Hermansky-Pudlak syndrome: Pigmentary and non-pigmentary defects and their pathogenesis

Pigment Cell and Melanoma Research

Volumn 26, Issue 2, 2013, Pages 176-192

  Wei, Ai Hua ^a,b   Li, Wei ^b  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b INSTITUTE OF GENETICS AND DEVELOPMENTAL BIOLOGY   (China)

Author keywords

Hermansky Pudlak syndrome; Hypopigmentation; Lysosomal trafficking; Lysosome related organelles; Signal transduction

Indexed keywords

ADAPTOR PROTEIN; BINDING PROTEIN; CEROID; DYSTROBREVIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; MENKES PROTEIN;

5' UNTRANSLATED REGION; ABNORMAL BEHAVIOR; ACROSOME; AUTOLYSOSOME; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; BLEEDING TENDENCY; BLEEDING TIME; CELL MIGRATION; CELL ORGANELLE; CELL TRANSDIFFERENTIATION; CHOROIDEREMIA; CHROMAFFIN CELL; CLINICAL FEATURE; COLITIS; DEPIGMENTATION; ENDOSOME; EXOCYTOSIS; FRAMESHIFT MUTATION; GRISCELLI SYNDROME; HEART INJURY; HUMAN; HYPOPIGMENTATION; IMMUNE DEFICIENCY; INCIDENCE; LAMELLAR BODY; LUNG FIBROSIS; LUNG LESION; LYSOSOME; LYSOSOME MEMBRANE; MAMMAL CELL; MELANOCYTE; MELANOSOME; MOLECULAR DIAGNOSIS; NEUROLOGIC DISEASE; NEUTROPENIA; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PATHOGENESIS; PHAGOCYTOSIS; PHAGOLYSOSOME; PHYSIOLOGY; PLURIPOTENT STEM CELL; PROGNOSIS; PROTEIN FUNCTION; REVIEW; SIGNAL TRANSDUCTION; START CODON; STEM CELL TRANSPLANTATION; SYNAPSE VESICLE; THROMBOCYTE TRANSFUSION; VISUAL ACUITY; WEIBEL PALADE BODY; X CHROMOSOME LINKED DISORDER;

ANIMALS; DISEASE MODELS, ANIMAL; HERMANSKI-PUDLAK SYNDROME; HUMANS; LYSOSOMES; PIGMENTATION; SIGNAL TRANSDUCTION;

EID: 84874345140     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/pcmr.12051     Document Type: Review

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