-
1
-
-
0002580692
-
Albinism
-
Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill
-
King RA, Hearing VJ, Creel DJ, Oetting WS: Albinism. In Metabolic and Molecular Bases of Inherited Disease, edn 7. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill; 1995:4353-4392.
-
(1995)
Metabolic and Molecular Bases of Inherited Disease, Edn. 7
, pp. 4353-4392
-
-
King, R.A.1
Hearing, V.J.2
Creel, D.J.3
Oetting, W.S.4
-
5
-
-
0015068931
-
Classification of albinism in man
-
Witkop CJ, White JG, Nance WE, Jackson CE, Desnick S: Classification of albinism in man. Birth Defects Original Article Series 1971, 7:13-25.
-
(1971)
Birth Defects Original Article Series
, vol.7
, pp. 13-25
-
-
Witkop, C.J.1
White, J.G.2
Nance, W.E.3
Jackson, C.E.4
Desnick, S.5
-
6
-
-
0000189661
-
Albinism
-
Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill
-
Witkop CJ, Quevedo WC, Fitzpatrick TB, King RA: Albinism. In The Metabolic Basis of Inherited Diseases, edn 6. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill; 1899:2905-2947.
-
(1989)
The Metabolic Basis of Inherited Diseases, Edn. 6
, pp. 2905-2947
-
-
Witkop, C.J.1
Quevedo, W.C.2
Fitzpatrick, T.B.3
King, R.A.4
-
7
-
-
0024433692
-
Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene
-
Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S: Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989, 164:990-996.
-
(1989)
Biochem Biophys Res Commun
, vol.164
, pp. 990-996
-
-
Tomita, Y.1
Takeda, A.2
Okinaga, S.3
Tagami, H.4
Shibahara, S.5
-
8
-
-
0032913013
-
Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism
-
Oetting WS, King RA: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 1999, 13:99-115. • An updated review listing all reported mutations associated with albinism. The mutations of six genes associated with albinism are compiled in table format with figures showing the location of the mutations on the polypeptide.
-
(1999)
Hum Mutat
, vol.13
, pp. 99-115
-
-
Oetting, W.S.1
King, R.A.2
-
9
-
-
0030722720
-
Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase
-
Cooksey CJ, Garratt PJ, Land EJ, Pavel S, Ramsden CA, Riley PA, Smit NPM: Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase. J Biol Chem 1997, 272:26226-26235.
-
(1997)
J Biol Chem
, vol.272
, pp. 26226-26235
-
-
Cooksey, C.J.1
Garratt, P.J.2
Land, E.J.3
Pavel, S.4
Ramsden, C.A.5
Riley, P.A.6
Smit, N.P.M.7
-
10
-
-
0026070465
-
Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment
-
Giebel LB, Strunk KM, Spritz RA: Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 1991, 9:435-445.
-
(1991)
Genomics
, vol.9
, pp. 435-445
-
-
Giebel, L.B.1
Strunk, K.M.2
Spritz, R.A.3
-
11
-
-
0025729679
-
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism
-
Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA: Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet 1991, 48:1159-1167.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1159-1167
-
-
Giebel, L.B.1
Tripathi, R.K.2
Strunk, K.M.3
Hanifin, J.M.4
Jackson, C.E.5
King, R.A.6
Spritz, R.A.7
-
12
-
-
0026687861
-
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
-
Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrah M, Jenkins T: The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 1992, 51:879-884.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 879-884
-
-
Ramsay, M.1
Colman, M.A.2
Stevens, G.3
Zwane, E.4
Kromberg, J.5
Farrah, M.6
Jenkins, T.7
-
13
-
-
0022370630
-
Brown oculocutaneous albinism: Clinical, ophthalmological, and biochemical characterization
-
King RA, Lewis RA, Townsend D, Zelickson A, Olds DP, Brumbaugh JA: Brown oculocutaneous albinism: clinical, ophthalmological, and biochemical characterization. Ophthalmology 1985, 92:1496-1505.
-
(1985)
Ophthalmology
, vol.92
, pp. 1496-1505
-
-
King, R.A.1
Lewis, R.A.2
Townsend, D.3
Zelickson, A.4
Olds, D.P.5
Brumbaugh, J.A.6
-
14
-
-
0032076307
-
Imprinting in Prader-Willi and Angelman syndromes
-
Nicholls RD, Saitoh S, Horsthemke B: Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 1998, 14:194-200. • An analysis of genomic imprinting associated with two genetic disorders that map to the same region on chromosome 15. This is an excellent review of genomic imprinting examining the two syndromes that set the paradigm for this interesting form of genetic control.
