-
1
-
-
0034928726
-
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. (2001) Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genetics 28, 376-380.
-
(2001)
Nature Genetics
, vol.28
, pp. 376-380
-
-
Anikster, Y.1
Huizing, M.2
White, J.3
Shevchenko, Y.O.4
Fitzpatrick, D.L.5
Touchman, J.W.6
Compton, J.G.7
Bale, S.J.8
Swank, R.T.9
Gahl, W.A.10
Toro, J.R.11
-
2
-
-
0041589546
-
FootPrinter: A program designed for phylogenetic footprinting
-
Blanchette, M. & Tompa, M. (2003) FootPrinter: A program designed for phylogenetic footprinting. Nucleic Acids Res 31, 3840-3842.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3840-3842
-
-
Blanchette, M.1
Tompa, M.2
-
3
-
-
17744396718
-
Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome
-
Bonifacino, J. S. (2004) Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome. Ann NY Acad Sci 1038, 103-114.
-
(2004)
Ann NY Acad Sci
, vol.1038
, pp. 103-114
-
-
Bonifacino, J.S.1
-
4
-
-
24644435903
-
The evolution of noncoding DNA: How much junk, how much func?
-
Castillo-Davis, C. I. (2005) The evolution of noncoding DNA: How much junk, how much func? Trends Genet 21, 533-536.
-
(2005)
Trends Genet
, vol.21
, pp. 533-536
-
-
Castillo-Davis, C.I.1
-
5
-
-
0033007616
-
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor
-
Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A. & Bonifacino, J. S. (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor. Mol Cell 3, 11-21.
-
(1999)
Mol Cell
, vol.3
, pp. 11-21
-
-
Dell'Angelica, E.C.1
Shotelersuk, V.2
Aguilar, R.C.3
Gahl, W.A.4
Bonifacino, J.S.5
-
6
-
-
16344369891
-
The identification and functional characterization of conserved promoter elements in developmental genes
-
Dickmeis, T. & Muller, F. (2005) The identification and functional characterization of conserved promoter elements in developmental genes. Brief Funct Genomic Proteomic 3, 332-350.
-
(2005)
Brief Funct Genomic Proteomic
, vol.3
, pp. 332-350
-
-
Dickmeis, T.1
Muller, F.2
-
7
-
-
1842588760
-
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
-
DiPietro, S. M., Falcon-Perez, J. M. & Dell'Angelica, E. C. (2004) Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 5, 276-283.
-
(2004)
Traffic
, vol.5
, pp. 276-283
-
-
DiPietro, S.M.1
Falcon-Perez, J.M.2
Dell'Angelica, E.C.3
-
8
-
-
21044448584
-
The cell biology of Hermansky-Pudlak syndrome: Recent advances
-
DiPietro, S. M. & Dell'Angelica, E. C. (2005) The cell biology of Hermansky-Pudlak syndrome: Recent advances. Traffic 6, 525-533.
-
(2005)
Traffic
, vol.6
, pp. 525-533
-
-
DiPietro, S.M.1
Dell'Angelica, E.C.2
-
9
-
-
0030927867
-
Searching for promoter elements in human noncoding sequences
-
Duret, L. & Bucher, P. (1997) Searching for promoter elements in human noncoding sequences. Curr Op Struct Biol 7, 399-405.
-
(1997)
Curr Op Struct Biol
, vol.7
, pp. 399-405
-
-
Duret, L.1
Bucher, P.2
-
10
-
-
19244382144
-
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. (1998) Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338, 1258-1264.
-
(1998)
N Engl J Med
, vol.338
, pp. 1258-1264
-
-
Gahl, W.A.1
Brantly, M.2
Kaiser-Kupfer, M.I.3
Iwata, F.4
Hazelwood, S.5
Shotelersuk, V.6
Duffy, L.F.7
Kuehl, E.M.8
Troendle, J.9
Bernardini, I.10
-
11
-
-
33745022082
-
Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles
-
Gautam, R., Novak, E. K., Tan, J., Wakamatsu, K., Ito, S. & Swank, R. T. (2006) Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles. Traffic 7, 779-792.
-
(2006)
Traffic
, vol.7
, pp. 779-792
-
-
Gautam, R.1
Novak, E.K.2
Tan, J.3
Wakamatsu, K.4
Ito, S.5
Swank, R.T.6
-
12
-
-
6444236367
-
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
-
Hermansky, F. & Pudlak, P. (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 14, 162-169.
-
(1959)
Blood
, vol.14
, pp. 162-169
-
-
Hermansky, F.1
Pudlak, P.2
-
13
-
-
0034764945
-
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
-
Huizing, M., Anikster, Y., Fitzpatrick, D. L., Jeong, A. B., D'Souza, M., Rausche, M., Toro, J. R., Kaiser-Kupfer, M. I., White, J. G. & Gahl, W. A. (2001) Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 69, 1022-1032.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1022-1032
-
-
Huizing, M.1
Anikster, Y.2
Fitzpatrick, D.L.3
Jeong, A.B.4
D'Souza, M.5
Rausche, M.6
Toro, J.R.7
Kaiser-Kupfer, M.I.8
White, J.G.9
Gahl, W.A.10
-
14
-
-
0035990977
-
Disorders of vesicles of the lysosomal lineage: The Hermansky-Pudlak syndromes
-
Huizing, M. & Gahl, W. A. (2002) Disorders of vesicles of the lysosomal lineage: The Hermansky-Pudlak syndromes. Curr Mol Med 2, 451-467.
-
(2002)
Curr Mol Med
, vol.2
, pp. 451-467
-
-
Huizing, M.1
Gahl, W.A.2
-
15
-
-
4444367420
-
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
-
Huizing, M., Hess, R., Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G. & Gahl, W. A. (2004) Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 5, 711-722.
