-
1
-
-
0027996958
-
Molecular basis of human piebaldism
-
Spritz R.A. Molecular basis of human piebaldism. J. Invest. Dermatol. 103(Suppl.):1994;137-140.
-
(1994)
J. Invest. Dermatol.
, vol.103
, Issue.SUPPL.
, pp. 137-140
-
-
Spritz, R.A.1
-
2
-
-
18444418797
-
Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability
-
This report describes a microarray analysis undertaken to identify Mitf-dependent Kit transcriptional targets in primary melanocytes. Among identified targets was Bcl2, germline deletion of which results in melanocyte loss and phenotypic synergy with Mitf in mice. Mitf and Bcl2 were found to interact genetically in vivo, via transcriptional regulation of Bcl2 by Mitf. Modulation of Blc2 expression was shown to be critical for melanocyte and melanoma survival.
-
McGill G.G., Horstmann M., Widlund H.R., Du J., Motyckova G., Nishimura E.K., Lin Y.L., Ramaswamy S., Avery W., Ding H.F.et al. Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell. 109:2002;707-718 This report describes a microarray analysis undertaken to identify Mitf-dependent Kit transcriptional targets in primary melanocytes. Among identified targets was Bcl2, germline deletion of which results in melanocyte loss and phenotypic synergy with Mitf in mice. Mitf and Bcl2 were found to interact genetically in vivo, via transcriptional regulation of Bcl2 by Mitf. Modulation of Blc2 expression was shown to be critical for melanocyte and melanoma survival.
-
(2002)
Cell
, vol.109
, pp. 707-718
-
-
McGill, G.G.1
Horstmann, M.2
Widlund, H.R.3
Du, J.4
Motyckova, G.5
Nishimura, E.K.6
Lin, Y.L.7
Ramaswamy, S.8
Avery, W.9
Ding, H.F.10
-
3
-
-
0036898925
-
SLUG (SNAI2) deletions in patients with Waardenburg disease
-
This report established locus heterogeneity for WS2 and demonstrated an essential role for SLUG in the development of neural-crest-derived melanocytes in humans. The authors further showed that MITF transactivates the SLUG promoter, and that SLUG and KIT interact genetically in vivo.
-
Sanchez-Martin M., Rodriguez-Garcia A., Perez-Losada J., Sagrera A., Read A.P., Sanchez-Garcia I. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum. Mol. Genet. 11:2002;3231-3236 This report established locus heterogeneity for WS2 and demonstrated an essential role for SLUG in the development of neural-crest-derived melanocytes in humans. The authors further showed that MITF transactivates the SLUG promoter, and that SLUG and KIT interact genetically in vivo.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3231-3236
-
-
Sanchez-Martin, M.1
Rodriguez-Garcia, A.2
Perez-Losada, J.3
Sagrera, A.4
Read, A.P.5
Sanchez-Garcia, I.6
-
4
-
-
0033854056
-
MITF: A stream flowing for pigment cells
-
Tachibana M. MITF: a stream flowing for pigment cells. Pigment Cell Res. 13:2000;230-240.
-
(2000)
Pigment Cell Res.
, vol.13
, pp. 230-240
-
-
Tachibana, M.1
-
5
-
-
0034806070
-
EDNRB/EDN3 and Hirschsprung disease type II
-
McCallion A.S., Chakravarti A. EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res. 14:2001;161-169.
-
(2001)
Pigment Cell Res.
, vol.14
, pp. 161-169
-
-
McCallion, A.S.1
Chakravarti, A.2
-
6
-
-
0034756577
-
Survival and glial fate acquisition of neural crest cells are regulated by an interplay between the transcription factor Sox10 and extrinsic combinatorial signaling
-
Paratore C., Goerich D.E., Suter U., Wegner M., Sommer L. Survival and glial fate acquisition of neural crest cells are regulated by an interplay between the transcription factor Sox10 and extrinsic combinatorial signaling. Development. 128:2001;3949-3961.