-
(1998)
Trends Genet
, vol.14
, pp. 194-200
-
-
Nicholls, R.D.1
Saitoh, S.2
Horsthemke, B.3
-
15
-
-
0026686945
-
The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes
-
Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH: The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 1992, 257:1121-1124.
-
(1992)
Science
, vol.257
, pp. 1121-1124
-
-
Gardner, J.M.1
Nakatsu, Y.2
Gondo, Y.3
Lee, S.4
Lyon, M.F.5
King, R.A.6
Brilliant, M.H.7
-
16
-
-
0027509280
-
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
-
Rinchik EM, Bultman SJ, Horsthemke B, Lee S, Stunk KM, Spritz RA, et al.: A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993, 361:72-76.
-
(1993)
Nature
, vol.361
, pp. 72-76
-
-
Rinchik, E.M.1
Bultman, S.J.2
Horsthemke, B.3
Lee, S.4
Stunk, K.M.5
Spritz, R.A.6
-
17
-
-
0028942723
-
Organization and sequence of the human P gene and identification of a new family of transport pump proteins
-
Lee S-T, Nicholls RD, Jong MTC, Spritz RA: Organization and sequence of the human P gene and identification of a new family of transport pump proteins. Genomics 1995, 26:354-363.
-
(1995)
Genomics
, vol.26
, pp. 354-363
-
-
Lee, S.-T.1
Nicholls, R.D.2
Jong, M.T.C.3
Spritz, R.A.4
-
18
-
-
0009536558
-
The function of the pink-eyed dilution protein
-
Puri N, Brilliant MH: The function of the pink-eyed dilution protein [abstract]. Pigment Cell Res 1998, 11:174.
-
(1998)
Pigment Cell Res
, vol.11
, pp. 174
-
-
Puri, N.1
Brilliant, M.H.2
-
19
-
-
0028232893
-
African origin of an intragenic deletion of the human P gene in tyrosinase-positive oculocutaneous albinism
-
Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, et al.: African origin of an intragenic deletion of the human P gene in tyrosinase-positive oculocutaneous albinism. Nat Genet 1994, 7:176-179.
-
(1994)
Nat Genet
, vol.7
, pp. 176-179
-
-
Durham-Pierre, D.1
Gardner, J.M.2
Nakatsu, Y.3
King, R.A.4
Francke, U.5
Ching, A.6
-
20
-
-
0030011888
-
Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in blacks
-
Durham-Pierre D, King RA, Naber JM, Laken S, Brilliant MH: Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in blacks. Hum Mutat 1996, 7:370-373.
-
(1996)
Hum Mutat
, vol.7
, pp. 370-373
-
-
Durham-Pierre, D.1
King, R.A.2
Naber, J.M.3
Laken, S.4
Brilliant, M.H.5
-
21
-
-
0029004012
-
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)
-
Spritz RA, Fukai K, Holmes SA, Luande J: Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet 1995, 56:1320-1323.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1320-1323
-
-
Spritz, R.A.1
Fukai, K.2
Holmes, S.A.3
Luande, J.4
-
22
-
-
0031410634
-
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: Distribution of the 2.7-kb deletion allele of the P gene
-
Puri N, Durham-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH: Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. Hum Genet 1997, 100:651-656.
-
(1997)
Hum Genet
, vol.100
, pp. 651-656
-
-
Puri, N.1
Durham-Pierre, D.2
Aquaron, R.3
Lund, P.M.4
King, R.A.5
Brilliant, M.H.6
-
23
-
-
0029886028
-
Mutation in and lack of expression of tyrosinase related protein 1 (TRP1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as OCA3
-
Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, et al.: Mutation in and lack of expression of tyrosinase related protein 1 (TRP1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as OCA3. Am J Hum Genet 1996, 58:1145-1156.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1145-1156
-
-
Boissy, R.E.1
Zhao, H.2
Oetting, W.S.3
Austin, L.M.4
Wildenberg, S.C.5
Boissy, Y.L.6
-
24
-
-
0030828856
-
Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene
-
Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M: Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet 1997, 61:1095-1101.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1095-1101
-
-
Manga, P.1
Kromberg, J.G.2
Box, N.F.3
Sturm, R.A.4
Jenkins, T.5
Ramsay, M.6
-
25
-
-
84907113438
-
Red or rufous albinism in Southern Africa
-
Kromberg JGR, Castle DJ, Zwane EM, Bothwell J, Kidson S, Bartel P, et al.: Red or rufous albinism in Southern Africa. Ophthalmic Paediatr Genet 1990, 11:229-235.
