scholarly article | Q13442814 |
P356 | DOI | 10.3109/09537104.2012.741275 |
P698 | PubMed publication ID | 23215637 |
P50 | author | Stephan Ehl | Q41260056 |
Christoph Bidlingmaier | Q45710748 | ||
Gerd Schmitz | Q45710760 | ||
P2093 | author name string | Barbara Zieger | |
Karin Kurnik | |||
Kirstin Sandrock-Lang | |||
Bernd H Belohradsky | |||
Charalampos Aslanidis | |||
Andrea Maul-Pavicic | |||
Josef Müller-Höcker | |||
Ingrid Bartsch | |||
Anja Busse | |||
Nina Rombach | |||
P2860 | cites work | Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size | Q47303190 |
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse | Q47435856 | ||
Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. | Q50221730 | ||
Innate immunity defects in Hermansky-Pudlak type 2 syndrome | Q58019101 | ||
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor | Q22008778 | ||
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes | Q24291443 | ||
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11 | Q24321783 | ||
A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. | Q24533159 | ||
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients | Q24684113 | ||
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2 | Q24685566 | ||
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes | Q28215163 | ||
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2 | Q28216578 | ||
Signals for sorting of transmembrane proteins to endosomes and lysosomes | Q29547469 | ||
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. | Q33632286 | ||
Lysosome-related organelles | Q33956953 | ||
Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development | Q46798561 | ||
P433 | issue | 7 | |
P921 | main subject | immunology | Q101929 |
Hermansky-Pudlak syndrome | Q1506216 | ||
P304 | page(s) | 538-543 | |
P577 | publication date | 2012-12-05 | |
P1433 | published in | Platelets | Q1573582 |
P1476 | title | Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype | |
P478 | volume | 24 |
Q38446534 | Current status and future prospects for platelet function testing in the diagnosis of inherited bleeding disorders |
Q34654919 | Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2 |
Q55288445 | Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. |
Q40183657 | Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils |
Q92395130 | Hermansky-Pudlak syndrome: Mutation update |
Q47634553 | Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations |
Q35840841 | Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster |
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