Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
暂无分享,去创建一个
M. Brilliant | M. Davisson | J. Newton | R. King | N. Hagiwara | O. Cohen‐Barak | J. Gardner | Richard A. King
[1] A. Shimada,et al. Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka , 2001, Nature Genetics.
[2] S. Rosenberg,et al. Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells. , 2001, Cancer research.
[3] M. Brilliant,et al. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. , 2000, The Journal of investigative dermatology.
[4] W. Silvers,et al. The underwhite (uw) locus acts autonomously and reduces the production of melanin. , 2000, The Journal of investigative dermatology.
[5] R. Lemoine,et al. Sucrose transporters in plants: update on function and structure. , 2000, Biochimica et biophysica acta.
[6] E. Truernit,et al. The AtSUC1 sucrose carrier may represent the osmotic driving force for anther dehiscence and pollen tube growth in Arabidopsis. , 1999, The Plant journal : for cell and molecular biology.
[7] B. Weber,et al. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population , 1999, Human Genetics.
[8] H. Katayama,et al. Human AIM-1: cDNA cloning and reduced expression during endomitosis in megakaryocyte-lineage cells. , 1998, Gene.
[9] M. Brilliant,et al. A new allelic series for the underwhite gene on mouse chromosome 15. , 1998, The Journal of heredity.
[10] P. Meltzer,et al. Cloning and tissue expression of the mouse ortholog of AIM1, a βγ-crystallin superfamily member , 1998, Mammalian Genome.
[11] MH Brilliant,et al. Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2) , 1998 .
[12] W. Oetting,et al. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1) , 1998, Human mutation.
[13] J. Nordlund. The pigmentary system : physiology and pathophysiology , 1998 .
[14] M. Ramsay,et al. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. , 1997, American journal of human genetics.
[15] C. A. Ramsden,et al. Evidence of the Indirect Formation of the Catecholic Intermediate Substrate Responsible for the Autoactivation Kinetics of Tyrosinase* , 1997, The Journal of Biological Chemistry.
[16] I. Jackson,et al. Homologous pigmentation mutations in human, mouse and other model organisms. , 1997, Human molecular genetics.
[17] D. Mitchell,et al. Melanin: a two edged sword? , 1997, Pigment cell research.
[18] R. Sturm,et al. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". , 1996, American journal of human genetics.
[19] M. Frohman,et al. On beyond classic RACE (rapid amplification of cDNA ends). , 1994, PCR methods and applications.
[20] S. Orlow,et al. High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex. , 1994, The Journal of investigative dermatology.
[21] E. Hirose,et al. Deficiency of the gene B impairs differentiation of melanophores in the medaka fish, Oryzias latipes: fine structure studies. , 1993, Pigment cell research.
[22] R. Spritz,et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism , 1993, Nature.
[23] M. Lyon,et al. The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes , 1992, Science.
[24] A. Yamauchi,et al. Cloning of the cDNa for a Na+/myo-inositol cotransporter, a hypertonicity stress protein. , 1992, The Journal of biological chemistry.
[25] I. Jackson,et al. A second tyrosinase‐related protein, TRP‐2, is a melanogenic enzyme termed DOPAchrome tautomerase. , 1992, The EMBO journal.
[26] V. Hearing,et al. Enzymatic control of pigmentation in mammals , 1991, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[27] A. Takeda,et al. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. , 1989, Biochemical and biophysical research communications.
[28] I. Jackson,et al. A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[29] B. Kwon,et al. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. , 1987, Proceedings of the National Academy of Sciences of the United States of America.
[30] M. E. Clark,et al. Living with water stress: evolution of osmolyte systems. , 1982, Science.
[31] W. Silvers. The Coat Colors of Mice , 1979, Springer New York.