-
(1990)
Ophthalmic Paediatr Genet
, vol.11
, pp. 229-235
-
-
Kromberg, J.G.R.1
Castle, D.J.2
Zwane, E.M.3
Bothwell, J.4
Kidson, S.5
Bartel, P.6
-
26
-
-
0031944118
-
Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1
-
Box NF, Wyeth JR, Mayne CJ, O'Gorman LE, Martin NG, Sturm RA: Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. Mamm Genome 1998, 9:50-53.
-
(1998)
Mamm Genome
, vol.9
, pp. 50-53
-
-
Box, N.F.1
Wyeth, J.R.2
Mayne, C.J.3
O'Gorman, L.E.4
Martin, N.G.5
Sturm, R.A.6
-
27
-
-
0023485139
-
The reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
-
Witkop CJ, Krumwiede M, Sedano H, White JG: The reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987, 26:305-300.
-
(1987)
Am J Hematol
, vol.26
, pp. 305-300
-
-
Witkop, C.J.1
Krumwiede, M.2
Sedano, H.3
White, J.G.4
-
28
-
-
0025473671
-
Albinism and Hermansky-Pudlak syndrome in Puerto Rico
-
Witkop CJ, Babcock MN, Rao GHR, Gaudier F, Summers CG, Shanahan F, et al.: Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R 1990, 82:333-339.
-
(1990)
Bol Asoc Med P R
, vol.82
, pp. 333-339
-
-
Witkop, C.J.1
Babcock, M.N.2
Rao, G.H.R.3
Gaudier, F.4
Summers, C.G.5
Shanahan, F.6
-
29
-
-
19244382144
-
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
-
Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, et al.: Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 1998, 338:1258-1264. • This report compares individuals with HPS with and without the 16-bp duplication originally found in Puerto Rico. It is observed that individuals homozygous for this mutation have a broad range of pigmentation and an increased risk of restrictive lung disease.
-
(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
-
30
-
-
0029145950
-
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-23.3
-
Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA: Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-23.3. Hum Mol Genet 1995, 4:1665-1669.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1665-1669
-
-
Fukai, K.1
Oh, J.2
Frenk, E.3
Almodovar, C.4
Spritz, R.A.5
-
31
-
-
0029128302
-
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2
-
Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA: A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet 1995, 57:755-765.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 755-765
-
-
Wildenberg, S.C.1
Oetting, W.S.2
Almodovar, C.3
Krumwiede, M.4
White, J.G.5
King, R.A.6
-
32
-
-
0030293220
-
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
-
Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, et al.: Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996, 14:300-306.
-
(1996)
Nat Genet
, vol.14
, pp. 300-306
-
-
Oh, J.1
Bailin, T.2
Fukai, K.3
Feng, G.H.4
Ho, L.5
Mao, J.6
-
33
-
-
0030979236
-
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene
-
Bailin T, Oh J, Feng GH, Fukai K, Spritz RA: Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 1997, 108:923-927.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 923-927
-
-
Bailin, T.1
Oh, J.2
Feng, G.H.3
Fukai, K.4
Spritz, R.A.5
-
34
-
-
17344369131
-
Mutationanalysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity
-
Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, et al.: Mutationanalysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 1998, 62:593-598. • Mutational analysis of the HPS locus reveals a hot spot for frameshift mutations. This paper also presents evidence of locus heterogeneity for HPS.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 593-598
-
-
Oh, J.1
Ho, L.2
Ala-Mello, S.3
Amato, D.4
Armstrong, L.5
Bellucci, S.6
-
35
-
-
0031657556
-
Three new mutations in the gene causing Hermansky-Pudlak syndrome: Clinical correlations
-
Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, et al.: Three new mutations in the gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab 1998, 64:99-107.
-
(1998)
Mol Genet Metab
, vol.64
, pp. 99-107
-
-
Shotelersuk, V.1
Hazelwood, S.2
Larson, D.3
Iwata, F.4
Kaiser-Kupfer, M.L.5
Kuehl, E.6
-
36
-
-
0030954169
-
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron
-
Feng GH, Bailin T, Oh J, Spritz RA: Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet 1997, 6:793-797.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 793-797
-
-
Feng, G.H.1
Bailin, T.2
Oh, J.3
Spritz, R.A.4
-
37
-
-
0031946967
-
Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico
-
Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Brilliant MH, King RA: Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. J Invest Dermatol 1998, 110:777-781. • This paper presents evidence for two different transcripts of the HPS gene produced by alternative splicing. This mimics the mechanism seen in the expression of the CHS gene.
