Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype

scientific article published on 5 December 2012

Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.3109/09537104.2012.741275
P698PubMed publication ID23215637

P50authorStephan EhlQ41260056
Christoph BidlingmaierQ45710748
Gerd SchmitzQ45710760
P2093author name stringBarbara Zieger
Karin Kurnik
Kirstin Sandrock-Lang
Bernd H Belohradsky
Charalampos Aslanidis
Andrea Maul-Pavicic
Josef Müller-Höcker
Ingrid Bartsch
Anja Busse
Nina Rombach
P2860cites workGenetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule sizeQ47303190
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapseQ47435856
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 syndromeQ58019101
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptorQ22008778
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytesQ24291443
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11Q24321783
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) patientsQ24684113
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2Q24685566
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromesQ28215163
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2Q28216578
Signals for sorting of transmembrane proteins to endosomes and lysosomesQ29547469
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.Q33632286
Lysosome-related organellesQ33956953
Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle developmentQ46798561
P433issue7
P921main subjectimmunologyQ101929
Hermansky-Pudlak syndromeQ1506216
P304page(s)538-543
P577publication date2012-12-05
P1433published inPlateletsQ1573582
P1476titleNovel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype
P478volume24

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cites work (P2860)
Q38446534Current status and future prospects for platelet function testing in the diagnosis of inherited bleeding disorders
Q34654919Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
Q55288445Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Q40183657Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils
Q92395130Hermansky-Pudlak syndrome: Mutation update
Q47634553Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations
Q35840841Identification 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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