-
(2001)
Development
, vol.128
, pp. 3949-3961
-
-
Paratore, C.1
Goerich, D.E.2
Suter, U.3
Wegner, M.4
Sommer, L.5
-
7
-
-
0033815395
-
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation
-
Oetting W.S. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): a model for understanding the molecular biology of melanin formation. Pigment Cell Res. 13:2000;320-325.
-
(2000)
Pigment Cell Res.
, vol.13
, pp. 320-325
-
-
Oetting, W.S.1
-
8
-
-
0035088810
-
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH
-
Brilliant M.N. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 14:2001;86-93.
-
(2001)
Pigment Cell Res.
, vol.14
, pp. 86-93
-
-
Brilliant, M.N.1
-
9
-
-
0036016306
-
The etiology of oculocutaneous albinism (OCA) type II: The pink protein modulates the processing and transport of tyrosinase
-
Toyofuku K., Valencia J.C., Kushimoto T., Costin G.-E., Virador V.M., Vieira W.D., Ferrans V.J., Hearing V.J. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 15:2002;217-224.
-
(2002)
Pigment Cell Res.
, vol.15
, pp. 217-224
-
-
Toyofuku, K.1
Valencia, J.C.2
Kushimoto, T.3
Costin, G.-E.4
Virador, V.M.5
Vieira, W.D.6
Ferrans, V.J.7
Hearing, V.J.8
-
10
-
-
0037219561
-
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population
-
The prevalence of OCA is high among some native American tribes. This paper identifies a LINE-mediated deletion of the P gene in Navajo, with a carrier frequency of 4.5%. This deletion was not found in other native American tribes with a high frequency of OCA.
-
Yi Z., Garrison N., Cohen-Barak O., Karafet T.M., King R.A., Erickson R.P., Hammer M.F., Brilliant M.H. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Am. J. Hum. Genet. 72:2003;62-72 The prevalence of OCA is high among some native American tribes. This paper identifies a LINE-mediated deletion of the P gene in Navajo, with a carrier frequency of 4.5%. This deletion was not found in other native American tribes with a high frequency of OCA.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 62-72
-
-
Yi, Z.1
Garrison, N.2
Cohen-Barak, O.3
Karafet, T.M.4
King, R.A.5
Erickson, R.P.6
Hammer, M.F.7
Brilliant, M.H.8
-
11
-
-
0035542883
-
Tyrp1 and oculocutaneous albinism type 3
-
Sarangarajan R., Boissy R.E. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 14:2001;437-444.
-
(2001)
Pigment Cell Res.
, vol.14
, pp. 437-444
-
-
Sarangarajan, R.1
Boissy, R.E.2
-
12
-
-
0034806114
-
Oculocutaneous albinism type 1 and 3 are ER retention diseases: Mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins
-
Toyofuku K., Wada I., Valencia J.C., Kushimoto T., Ferrans V.J., Hearing V.J. Oculocutaneous albinism type 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins. FASEB J. 15:2001;2149-2161.
-
(2001)
FASEB J.
, vol.15
, pp. 2149-2161
-
-
Toyofuku, K.1
Wada, I.2
Valencia, J.C.3
Kushimoto, T.4
Ferrans, V.J.5
Hearing, V.J.6
-
13
-
-
0034753365
-
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
-
The authors of this paper describe the positional cloning of the mouse coat color mutant underwhite gene (Matp). As underwhite is a potential model for human OCA, the authors analyzed the human MATP homologue in OCA patients, and identified pathologic mutations in one family.
-
Newton J.M., Cohen-Barak O., Hagiwara N., Gardner J.M., Davisson M.T., King R.A., Brilliant M.H. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am. J. Hum. Genet. 69:2001;981-988 The authors of this paper describe the positional cloning of the mouse coat color mutant underwhite gene (Matp). As underwhite is a potential model for human OCA, the authors analyzed the human MATP homologue in OCA patients, and identified pathologic mutations in one family.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 981-988
-
-
Newton, J.M.1
Cohen-Barak, O.2
Hagiwara, N.3
Gardner, J.M.4
Davisson, M.T.5
King, R.A.6
Brilliant, M.H.7
-
14
-
-
0037016715
-
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF
-
In this report, the mouse homolog of the Medaka fish B-locus is identified as underwhite. The authors identify mutations of this gene, variously known as Matp and Aim1, in three mouse underwhite alleles and find that structure/function differences correlate with recessive versus dominant inheritance. The authors also provide evidence that Matp/Aim1 is transcriptionally modulated by MITF, linking MATP/AIM1 expression and the underwhite phenotype to a transcriptional network central to mammalian pigmentation.
