-
1
-
-
0032764095
-
The melanocortin-1 receptor and human pigmentation
-
T.A., Luger, R., Paus, J.M., Lipton, and A.T., Slominski, eds. (New York: Annals of the New York Academy of Sciences)
-
Abdel-Malek, Z., Suzuki, I., Tada, A., Im, S., and Akcali, C. (1999). The melanocortin-1 receptor and human pigmentation. In Cutaneous Neuroimmunomodulation: The Proopiomelanocortin System, T.A., Luger, R., Paus, J.M., Lipton, and A.T., Slominski, eds. (New York: Annals of the New York Academy of Sciences), pp. 117-133.
-
(1999)
Cutaneous Neuroimmunomodulation: The Proopiomelanocortin System
, pp. 117-133
-
-
Abdel-Malek, Z.1
Suzuki, I.2
Tada, A.3
Im, S.4
Akcali, C.5
-
2
-
-
0034650695
-
Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice
-
Adachi, S., Morii, E., Kim, D.K., Ogihara, H., Jippo, T., Ito, A., Lee, Y.M., and Kitamura, Y. (2000). Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice. J. Immunol. 164, 855-860.
-
(2000)
J. Immunol.
, vol.164
, pp. 855-860
-
-
Adachi, S.1
Morii, E.2
Kim, D.K.3
Ogihara, H.4
Jippo, T.5
Ito, A.6
Lee, Y.M.7
Kitamura, Y.8
-
3
-
-
0034920620
-
Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population
-
Akey, J.M., Wang, H., Xiong, M., Wu, H., Liu, W., Shriver, M.D., and Jin, L. (2001). Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum. Genet. 108, 516-520.
-
(2001)
Hum. Genet.
, vol.108
, pp. 516-520
-
-
Akey, J.M.1
Wang, H.2
Xiong, M.3
Wu, H.4
Liu, W.5
Shriver, M.D.6
Jin, L.7
-
4
-
-
0030879482
-
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
-
Albrecht, U., Sutcliffe, J.S., Cattanach, B.M., Beechey, C.V., Armstrong, D., Eichele, G., and Beaudet, A.L. (1997). Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat. Genet. 17, 75-78.
-
(1997)
Nat. Genet.
, vol.17
, pp. 75-78
-
-
Albrecht, U.1
Sutcliffe, J.S.2
Cattanach, B.M.3
Beechey, C.V.4
Armstrong, D.5
Eichele, G.6
Beaudet, A.L.7
-
5
-
-
0037144311
-
Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R)
-
Aoki, H., and Moro, O. (2002). Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R). Life Sci. 71, 2171-2179.
-
(2002)
Life Sci.
, vol.71
, pp. 2171-2179
-
-
Aoki, H.1
Moro, O.2
-
6
-
-
49849100725
-
Mdm2 induces mono-ubiquitination of FOXO4
-
Brenkman, A.B., De Keizer, P.L.J., Van Den Broek, N.J.F., Jochemsen, A.G., and Burgering, B.M.T. (2008). Mdm2 induces mono-ubiquitination of FOXO4. PLoS ONE 3, e2819.
-
(2008)
PLoS ONE
, vol.3
-
-
Brenkman, A.B.1
De Keizer, P.L.J.2
Van Den Broek, N.J.F.3
Jochemsen, A.G.4
Burgering, B.M.T.5
-
7
-
-
0025310643
-
A helix-loop-helix protein related to the immunoglobulin E box-binding proteins
-
Carr, C.S., and Sharp, P.A. (1990). A helix-loop-helix protein related to the immunoglobulin E box-binding proteins. Mol. Cell. Biol. 10, 4384-4388.
-
(1990)
Mol. Cell. Biol.
, vol.10
, pp. 4384-4388
-
-
Carr, C.S.1
Sharp, P.A.2
-
8
-
-
80053915175
-
-
In DNA Transfer to Cultured Cells: Calcium phosphate transfection, K., Ravid, and R.I., Fresney. (New York: Wiley-Liss).