-
(1998)
J Invest Dermatol
, vol.110
, pp. 777-781
-
-
Wildenberg, S.C.1
Fryer, J.P.2
Gardner, J.M.3
Oetting, W.S.4
Brilliant, M.H.5
King, R.A.6
-
38
-
-
0031716330
-
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: Support for the role of the HPS gene product in intracellular trafficking
-
Boissy RE, Zhao Y, Gahl WA: Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. Lab Invest 1999, 78:1037-1048. • In this report, cultured melanocytes from individuals affected with HPS are analyzed and the protein product is hypothesized to be involved in organellogenesis and intracellular protein movement.
-
(1999)
Lab Invest
, vol.78
, pp. 1037-1048
-
-
Boissy, R.E.1
Zhao, Y.2
Gahl, W.A.3
-
39
-
-
0033007616
-
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 Adaptor
-
Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS: Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 Adaptor. Mol Cell 1999, 3:11-21. • Mutations of the β-3A are shown to be associated with HPS. The protein product is part of the AP3 adapter complex, known to interact with sorting signals of integral membrane proteins. This paper reveals the complexity of pigment production and the genes associated with HPS.
-
(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
-
40
-
-
0032587547
-
The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
-
Feng L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, et al.: The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 1999, 8:323-330. • Mouse models are important tools in helping us understand the pathogenesis of human disease. In this report, the coat color mouse locus pearl is shown to be homologous to the β-3A subunit gene, which is associated with HPS.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 323-330
-
-
Feng, L.1
Seymour, A.B.2
Jiang, S.3
To, A.4
Peden, A.A.5
Novak, E.K.6
-
41
-
-
0032044504
-
Mouse models of Hermansky Pudlak syndrome: A review
-
Swank RT, Novak E, McGarry MP, Rusiniak ME, Feng L: Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 1998, 11:60-80.
-
(1998)
Pigment Cell Res
, vol.11
, pp. 60-80
-
-
Swank, R.T.1
Novak, E.2
McGarry, M.P.3
Rusiniak, M.E.4
Feng, L.5
-
42
-
-
0032126699
-
Mutations in AP-3δ in the mocha mouse link endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles
-
Kantheti P, Qiao X, Diaz ME, Peden AA, Meyer GE, Carskadon SL, et al.: Mutations in AP-3δ in the mocha mouse link endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 1998, 21:111-122.
-
(1998)
Neuron
, vol.21
, pp. 111-122
-
-
Kantheti, P.1
Qiao, X.2
Diaz, M.E.3
Peden, A.A.4
Meyer, G.E.5
Carskadon, S.L.6
-
43
-
-
0032191713
-
Hermansky-Pudlak syndrome: Models for intracellular vesicle formation
-
Shotelersuk V, Gahl WA: Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab 1998, 65:85-96. • This is a review on proteins involved with HPS that are responsible for protein trafficking and intracellutar vesicle formation. Fourteen mouse loci (see Swank et al. [41]) have phenotypes similar to that seen in HPS, including hypopigmentation and platelet storage pool deficiency. Understanding how these proteins interact will be necessary to understand pigment formation in the melanocyte.
-
(1998)
Mol Genet Metab
, vol.65
, pp. 85-96
-
-
Shotelersuk, V.1
Gahl, W.A.2
-
44
-
-
0021321231
-
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci
-
Novak EK, Hui SW, Swank RT: Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 1984, 63:536-544.
-
(1984)
Blood
, vol.63
, pp. 536-544
-
-
Novak, E.K.1
Hui, S.W.2
Swank, R.T.3
-
45
-
-
0030782362
-
Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
-
Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser- Kupfer MI, et al.: Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet 1997, 61:1088-1094.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1088-1094
-
-
Hazelwood, S.1
Shotelersuk, V.2
Wildenberg, S.C.3
Chen, D.4
Iwata, F.5
Kaiser-Kupfer, M.I.6
-
46
-
-
84924838625
-
Nouvelle anomalie leukocytaire de caractere constitutionnel et familiel
-
Chédiak M: Nouvelle anomalie leukocytaire de caractere constitutionnel et familiel. Rev Hematol 1952, 7:362-367.