-
Du J., Fisher D.E. Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J. Biol. Chem. 277:2002;402-406 In this report, the mouse homolog of the Medaka fish B-locus is identified as underwhite. The authors identify mutations of this gene, variously known as Matp and Aim1, in three mouse underwhite alleles and find that structure/function differences correlate with recessive versus dominant inheritance. The authors also provide evidence that Matp/Aim1 is transcriptionally modulated by MITF, linking MATP/AIM1 expression and the underwhite phenotype to a transcriptional network central to mammalian pigmentation.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 402-406
-
-
Du, J.1
Fisher, D.E.2
-
15
-
-
0034928757
-
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
-
The authors of this paper describe positional cloning of the Medaka fish B-locus color mutant, and its identification as Matp, the homologue of the human OCA4 locus.
-
Fukamachi S., Shimada A., Shima A. Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat. Genet. 28:2001;381-385 The authors of this paper describe positional cloning of the Medaka fish B-locus color mutant, and its identification as Matp, the homologue of the human OCA4 locus.
-
(2001)
Nat. Genet.
, vol.28
, pp. 381-385
-
-
Fukamachi, S.1
Shimada, A.2
Shima, A.3
-
16
-
-
0036428014
-
The molecular machinery for the biogenesis of lysosome-related organelles: Lessons from Hermansky-Pudlak syndrome
-
Starcevic M., Nazarian R., Dell'Angelica E. The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. Semin. Cell Dev. Biol. 13:2002;271-278.
-
(2002)
Semin. Cell Dev. Biol.
, vol.13
, pp. 271-278
-
-
Starcevic, M.1
Nazarian, R.2
Dell'Angelica, E.3
-
17
-
-
18744385809
-
Hermansky-Pudlak syndrome: Vesicle formation from yeast to man
-
Huizing M., Boissy R.E., Gahl W.A. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res. 15:2002;405-419.
-
(2002)
Pigment Cell Res.
, vol.15
, pp. 405-419
-
-
Huizing, M.1
Boissy, R.E.2
Gahl, W.A.3
-
18
-
-
0034928726
-
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
-
A description of positional cloning of the HPS3 gene on the basis of homozygosity mapping using pooled DNA of six families from central Puerto Rico. The mutation is a large deletion and represents the second example of a founder effect causing HPS in 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. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat. Genet. 28:2001;376-380 A description of positional cloning of the HPS3 gene on the basis of homozygosity mapping using pooled DNA of six families from central Puerto Rico. The mutation is a large deletion and represents the second example of a founder effect causing HPS in Puerto Rico.
-
(2001)
Nat. Genet.
, 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
-
19
-
-
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., Gahl W.A. 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. 69:2001;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.9
Gahl, W.A.10
-
20
-
-
0034760556
-
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene
-
Suzuki T., Li W., Zhang Q., Novak E.K., Sviderskaya E.V., Wilson A., Bennett D.C., Roe B.A., Swank R.T., Spritz R.A. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics. 78:2001;30-37.
-
(2001)
Genomics
, vol.78
, pp. 30-37
-
-
Suzuki, T.1
Li, W.2
Zhang, Q.3
Novak, E.K.4
Sviderskaya, E.V.5
Wilson, A.6
Bennett, D.C.7
Roe, B.A.8
Swank, R.T.9
Spritz, R.A.10
-
21
-
-
18544384692
-
Hermansky-Pudlak syndrome is caused by mutation in HPS4, the human homolog of the mouse light-ear gene
-
This paper describes the positional cloning of the mouse light-ear locus, which exhibits a mutant phenotype identical to that of mouse pale-ear, which is homologous to HPS1. The authors identify mutations of the human light-ear homologue (HPS4), and suggest that mutations of HPS4 may be one of the most common causes of HPS among non-Puerto Rican patients. Interestingly, the HPS1 protein was absent in tissues of light-ear mutant mice, suggesting that the HPS1 and HPS4 proteins may function in the same pathway of organelle biogenesis.