-
Conn, K.J., Degterev, A., Fontanilla, M.R., Rich, C.B., and Foster, J.A. (1998). In DNA Transfer to Cultured Cells: Calcium phosphate transfection, K., Ravid, and R.I., Fresney. (New York: Wiley-Liss).
-
(1998)
-
-
Conn, K.J.1
Degterev, A.2
Fontanilla, M.R.3
Rich, C.B.4
Foster, J.A.5
-
9
-
-
0042322345
-
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene
-
Fridman, C., Hosomi, N., Varela, M.C., Souza, A.H., Fukai, K., and Koiffmann, C.P. (2003). Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am. J. Med. Genet. A 119A, 180-183.
-
(2003)
Am. J. Med. Genet. A
, vol.119
, pp. 180-183
-
-
Fridman, C.1
Hosomi, N.2
Varela, M.C.3
Souza, A.H.4
Fukai, K.5
Koiffmann, C.P.6
-
10
-
-
0032518262
-
MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes
-
Hemesath, T.J., Price, E.R., Takemoto, C., Badalian, T., and Fisher, D.E. (1998). MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature 391, 298-301.
-
(1998)
Nature
, vol.391
, pp. 298-301
-
-
Hemesath, T.J.1
Price, E.R.2
Takemoto, C.3
Badalian, T.4
Fisher, D.E.5
-
11
-
-
0028907874
-
A family of proteins structurally and functionally related to the E6-AP ubiquitin protein ligase
-
Huibregtse, J.M., Scheffner, M., Beaudenon, S., and Howley, P.M. (1995). A family of proteins structurally and functionally related to the E6-AP ubiquitin protein ligase. Proc. Natl Acad. Sci. USA 92, 2563-2567.
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 2563-2567
-
-
Huibregtse, J.M.1
Scheffner, M.2
Beaudenon, S.3
Howley, P.M.4
-
12
-
-
0029348767
-
Eumelanin and pheomelanin contents of human epidermis and cultured melanocytes
-
Hunt, G., Kyne, S., Ito, S., Wakamatsu, K., Todd, C., and Thody, A.J. (1995). Eumelanin and pheomelanin contents of human epidermis and cultured melanocytes. Pigment Cell Res. 8, 202-208.
-
(1995)
Pigment Cell Res.
, vol.8
, pp. 202-208
-
-
Hunt, G.1
Kyne, S.2
Ito, S.3
Wakamatsu, K.4
Todd, C.5
Thody, A.J.6
-
13
-
-
0041886412
-
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)
-
King, R.A., Willaert, R.K., Schmidt, R.M., Pietsch, J., Savage, S., Brott, M.J., Fryer, J.P., Summers, C.G., and Oetting, W.S. (2003). MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am. J. Hum. Genet. 73, 638-645.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 638-645
-
-
King, R.A.1
Willaert, R.K.2
Schmidt, R.M.3
Pietsch, J.4
Savage, S.5
Brott, M.J.6
Fryer, J.P.7
Summers, C.G.8
Oetting, W.S.9
-
14
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino, T., Lalande, M., and Wagstaff, J. (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nat. Genet. 15, 70-73.
-
(1997)
Nat. Genet.
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
15
-
-
20044374576
-
The E6AP ubiquitin ligase is required for transactivation of the hTERT promoter by the human papillomavirus E6 oncoprotein
-
Liu, X.F., Yuan, H., Fu, B.J., Disbrow, G.L., Apolinario, T., Tomaic, V., Kelley, M.L., Baker, C.C., Huibregtse, J., and Schlegel, R. (2005). The E6AP ubiquitin ligase is required for transactivation of the hTERT promoter by the human papillomavirus E6 oncoprotein. J. Biol. Chem. 280, 10807-10816.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 10807-10816
-
-
Liu, X.F.1
Yuan, H.2
Fu, B.J.3
Disbrow, G.L.4
Apolinario, T.5
Tomaic, V.6
Kelley, M.L.7
Baker, C.C.8
Huibregtse, J.9
Schlegel, R.10
-
16
-
-
18244383565
-
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
-
Lossie, A.C., Whitney, M.M., Amidon, D. et al. (2001). Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J. Med. Genet. 38, 834-845.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 834-845
-
-
Lossie, A.C.1
Whitney, M.M.2
Amidon, D.3
-
17
-
-
77958466458
-
Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation
-
Low, D., and Chen, K.S. (2010). Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation. Eur. J. Hum. Genet. 18, 1228-1235.
