Gene Review:
AP3B1 - adaptor-related protein complex 3, beta 1...
Homo sapiens
Synonyms:
ADTB3, ADTB3A, AP-3 complex subunit beta-1, Adaptor protein complex AP-3 subunit beta-1, Adaptor-related protein complex 3 subunit beta-1, ...
- Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Huizing, M., Gahl, W.A. Curr. Mol. Med. (2002)
- Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Enders, A., Zieger, B., Schwarz, K., Yoshimi, A., Speckmann, C., Knoepfle, E.M., Kontny, U., Müller, C., Nurden, A., Rohr, J., Henschen, M., Pannicke, U., Niemeyer, C., Nurden, P., Ehl, S. Blood (2006)
- Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). Gahl, W.A., Brantly, M., Kaiser-Kupfer, M.I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.F., Kuehl, E.M., Troendle, J., Bernardini, I. N. Engl. J. Med. (1998)
- Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Li, W., Zhang, Q., Oiso, N., Novak, E.K., Gautam, R., O'Brien, E.P., Tinsley, C.L., Blake, D.J., Spritz, R.A., Copeland, N.G., Jenkins, N.A., Amato, D., Roe, B.A., Starcevic, M., Dell'Angelica, E.C., Elliott, R.W., Mishra, V., Kingsmore, S.F., Paylor, R.E., Swank, R.T. Nat. Genet. (2003)
- Diagnostic usefulness of bronchoalveolar lavage in Hermansky-Pudlak syndrome: a case with double lung cancers. Takahashi, K., Ishida, T., Ogura, G., Ishii, T., Oshima, K., Sato, S., Muroi, M., Kanazawa, K., Saito, J., Otsuka, Y., Watanabe, K., Handa, M., Munakata, M. Intern. Med. (2004)
- Orofacial movements associated with fluent speech in persons who stutter. McClean, M.D., Tasko, S.M., Runyan, C.M. J. Speech Lang. Hear. Res. (2004)
- Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster, Y., Huizing, M., White, J., Shevchenko, Y.O., Fitzpatrick, D.L., Touchman, J.W., Compton, J.G., Bale, S.J., Swank, R.T., Gahl, W.A., Toro, J.R. Nat. Genet. (2001)
- Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Clark, R.H., Stinchcombe, J.C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E.G., Griffiths, G.M. Nat. Immunol. (2003)
- Protein synthesis in hepatocytes isolated from patients with gastrointestinal malignancy. Starnes, H.F., Warren, R.S., Brennan, M.F. J. Clin. Invest. (1987)
- Marked reduction of Tamm-Horsfall protein synthesis in hyperprostaglandin E-syndrome. Schröter, J., Timmermans, G., Seyberth, H.W., Greven, J., Bachmann, S. Kidney Int. (1993)
- The in vitro response of human tumour cells to desferrioxamine is growth medium dependent. Voest, E.E., Rooth, H., Neijt, J.P., van Asbeck, B.S., Marx, J.J. Cell Prolif. (1993)
- Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Konrad, M., Leonhardt, A., Hensen, P., Seyberth, H.W., Köckerling, A. Pediatrics (1999)
- Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Jung, J., Bohn, G., Allroth, A., Boztug, K., Brandes, G., Sandrock, I., Schäffer, A.A., Rathinam, C., Köllner, I., Beger, C., Schilke, R., Welte, K., Grimbacher, B., Klein, C. Blood (2006)
- Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia. Benson, K.F., Person, R.E., Li, F.Q., Williams, K., Horwitz, M. Nucleic Acids Res. (2004)
- Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. Dell'Angelica, E.C., Ooi, C.E., Bonifacino, J.S. J. Biol. Chem. (1997)
- Hepatopulmonary syndrome: what are we learning from interventional radiology, liver transplantation, and other disorders? Krowka, M.J. Gastroenterology (1995)
- Clinical performance of the new rRoche COBAS TaqMan HCV Test and High Pure System for extraction, detection and quantitation of HCV RNA in plasma and serum. Gelderblom, H.C., Menting, S., Beld, M.G. Antivir. Ther. (Lond.) (2006)
- The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Feng, L., Novak, E.K., Hartnell, L.M., Bonifacino, J.S., Collinson, L.M., Swank, R.T. Blood (2002)
- Atrioventricular sequential pacing: differential effect on retrograde conduction related to level of impulse collision. Mahmud, R., Lehmann, M., Denker, S., Gilbert, C.J., Akhtar, M. Circulation (1983)
- Gamma-carboxylated isoforms of recombinant human protein S with different biologic properties. Grinnell, B.W., Walls, J.D., Marks, C., Glasebrook, A.L., Berg, D.T., Yan, S.B., Bang, N.U. Blood (1990)
- Homologous pigmentation mutations in human, mouse and other model organisms. Jackson, I.J. Hum. Mol. Genet. (1997)
- Modification and abolition of re-entry within the His-Purkinje system in man by diphenylhydantoin. Dhatt, M.S., Akhtar, M., Reddy, P., Gomes, J.A., Lau, S.H., Caracta, A.R., Damato, A.N. Circulation (1977)
- beta-Hydroxyaspartic acid and beta-hydroxyasparagine residues in recombinant human protein S are not required for anticoagulant cofactor activity or for binding to C4b-binding protein. Nelson, R.M., VanDusen, W.J., Friedman, P.A., Long, G.L. J. Biol. Chem. (1991)
- A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. Derst, C., Wischmeyer, E., Preisig-Müller, R., Spauschus, A., Konrad, M., Hensen, P., Jeck, N., Seyberth, H.W., Daut, J., Karschin, A. J. Biol. Chem. (1998)
- Binding of protein S to C4b-binding protein. Mutagenesis of protein S. Nelson, R.M., Long, G.L. J. Biol. Chem. (1992)
- Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Huizing, M., Scher, C.D., Strovel, E., Fitzpatrick, D.L., Hartnell, L.M., Anikster, Y., Gahl, W.A. Pediatr. Res. (2002)
- Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Huizing, M., Anikster, Y., White, J.G., Gahl, W.A. Mol. Genet. Metab. (2001)
- Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hermos, C.R., Huizing, M., Kaiser-Kupfer, M.I., Gahl, W.A. Hum. Mutat. (2002)
- Regulation of growth by a nerve growth factor-like protein which modulates paracrine interactions between a neoplastic epithelial cell line and stromal cells of the human prostate. Djakiew, D., Delsite, R., Pflug, B., Wrathall, J., Lynch, J.H., Onoda, M. Cancer Res. (1991)
- Transforming growth factor beta signaling is disabled early in human endometrial carcinogenesis concomitant with loss of growth inhibition. Parekh, T.V., Gama, P., Wen, X., Demopoulos, R., Munger, J.S., Carcangiu, M.L., Reiss, M., Gold, L.I. Cancer Res. (2002)