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HERMANSKY-PUDLAK SYNDROME 2
Known as:
HPS2
, Hermansky Pudlak syndrome 2
, Platelet defects and oculocutaneous albinism
National Institutes of Health
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Related topics
Related topics
11 relations
AP3B1 gene
Autosomal recessive inheritance
Hip Dysplasia
Low-set ears
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Broader (1)
Hermanski-Pudlak Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2
T. Nishikawa
,
K. Okamura
,
+10 authors
Y. Kawano
The Journal of dermatology
2019
Corpus ID: 209166891
Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial…
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2017
2017
Hermansky–Pudlak syndrome type 2: Aberrant pre‐mRNA splicing and mislocalization of granule proteins in neutrophils
M. de Boer
,
K. van Leeuwen
,
+9 authors
T. Kuijpers
Human mutation
2017
Corpus ID: 8594361
Hermansky–Pudlak syndrome type 2 (HPS2) is a syndrome caused by mutations in the beta‐3A subunit of the adaptor protein (AP)‐3…
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Highly Cited
2016
Highly Cited
2016
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
S. Ammann
,
A. Schulz
,
+18 authors
S. Ehl
Blood
2016
Corpus ID: 5388220
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently…
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2013
2013
Occurrence of Nodular Lymphocyte-Predominant Hodgkin Lymphoma in Hermansky-Pudlak Type 2 Syndrome Is Associated to Natural Killer and Natural Killer T Cell Defects
L. Lorenzi
,
G. Tabellini
,
+12 authors
S. Parolini
PloS one
2013
Corpus ID: 14111045
Hermansky Pudlak type 2 syndrome (HPS2) is a rare autosomal recessive primary immune deficiency caused by mutations on β3A gene…
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Review
2013
Review
2013
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
L. Dotta
,
S. Parolini
,
+4 authors
R. Badolato
Orphanet Journal of Rare Diseases
2013
Corpus ID: 10397058
Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes…
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2012
2012
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
Matthew L. Jones
,
S. Murden
,
+7 authors
A. Mumford
BMC Medical Genetics
2012
Corpus ID: 5729101
BackgroundHermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function…
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2010
2010
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1
M. Wenham
,
S. Grieve
,
+6 authors
A. Mumford
Haematologica
2010
Corpus ID: 38586785
Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex…
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2010
2010
Antidiabetic properties of purified polysaccharide from Hedysarum polybotrys.
Fangdi Hu
,
Xiaodong Li
,
Liang-gong Zhao
,
Shilan Feng
,
Chunming Wang
Canadian journal of physiology and pharmacology
2010
Corpus ID: 35055342
Hedysarum polybotrys polysaccharide (HPS) is the principal active fraction responsible for the antidiabetic properties of this…
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Highly Cited
2007
Highly Cited
2007
Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis.
L. Young
,
R. Pasula
,
P. Gulleman
,
G. Deutsch
,
F. McCormack
American journal of respiratory cell and…
2007
Corpus ID: 25044936
Pulmonary inflammation, abnormalities in type II cell and macrophage morphology, and pulmonary fibrosis are features of Hermansky…
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2003
2003
I-Tim-izing the pathways of counter-regulation
M. Wills-Karp
,
Y. Belkaid
,
C. Karp
Nature Immunology
2003
Corpus ID: 25774416
Tim-3, a member of the T cell immunoglobulin mucin family, is expressed by TH1 cells. Analysis of Tim-3–Tim3 ligand signaling now…
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