-
Suzuki T., Li W., Zhang Q., Karim A., Novak E.K., Sviderskaya E.V., Hill S.P., Bennett D.C., Levin A.V., Nieuwenhuis H.K.et al. Hermansky-Pudlak syndrome is caused by mutation in HPS4, the human homolog of the mouse light-ear gene. Nat. Genet. 30:2002;321-324 This paper describes the positional cloning of the mouse light-ear locus, which exhibits a mutant phenotype identical to that of mouse pale-ear, which is homologous to HPS1. The authors identify mutations of the human light-ear homologue (HPS4), and suggest that mutations of HPS4 may be one of the most common causes of HPS among non-Puerto Rican patients. Interestingly, the HPS1 protein was absent in tissues of light-ear mutant mice, suggesting that the HPS1 and HPS4 proteins may function in the same pathway of organelle biogenesis.
-
(2002)
Nat. Genet.
, vol.30
, pp. 321-324
-
-
Suzuki, T.1
Li, W.2
Zhang, Q.3
Karim, A.4
Novak, E.K.5
Sviderskaya, E.V.6
Hill, S.P.7
Bennett, D.C.8
Levin, A.V.9
Nieuwenhuis, H.K.10
-
22
-
-
0037312933
-
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
-
The authors of this paper describe the positional cloning of the mouse phenocopy pigmentation mutants ruby eye 2 and ruby-eye, and the identification of mutations in the human ruby eye 2 and ruby-eye homologues, HPS5 and HPS6. Analysis using a yeast two-hybrid system demonstrated direct interaction between the mouse HPS5 and HPS6 proteins.
-
Zhang Q., Zhao B., Li W., Oiso N., Novak E.K., Rusiniak M.E., Gautam R., Chintala S., O'Brien E.P., Zhang Y.et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat. Genet. 33:2003;145-153 The authors of this paper describe the positional cloning of the mouse phenocopy pigmentation mutants ruby eye 2 and ruby-eye, and the identification of mutations in the human ruby eye 2 and ruby-eye homologues, HPS5 and HPS6. Analysis using a yeast two-hybrid system demonstrated direct interaction between the mouse HPS5 and HPS6 proteins.
-
(2003)
Nat. Genet.
, vol.33
, pp. 145-153
-
-
Zhang, Q.1
Zhao, B.2
Li, W.3
Oiso, N.4
Novak, E.K.5
Rusiniak, M.E.6
Gautam, R.7
Chintala, S.8
O'Brien, E.P.9
Zhang, Y.10
-
23
-
-
0035989918
-
Chediak-Higashi syndrome: A rare disorder of lysosomes and lysosome related organelles
-
Shiflett S.L., Kaplan J., Ward D.M. Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res. 15:2002;251-257.
-
(2002)
Pigment Cell Res.
, vol.15
, pp. 251-257
-
-
Shiflett, S.L.1
Kaplan, J.2
Ward, D.M.3
-
24
-
-
0036253771
-
The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins
-
Tchernev V.T., Mansfield T.A., Giot L., Kumar A.M., Nandabalan K., Li Y., Mishra V.S., Detter J.C., Rohberg J.M., Wallace M.R.et al. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol. Med. 8:2002;56-64.
-
(2002)
Mol. Med.