-
(1952)
Rev Hematol
, vol.7
, pp. 362-367
-
-
Chédiak, M.1
-
47
-
-
0001021096
-
Congenital gigantism or peroxidase granules
-
Higashi O: Congenital gigantism or peroxidase granules. Tohoku J Exp Med 1954, 59:315-332.
-
(1954)
Tohoku J Exp Med
, vol.59
, pp. 315-332
-
-
Higashi, O.1
-
48
-
-
0014007775
-
Chédiak-Higashi syndrome: Hereditary gigantism of cytoplasmic organelles
-
Windhorst DB, Zelickson AS, Good RA: Chédiak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. Science 1966, 151:81-83.
-
(1966)
Science
, vol.151
, pp. 81-83
-
-
Windhorst, D.B.1
Zelickson, A.S.2
Good, R.A.3
-
49
-
-
0027936741
-
On the analysis of the pathophysiology of Chédiak-Higashi syndrome: Defects expressed by cultured melanocytes
-
Zhao H, Boissy YL, Abdel-Malek ZA, King RA, Nordlund JJ, Boissy RE: On the analysis of the pathophysiology of Chédiak-Higashi syndrome: defects expressed by cultured melanocytes. Lab Invest 1994, 71:25-34.
-
(1994)
Lab Invest
, vol.71
, pp. 25-34
-
-
Zhao, H.1
Boissy, Y.L.2
Abdel-Malek, Z.A.3
King, R.A.4
Nordlund, J.J.5
Boissy, R.E.6
-
50
-
-
0031887486
-
Genetic defects in Chédiak-Higashi syndrome and the beige mouse
-
Spritz RA: Genetic defects in Chédiak-Higashi syndrome and the beige mouse. J Clin Immunol 1998, 18:97-105. • This is a good review of the CHS gene, including recent molecular information on CHS and the CHS protein product.
-
(1998)
J Clin Immunol
, vol.18
, pp. 97-105
-
-
Spritz, R.A.1
-
52
-
-
0029781458
-
Homozygous mapping of the gene for Chédiak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)
-
Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, et al.: Homozygous mapping of the gene for Chédiak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 1996, 59:620-624.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 620-624
-
-
Fukai, K.1
Oh, J.2
Karim, M.A.3
Moore, K.J.4
Kandil, H.H.5
Ito, H.6
-
53
-
-
19244364490
-
Genetic and physical mapping of the Chédiak-Higashi syndrome on chromosome 1q42-43
-
Barrat FJ, Auloge L, Pastural E, Dufourcq-Lagelouse R, Vilmer E, Cant AJ, et al.: Genetic and physical mapping of the Chédiak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet 1996, 59:625-632.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 625-632
-
-
Barrat, F.J.1
Auloge, L.2
Pastural, E.3
Dufourcq-Lagelouse, R.4
Vilmer, E.5
Cant, A.J.6
-
54
-
-
8944248275
-
Identification of the murine beige gene by YAC complementation and positional cloning
-
Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA, McGrail SH, et al.: Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 1996, 13:303-308.
-
(1996)
Nat Genet
, vol.13
, pp. 303-308
-
-
Perou, C.M.1
Moore, K.J.2
Nagle, D.L.3
Misumi, D.J.4
Woolf, E.A.5
McGrail, S.H.6
-
55
-
-
0030254776
-
Positional cloning of the Chédiak-Higashi syndrome gene: Genetic mapping of the beige locus to mouse chromosome 13
-
Kingsmore SF, Barbosa MDFS, Tchernev VT, Detter JC, Lossie AC, Seldin MF, Holcombe RF: Positional cloning of the Chédiak-Higashi syndrome gene: genetic mapping of the beige locus to mouse chromosome 13. J Invest Med 1996, 44:454-461.
-
(1996)
J Invest Med
, vol.44
, pp. 454-461
-
-
Kingsmore, S.F.1
Barbosa, M.D.F.S.2
Tchernev, V.T.3
Detter, J.C.4
Lossie, A.C.5
Seldin, M.F.6
Holcombe, R.F.7
-
56
-
-
15844397403
-
Identification of the homologous beige and Chédiak-Higashi syndrome genes
-
Barbosa MDFS, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, et al.: Identification of the homologous beige and Chédiak-Higashi syndrome genes. Nature 1996, 382:262-264.