-
(2010)
Eur. J. Hum. Genet.
, vol.18
, pp. 1228-1235
-
-
Low, D.1
Chen, K.S.2
-
18
-
-
0033610058
-
Characterization of the promoter region of the human melanocortin-l receptor (MC1R) gene
-
Moro, O., Ideta, R., and Ifuku, O. (1999). Characterization of the promoter region of the human melanocortin-l receptor (MC1R) gene. Biochem. Biophys. Res. Commun. 262, 452-460.
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.262
, pp. 452-460
-
-
Moro, O.1
Ideta, R.2
Ifuku, O.3
-
19
-
-
22744450397
-
Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner
-
Murakami, H., and Arnheiter, H. (2005). Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner. Pigment Cell Res. 18, 265-277.
-
(2005)
Pigment Cell Res.
, vol.18
, pp. 265-277
-
-
Murakami, H.1
Arnheiter, H.2
-
20
-
-
0032907106
-
The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily
-
Nawaz, Z., Lonard, D.H., Smith, C.L., Lev-Lehman, E., Tsai, S.Y., Tsai, M.J., and O'malley, B.W. (1999). The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. Mol. Cell. Biol. 19, 1182-1189.
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 1182-1189
-
-
Nawaz, Z.1
Lonard, D.H.2
Smith, C.L.3
Lev-Lehman, E.4
Tsai, S.Y.5
Tsai, M.J.6
O'malley, B.W.7
-
21
-
-
0032541068
-
Lineage-specific signaling in melanocytes - c-Kit stimulation recruits p300/CBP to microphthalmia
-
Price, E.R., Ding, H.F., Badalian, T., Bhattacharya, S., Takemoto, C., Yao, T.P., Hemesath, T.J., and Fisher, D.E. (1998). Lineage-specific signaling in melanocytes - c-Kit stimulation recruits p300/CBP to microphthalmia. J. Biol. Chem. 273, 17983-17986.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 17983-17986
-
-
Price, E.R.1
Ding, H.F.2
Badalian, T.3
Bhattacharya, S.4
Takemoto, C.5
Yao, T.P.6
Hemesath, T.J.7
Fisher, D.E.8
-
22
-
-
0018854108
-
Recent advances in the chemistry of melanogenesis in mammals
-
Prota, G. (1980). Recent advances in the chemistry of melanogenesis in mammals. J. Invest. Dermatol. 75, 122-127.
-
(1980)
J. Invest. Dermatol.
, vol.75
, pp. 122-127
-
-
Prota, G.1
-
23
-
-
0025351398
-
Mechanism of transcriptional activation by SP1 - evidence for coactivators
-
Pugh, B.F., and Tjian, R. (1990). Mechanism of transcriptional activation by SP1 - evidence for coactivators. Cell 61, 1187-1197.
-
(1990)
Cell
, vol.61
, pp. 1187-1197
-
-
Pugh, B.F.1
Tjian, R.2
-
25
-
-
0037351881
-
Cyclic, proteasome-mediated turnover of unliganded and liganded ER alpha on responsive promoters is an integral feature of estrogen signaling
-
Reid, G., Hubner, M.R., Metivier, R., Brand, H., Denger, S., Manu, D., Beaudouin, J., Ellenberg, J., and Gannon, F. (2003). Cyclic, proteasome-mediated turnover of unliganded and liganded ER alpha on responsive promoters is an integral feature of estrogen signaling. Mol. Cell 11, 695-707.