, vol.8
, pp. 56-64
-
-
Tchernev, V.T.1
Mansfield, T.A.2
Giot, L.3
Kumar, A.M.4
Nandabalan, K.5
Li, Y.6
Mishra, V.S.7
Detter, J.C.8
Rohberg, J.M.9
Wallace, M.R.10
-
25
-
-
0037087632
-
The gene for muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defined a novel protein which regulates vesicle trafficking
-
Zhang Q., Li W., Novak E.K., Karim A., Mishra V.S., Kingsmore S.F., Roe B.A., Suzuki T., Swank R.T. The gene for muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defined a novel protein which regulates vesicle trafficking. Hum. Mol. Genet. 11:2002;697-706.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 697-706
-
-
Zhang, Q.1
Li, W.2
Novak, E.K.3
Karim, A.4
Mishra, V.S.5
Kingsmore, S.F.6
Roe, B.A.7
Suzuki, T.8
Swank, R.T.9
-
26
-
-
0037007022
-
Mutation of melanosome protein RAB38 in chocolate mice
-
Loftus S.K., Larson D.M., Baxter L.L., Antonellis A., Chen Y., Wu X., Jiang Y., Bittner M., Hammer J.A. III, Pavan W.J. Mutation of melanosome protein RAB38 in chocolate mice. Proc. Natl. Acad. Sci. U.S.A. 99:2002;4471-4476.
-
(2002)
Proc. Natl. Acad. Sci. U.S.A.
, vol.99
, pp. 4471-4476
-
-
Loftus, S.K.1
Larson, D.M.2
Baxter, L.L.3
Antonellis, A.4
Chen, Y.5
Wu, X.6
Jiang, Y.7
Bittner, M.8
Hammer J.A. III9
Pavan, W.J.10
-
27
-
-
0037417972
-
The mouse organellar biogenesis mutant buff (bf) results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation
-
Suzuki T., Oiso N., Gautam R., Novak E.K., Panthier J.-J., Suprabha P.G., Vida T., Swank R.T., Spritz R.A. The mouse organellar biogenesis mutant buff (bf) results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc. Natl. Acad. Sci. U.S.A. 100:2003;1146-1150.
-
(2003)
Proc. Natl. Acad. Sci. U.S.A.
, vol.100
, pp. 1146-1150
-
-
Suzuki, T.1
Oiso, N.2
Gautam, R.3
Novak, E.K.4
Panthier, J.-J.5
Suprabha, P.G.6
Vida, T.7
Swank, R.T.8
Spritz, R.A.9
-
28
-
-
18744403672
-
Melanosome morphologies in murine models of Hermansky-Pudlak syndrome reflect blocks in organelle development
-
Nguyen T., Novak E.K., Kermani M., Fluhr J., Peters L.L., Swank R.T., Wei M.L. Melanosome morphologies in murine models of Hermansky-Pudlak syndrome reflect blocks in organelle development. J. Invest Dermatol. 119:2002;1156-1164.
-
(2002)
J. Invest Dermatol.
, vol.119
, pp. 1156-1164
-
-
Nguyen, T.1
Novak, E.K.2
Kermani, M.3
Fluhr, J.4
Peters, L.L.5
Swank, R.T.6
Wei, M.L.7
-
30
-
-
0037986326
-
Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families
-
Alkhateeb A., Fain P.R., Thody A., Bennett D.C., Spritz R.A. Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res. 16:2003;208-214.
-
(2003)
Pigment Cell Res.
, vol.16
, pp. 208-214
-
-
Alkhateeb, A.1
Fain, P.R.2
Thody, A.3
Bennett, D.C.4
Spritz, R.A.5
-
31
-
-
0035999737
-
Genetic association of the catalase gene (CAT) with vitiligo susceptibility
-
Casp C.B., She J.-X., McCormack W.T. Genetic association of the catalase gene (CAT) with vitiligo susceptibility. Pigment Cell Res. 15:2002;62-66.
-
(2002)
Pigment Cell Res.
, vol.15
, pp. 62-66
-
-
Casp, C.B.1
She, J.-X.2
McCormack, W.T.3
-
32
-
-
0036015671
-
Association between catechol-O-methyltransferase polymorphism and vitiligo
-
Tursen U., Kaya T.I., Erdal M.E., Derici E., Gunduz O., Ikizoilu G. Association between catechol-O-methyltransferase polymorphism and vitiligo. Arch. Dermatol. Res. 294:2002;143-146.
-
(2002)
Arch. Dermatol. Res.
