X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (263) 263
hermanski-pudlak syndrome - genetics (206) 206
index medicus (141) 141
animals (123) 123
male (117) 117
female (109) 109
mutation (109) 109
hermansky-pudlak syndrome (94) 94
mice (93) 93
hermanski-pudlak syndrome - pathology (76) 76
adult (73) 73
hermansky-pudlak-syndrome (67) 67
cell biology (65) 65
membrane proteins - genetics (65) 65
hermanski-pudlak syndrome - metabolism (63) 63
lysosome-related organelles (58) 58
albinism (57) 57
mutations (57) 57
hermanski-pudlak syndrome - diagnosis (53) 53
phenotype (52) 52
carrier proteins - genetics (50) 50
gene (50) 50
proteins (50) 50
hematology (47) 47
trafficking (47) 47
middle aged (46) 46
disease models, animal (45) 45
child (44) 44
eye diseases (44) 44
biogenesis (43) 43
genetics & heredity (43) 43
article (42) 42
hermanski-pudlak syndrome - complications (41) 41
mice, inbred c57bl (38) 38
oculocutaneous albinism (38) 38
pulmonary fibrosis (38) 38
hermanski-pudlak syndrome - physiopathology (36) 36
child, preschool (35) 35
hermansky–pudlak syndrome (35) 35
beta-3a subunit (32) 32
dna mutational analysis (32) 32
mice, mutant strains (31) 31
molecular sequence data (31) 31
adolescent (30) 30
biochemistry & molecular biology (29) 29
dermatology (29) 29
genes (29) 29
melanosomes (29) 29
respiratory system (29) 29
proteins - genetics (28) 28
genetic aspects (27) 27
pigmentation (27) 27
pulmonary-fibrosis (27) 27
complex (26) 26
form (26) 26
infant (26) 26
research (26) 26
carrier proteins - metabolism (25) 25
disease (24) 24
organelles (24) 24
analysis (23) 23
chediak-higashi-syndrome (23) 23
ap-3 adapter (22) 22
base sequence (22) 22
cells (22) 22
hemic and lymphatic diseases (22) 22
vesicle formation (22) 22
abridged index medicus (21) 21
defects (21) 21
lysosomes - metabolism (21) 21
mouse model (21) 21
protein complex (21) 21
adaptor protein complex 3 - genetics (20) 20
albinism, oculocutaneous - genetics (20) 20
hermanski-pudlak syndrome - blood (20) 20
integumentary system (20) 20
lung - pathology (20) 20
mouse (20) 20
pedigree (20) 20
protein (20) 20
transport (20) 20
disorders (19) 19
genetics (19) 19
membrane proteins - metabolism (19) 19
ophthalmology (19) 19
storage pool deficiency (19) 19
amino acid sequence (18) 18
gene mutations (18) 18
hps1 (18) 18
mutation - genetics (18) 18
rab gtp-binding proteins - genetics (18) 18
hermanski-pudlak syndrome - immunology (17) 17
melanocytes - metabolism (17) 17
molecular biology (17) 17
pale ear ep (17) 17
protein transport (17) 17
ap-3 adapter complex (16) 16
blood platelets - ultrastructure (16) 16
pediatrics (16) 16
immunology (15) 15
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Human mutation, ISSN 1059-7794, 2017, Volume 38, Issue 10, pp. 1402 - 1411
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2016, Volume 90, Issue 1, pp. 96 - 98
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2015, Volume 125, Issue 8, pp. 3178 - 3192
Hermansky-Pudlak syndrome (HPS) comprises a group of inherited disorders caused by mutations that alter the function of lysosome-related organelles. Pulmonary... 
MEDICINE, RESEARCH & EXPERIMENTAL | TISSUE RESPONSES | EPITHELIAL-CELLS | GRANULOMATOUS COLITIS | INFLAMMATION | MOUSE MODEL | IL-13R-ALPHA-2 | LYSOSOME-RELATED ORGANELLES | IL-13 | IDIOPATHIC PULMONARY-FIBROSIS | BREAST REGRESSION PROTEIN-39 | Humans | Male | Pulmonary Fibrosis - blood | Pulmonary Fibrosis - genetics | Receptors, Prostaglandin - metabolism | Adipokines - blood | Chitinase-3-Like Protein 1 | Hermanski-Pudlak Syndrome - blood | Respiratory Mucosa - pathology | Receptors, Prostaglandin - genetics | Adipokines - genetics | Adult | Female | Pulmonary Fibrosis - etiology | Disease Models, Animal | Glycoproteins - genetics | Interleukin-13 Receptor alpha2 Subunit - metabolism | Glycoproteins - blood | Pulmonary Fibrosis - pathology | Biomarkers - blood | Mice, Knockout | Hermanski-Pudlak Syndrome - genetics | Lectins - blood | Animals | Hermanski-Pudlak Syndrome - complications | Interleukin-13 Receptor alpha2 Subunit - genetics | Hermanski-Pudlak Syndrome - pathology | Lectins - genetics | Mice | Respiratory Mucosa - metabolism | Receptors, Immunologic - genetics | Receptors, Immunologic - metabolism | Apoptosis | Enzymes | Pulmonary fibrosis | Gene mutations | Physiological aspects | Development and progression | Hydrolases | Genetic aspects | Research | Health aspects | Proteins | Studies | Chitinase | Plasma | Laboratories | Rodents | Lung diseases | Mutation | Defects
Journal Article
Journal Article
Pigment Cell & Melanoma Research, ISSN 1755-1471, 03/2013, Volume 26, Issue 2, pp. 176 - 192
Journal Article