-
(1996)
Nature
, vol.382
, pp. 262-264
-
-
Barbosa, M.D.F.S.1
Nguyen, Q.A.2
Tchernev, V.T.3
Ashley, J.A.4
Detter, J.C.5
Blaydes, S.M.6
-
57
-
-
0030293556
-
Identification and mutation analysis of the complete gene for Chédiak-Higashi syndrome
-
Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, et al.: Identification and mutation analysis of the complete gene for Chédiak- Higashi syndrome. Nat Genet 1996, 14:307-311.
-
(1996)
Nat Genet
, vol.14
, pp. 307-311
-
-
Nagle, D.L.1
Karim, M.A.2
Woolf, E.A.3
Holmgren, L.4
Bork, P.5
Misumi, D.J.6
-
58
-
-
8544220356
-
Identification of mutations in two major mRNA isoforms of the Chédiak-Higashi syndrome gene in human and mouse
-
Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, et al.: Identification of mutations in two major mRNA isoforms of the Chédiak-Higashi syndrome gene in human and mouse. Hum Mol Genet 1997, 6:1091-1098.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1091-1098
-
-
Barbosa, M.D.F.S.1
Barrat, F.J.2
Tchernev, V.T.3
Nguyen, Q.A.4
Mishra, V.S.5
Colman, S.D.6
-
59
-
-
0030752986
-
Mutations in the Chédiak-Higashi syndrome gene (CHS1) indicate requirement for the complets 3801 amino acid CHS protein
-
Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz RA: Mutations in the Chédiak-Higashi syndrome gene (CHS1) indicate requirement for the complets 3801 amino acid CHS protein. Hum Mol Genet 1997, 6:1087-1089.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1087-1089
-
-
Karim, M.A.1
Nagle, D.L.2
Kandil, H.H.3
Bürger, J.4
Moore, K.J.5
Spritz, R.A.6
-
60
-
-
0030693642
-
The beige/Chédiak-Higashi syndrome gene encodes a widely expressed cytosolic protein
-
Perou CM, Leslie JD, Green W, Li L, McVey Ward D, Kaplan J: The beige/Chédiak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem 1997, 272:29790-29794.
-
(1997)
J Biol Chem
, vol.272
, pp. 29790-29794
-
-
Perou, C.M.1
Leslie, J.D.2
Green, W.3
Li, L.4
McVey Ward, D.5
Kaplan, J.6
-
61
-
-
0032100704
-
Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: The Chédiak-Higashi syndrome
-
Faigle W, Raposo G, Tenza D, Pinet V, Vogt AB, Kropshofer H, et al.: Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chédiak-Higashi syndrome. J Cell Biol 1998, 141:1121-1134. • This paper provides a hypothesis on how mutations in the CHS1 gene can affect such divergent systems as melanin pigmentation and the immune response. The CHS1 product is shown to be involved in the intracellular sorting of endosomal proteins.
-
(1998)
J Cell Biol
, vol.141
, pp. 1121-1134
-
-
Faigle, W.1
Raposo, G.2
Tenza, D.3
Pinet, V.4
Vogt, A.B.5
Kropshofer, H.6
-
62
-
-
0028852091
-
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
-
Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, et al.: Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet 1995, 4:2319-2325.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2319-2325
-
-
Schiaffino, M.V.1
Bassi, M.T.2
Galli, L.3
Renieri, A.4
Bruttini, M.5
De Nigris, F.6
-
63
-
-
0029786525
-
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes
-
Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A: The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci U S A 1996, 93:9055-9060.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 9055-9060
-
-
Schiaffino, M.V.1
Baschirotto, C.2
Pellegrini, G.3
Montalti, S.4
Tacchetti, C.5
De Luca, M.6
Ballabio, A.7
-
64
-
-
0029059066
-
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
-
Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, et al.: Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 1995, 10:13-19.
-
(1995)
Nat Genet
, vol.10
, pp. 13-19
-
-
Bassi, M.T.1
Schiaffino, M.V.2
Renieri, A.3
De Nigris, F.4
Galli, L.5
Bruttini, M.6
-
65
-
-
0032447365
-
Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26
-
Kandpal JAN, Gill N, Kandpal RP: Toward expression mapping of albinism- deafness syndrome (ADFN) locus on chromosome Xq26. Somat Cell Mol Genet 1998, 24:135-140.
-
(1998)
Somat Cell Mol Genet
, vol.24
, pp. 135-140
-
-
Kandpal, J.A.N.1
Gill, N.2
Kandpal, R.P.3
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