-
(2003)
Mol. Cell
, vol.11
, pp. 695-707
-
-
Reid, G.1
Hubner, M.R.2
Metivier, R.3
Brand, H.4
Denger, S.5
Manu, D.6
Beaudouin, J.7
Ellenberg, J.8
Gannon, F.9
-
26
-
-
0031228039
-
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
-
Rougeulle, C., Glatt, H., and Lalande, M. (1997). The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat. Genet. 17, 14-15.
-
(1997)
Nat. Genet.
, vol.17
, pp. 14-15
-
-
Rougeulle, C.1
Glatt, H.2
Lalande, M.3
-
27
-
-
0028064274
-
Molecular and clinical study of 61 Angelman syndrome patients
-
Saitoh, S., Harada, N., Jinno, Y. et al. (1994). Molecular and clinical study of 61 Angelman syndrome patients. Am. J. Med. Genet. 52, 158-163.
-
(1994)
Am. J. Med. Genet.
, vol.52
, pp. 158-163
-
-
Saitoh, S.1
Harada, N.2
Jinno, Y.3
-
28
-
-
0034017934
-
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome
-
Saitoh, S., Oiso, N., Wada, T., Narazaki, O., and Fukai, K. (2000). Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. J. Med. Genet. 37, 392-394.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 392-394
-
-
Saitoh, S.1
Oiso, N.2
Wada, T.3
Narazaki, O.4
Fukai, K.5
-
29
-
-
0027358723
-
The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of P53
-
Scheffner, M., Huibregtse, J.M., Vierstra, R.D., and Howley, P.M. (1993). The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of P53. Cell 75, 495-505.
-
(1993)
Cell
, vol.75
, pp. 495-505
-
-
Scheffner, M.1
Huibregtse, J.M.2
Vierstra, R.D.3
Howley, P.M.4
-
30
-
-
0028898424
-
Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
-
Scheffner, M., Nuber, U., and Huibregtse, J.M. (1995). Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature 373, 81-83.
-
(1995)
Nature
, vol.373
, pp. 81-83
-
-
Scheffner, M.1
Nuber, U.2
Huibregtse, J.M.3
-
31
-
-
0030922598
-
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele
-
Spritz, R.A., Bailin, T., Nicholls, R.D., Lee, S.T., Park, S.K.M., Mascari, M.J., and Butler, M.G. (1997). Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. American Journal of Medical Genetics 71, 57-62.
-
(1997)
American Journal of Medical Genetics
, vol.71
, pp. 57-62
-
-
Spritz, R.A.1
Bailin, T.2
Nicholls, R.D.3
Lee, S.T.4
Park, S.K.M.5
Mascari, M.J.6
Butler, M.G.7
-
32
-
-
0030969388
-
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation
-
Stevens, G., Ramsay, M., and Jenkins, T. (1997). Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. Hum. Genet. 99, 523-527.
-
(1997)
Hum. Genet.
, vol.99
, pp. 523-527
-
-
Stevens, G.1
Ramsay, M.2
Jenkins, T.3
-
33
-
-
33644865491
-
Angelman syndrome 2005: updated consensus for diagnostic criteria
-
Williams, C.A., Beaudet, A.L., Clayton-Smith, J. et al. (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. Am. J. Med. Genet. A 140A, 413-418.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 413-418
-
-
Williams, C.A.1
Beaudet, A.L.2
Clayton-Smith, J.3
-
34
-
-
0034653813
-
Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin-conjugating enzyme hUBC9
-
Xu, W.D., Gong, L.M., Haddad, M.M., Bischof, O., Campisi, J., Yeh, E.T.H., and Medrano, E.E. (2000). Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin-conjugating enzyme hUBC9. Exp. Cell Res. 255, 135-143.
-
(2000)
Exp. Cell Res.
, vol.255
, pp. 135-143
-
-
Xu, W.D.1
Gong, L.M.2
Haddad, M.M.3
Bischof, O.4
Campisi, J.5
Yeh, E.T.H.6
Medrano, E.E.7
|