-
(2004)
Traffic
, vol.5
, pp. 711-722
-
-
Huizing, M.1
Hess, R.2
Dorward, H.3
Claassen, D.A.4
Helip-Wooley, A.5
Kleta, R.6
Kaiser-Kupfer, M.I.7
White, J.G.8
Gahl, W.A.9
-
16
-
-
52949149668
-
Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics
-
Huizing, M., Helip-Wooley, A., Westbroek, W., Gunay-Aygun, M. & Gahl, W. A. (2008) Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 9, 359-386.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 359-386
-
-
Huizing, M.1
Helip-Wooley, A.2
Westbroek, W.3
Gunay-Aygun, M.4
Gahl, W.A.5
-
17
-
-
0036079158
-
The human genome browser at UCSC
-
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M. & Haussler, D. (2002) The human genome browser at UCSC. Genome Res 12, 996-1006.
-
(2002)
Genome Res
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
18
-
-
0002580694
-
The metabolic and molecular bases of inherited disease
-
(eds. C. R. Scriver, A. L. Beaudet, D. L. Valle, W. S. Sly), New York: McGraw-Hill
-
King, R. A., Hearing, V. J., Creel, D. J. & Oetting, W. S. (2001) Albinism. In: The metabolic and molecular bases of inherited disease (eds. C. R. Scriver, A. L. Beaudet, D. L. Valle, W. S. Sly), pp. 5587-5627. New York: McGraw-Hill.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 5587-5627
-
-
King, R.A.1
Hearing, V.J.2
Creel, D.J.3
Oetting, W.S.4
-
19
-
-
33644971546
-
-
New York: Taylor & Francis
-
Latchman, D. (2005) Gene regulation. New York: Taylor & Francis.
-
(2005)
Gene Regulation
-
-
Latchman, D.1
-
20
-
-
0043208690
-
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
-
Martina, J. A., Moriyama, K. & Bonifacino, J. S. (2003) BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 278, 29376-29384.
-
(2003)
J Biol Chem
, vol.278
, pp. 29376-29384
-
-
Martina, J.A.1
Moriyama, K.2
Bonifacino, J.S.3
-
21
-
-
0042307384
-
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
-
Nazarian, R., Falcon-Perez, J. M. & Dell'Angelica, E. C. (2003) Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci USA 100, 8770-8775.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 8770-8775
-
-
Nazarian, R.1
Falcon-Perez, J.M.2
Dell'Angelica, E.C.3
-
22
-
-
0034835289
-
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region
-
Phornphutkul, C., Anikster, Y., Huizing, M., Braun, P., Brodie, C., Chou, J. Y. & Gahl, W. A. (2001) The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Am J Hum Genet 69, 712-721.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 712-721
-
-
Phornphutkul, C.1
Anikster, Y.2
Huizing, M.3
Braun, P.4
Brodie, C.5
Chou, J.Y.6
Gahl, W.A.7
-
23
-
-
0035103547
-
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
-
Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F. & Desnick, R. J. (2001) Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest 107, 753-762.
-
(2001)
J Clin Invest
, vol.107
, pp. 753-762
-
-
Solis, C.1
Aizencang, G.I.2
Astrin, K.H.3
Bishop, D.F.4
Desnick, R.J.5
-
24
-
-
3142580943
-
Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)
-
Starcevic, M. & Dell'Angelica, E. C. (2004) Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem 279, 28393-28401.
-
(2004)
J Biol Chem
, vol.279
, pp. 28393-28401
-
-
Starcevic, M.1
Dell'Angelica, E.C.2
-
25
-
-
0038664127
-
Identification and functional analysis of human transcriptional promoters
-
Trinklein, N., Force Aldred, S., Saldanha, A. & Myers, R. M. (2003) Identification and functional analysis of human transcriptional promoters. Genome Res 13, 308-312.
-
(2003)
Genome Res
, vol.13
, pp. 308-312
-
-
Trinklein, N.1
Force Aldred, S.2
Saldanha, A.3
Myers, R.M.4
-
26
-
-
33645057693
-
Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function
-
Wei, M. (2006) Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function. Pig Cell Res 19, 19-41.
-
(2006)
Pig Cell Res
, vol.19
, pp. 19-41
-
-
Wei, M.1
-
27
-
-
15244358503
-
Systematic discovery of promoter motifs in human promoters and 3′ UTRs by comparison of several mammals
-
Xie, X., Lu, J., Kulbokas, E. J., Golub, T. R., Mootha, V., Lindblad-Toh, K., Landers, E. S. & Kelis, M. (2005) Systematic discovery of promoter motifs in human promoters and 3′ UTRs by comparison of several mammals. Nature 434, 17.
-
(2005)
Nature
, vol.434
, pp. 17
-
-
Xie, X.1
Lu, J.2
Kulbokas, E.J.3
Golub, T.R.4
Mootha, V.5
Lindblad-Toh, K.6
Landers, E.S.7
Kelis, M.8
-
28
-
-
0042561796
-
Of mice and men: Phylogenetic footprinting aids the discovery of promoter elements
-
Zhang, Z. & Gerstein, M. (2003) Of mice and men: Phylogenetic footprinting aids the discovery of promoter elements. J Biol 2, 11.
-
(2003)
J Biol
, vol.2
, pp. 11
-
-
Zhang, Z.1
Gerstein, M.2
-
29
-
-
0036021705
-
Why so many noncoding nucleotides? The eukaryote genome as an epigenetic machine
-
Zuckerland, E. (2002) Why so many noncoding nucleotides? The eukaryote genome as an epigenetic machine. Genetica 115, 105-129.
-
(2002)
Genetica
, vol.115
, pp. 105-129
-
-
Zuckerland, E.1
|