmission electron microsc
85 at the gene defects causing murine
Hermansky-
Pudlak syndrome cause blocks in melanosome biogenesis an
86 ltured from patients with forms of
Hermansky-
Pudlak syndrome (HPS) containing defects in trafficking
87 pool deficiency characteristic of
Hermansky-
Pudlak syndrome (HPS) that was not studied in our patien
88 an AP-3 subunit underlie a form of
Hermansky-
Pudlak syndrome (HPS), a disorder characterized by abnor
89 se strains that serve as models of
Hermansky-
Pudlak syndrome (HPS), a genetic disorder characterized
90 pulmonary fibrosis are features of
Hermansky-
Pudlak Syndrome (HPS).
91 iRAPs with deletion of
Hermansky-
Pudlak Syndrome 1 (HPS1), which causes pulmonary fibrosi
92 microscopy using a mouse model of
Hermansky-
Pudlak syndrome in which platelet dense granules are abs
93 consideration of the diagnosis of
Hermansky-
Pudlak syndrome type 2.
94 ly abolished in the mouse model of
Hermansky-
Pudlak syndrome, ruby-eye, which lacks dense granules.
95 be involved in the pathogenesis of
Hermansky-
Pudlak syndrome-related diseases.
96 rafficking and phenotypic model of
Hermansky-
Pudlak syndrome.
97 have been classified as models of
Hermansky-
Pudlak syndrome.
98 ouse mutant mocha, a model for the
Hermansky-
Pudlak storage pool deficiency syndrome, is characterize
99 eng et al and Sharda et al use the
Hermansky-
Pudlak syndrome (HPS) as a model to show that adenosine
100 The
Hermansky-
Pudlak syndrome (HPS) is a genetic disorder characterize
101 The
Hermansky-
Pudlak syndrome (HPS) is a genetic hypopigmentation and
102 ial colocalization of Tyr with the
Hermansky-
Pudlak syndrome 1 gene product observed in control melan
103 ODS AND Functional deletion of the
Hermansky-
Pudlak syndrome 3 gene (HPS3(-/-)) markedly reduces plat
104 We conclude that the
Hermansky-
Pudlak syndrome complex BLOC-1 and its cargo PI4KIIalpha
105 Many of the
Hermansky-
Pudlak syndrome genes remain uncharacterized and their f
106 The
Hermansky-
Pudlak syndrome is a disorder affecting endosome sorting
107 The
Hermansky-
Pudlak syndrome is a genetically heterogeneous autosomal
108 strain, the parental strain of the
Hermansky-
Pudlak syndrome strain sandy, are abnormal, indicating t
109 The
Hermansky-
Pudlak syndrome strains are classified into morphologic
110 p) mouse strain is a model for the
Hermansky-
Pudlak syndrome type 1 (HPS-1), an autosomal recessive d
111 Two complexes mutated in the
Hermansky-
Pudlak syndrome, adaptor protein complex-3 and biogenesi
112 der characterized by albinism, the
Hermansky-
Pudlak Syndrome, and are associated with schizophrenia r
113 s of complexes associated with the
Hermansky-
Pudlak syndrome.
114 ve additional murine models of the
Hermansky-
Pudlak syndrome.
115 o the hypopigmentation seen in the
Hermansky-
Pudlak syndrome: (1) exocytosis of immature hypopigmente
116 iency, Glanzmann's thrombasthenia,
Hermansky-
Pudlak syndrome, May-Hegglin anomaly or grey platelet sy
117 trafficking and has been linked to
Hermansky-
Pudlak syndrome (HPS).
118 nding protein 1 has been linked to
Hermansky-
Pudlak syndrome type 7 (HPS-7), a rare disease character
119 Mouse knockouts for two
Hermansky-
Pudlak complexes involved in lysosomal biogenesis from e
120 Patients with
Hermansky-
Pudlak syndrome type 2 (HPS-2) have mutations in the bet
121 t cells derived from patients with
Hermansky-
Pudlak syndrome type 2 (HPS-2), CD1b failed to efficient
122 rk article by Frantisek Hermansky and
Paulus Pudlak, clinicians in Prague, Czechoslovakia, is the fir