, vol.294
, pp. 143-146
-
-
Tursen, U.1
Kaya, T.I.2
Erdal, M.E.3
Derici, E.4
Gunduz, O.5
Ikizoilu, G.6
-
33
-
-
0034819257
-
Linkage and association of HLA class II genes with vitiligo in a Dutch population
-
Zamani M., Spaepen M., Sghar S.S., Huang C., Westerhof W., Nieuweboer-Krobotova L., Cassiman J.J. Linkage and association of HLA class II genes with vitiligo in a Dutch population. Br. J. Dermatol. 145:2001;90-94.
-
(2001)
Br. J. Dermatol.
, vol.145
, pp. 90-94
-
-
Zamani, M.1
Spaepen, M.2
Sghar, S.S.3
Huang, C.4
Westerhof, W.5
Nieuweboer-Krobotova, L.6
Cassiman, J.J.7
-
34
-
-
0036556302
-
Vitiligo: Complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA
-
Arcos-Burgos M., Parodi E., Salgar M., Bedoya E., Builes J.J., Jaramillo D., Ceballos G., Uribe A., Rivera N., Rivera D.et al. Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA. Hum. Genet. 110:2002;334-342.
-
(2002)
Hum. Genet.
, vol.110
, pp. 334-342
-
-
Arcos-Burgos, M.1
Parodi, E.2
Salgar, M.3
Bedoya, E.4
Builes, J.J.5
Jaramillo, D.6
Ceballos, G.7
Uribe, A.8
Rivera, N.9
Rivera, D.10
-
35
-
-
18344388283
-
Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-32.2
-
A description of the first genome scan for vitiligo, in a large family with 13 affected. The authors map an autoimmunity susceptibility locus, AIS1, to chromosome 1p. A two-locus analysis of this family indicates that AIS1 cooperates with a locus on chromosome 6 to mediate autoimmune thyroid disease in this family.
-
Alkhateeb A., Stetler G., Old W., Talbert J., Uhlhorn C., Tylor M., Fox A., Cynthia M., Dills D.G., Ridgway E.C.et al. Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-32.2. Hum Mol. Genet. 11:2002;661-667 A description of the first genome scan for vitiligo, in a large family with 13 affected. The authors map an autoimmunity susceptibility locus, AIS1, to chromosome 1p. A two-locus analysis of this family indicates that AIS1 cooperates with a locus on chromosome 6 to mediate autoimmune thyroid disease in this family.
-
(2002)
Hum Mol. Genet.
, vol.11
, pp. 661-667
-
-
Alkhateeb, A.1
Stetler, G.2
Old, W.3
Talbert, J.4
Uhlhorn, C.5
Tylor, M.6
Fox, A.7
Cynthia, M.8
Dills, D.G.9
Ridgway, E.C.10
-
36
-
-
0038692071
-
Confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci
-
in press
-
Fain PR, Gowan K, LaBerge GS, Alkhateeb A, Stetler GL, Talbert J, Bennett DC, Spritz RA: Confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci. Am J Hum Genet 2003, 72: in press.
-
(2003)
Am J Hum Genet
, pp. 72
-
-
Fain, P.R.1
Gowan, K.2
LaBerge, G.S.3
Alkhateeb, A.4
Stetler, G.L.5
Talbert, J.6
Bennett, D.C.7
Spritz, R.A.8
-
37
-
-
18744416639
-
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. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum. Mutat. 20:2002;482.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 482
-
-
Hermos, C.R.1
Huizing, M.2
Kaiser-Kupfer, M.I.3
Gahl, W.A.4
-
38
-
-
0037666799
-
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics
-
Mar 27; [epub ahead of print]
-
Anderson PD, Huizing M, Claassen DA, White J, Gahl WA: Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet 2003, Mar 27; [epub ahead of print].
-
(2003)
Hum Genet
-
-
Anderson, P.D.1
Huizing, M.2
Claassen, D.A.3
White, J.4
Gahl, W.A.5
-
39
-
-
0038713390
-
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
-
Mar 27; [epub ahead of print]
-
Chiang PW, Oiso N, Gautam R, Swank RT, Spritz RA: The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 2003, Mar 27; [epub ahead of print].
-
(2003)
J Biol Chem
-
-
Chiang, P.W.1
Oiso, N.2
Gautam, R.3
Swank, R.T.4
Spritz, R.A.5
|