Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Huiquan, Zhao"'
Publikováno v:
Clinical Genetics. 64:57-64
A sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA) was developed using a long-range PCR template. This protocol has an advantage of greater DNA yields over similar strategies. Seven Gaucher's disease patients had four novel and fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cafda31521aef0a8cad4842d88c51996
https://doi.org/10.1034/j.1399-0004.2003.00100.x
https://doi.org/10.1034/j.1399-0004.2003.00100.x
Publikováno v:
Blood Cells, Molecules, and Diseases. 30:90-96
The clinical impact of neutralizing antibodies directed against the therapeutic enzyme was investigated in patients with Gaucher disease. Two patients with Gaucher disease type 1 were followed for their clinical progression during antibody developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b13a423687dcc5a8c5190212cb3745be
https://doi.org/10.1016/s1079-9796(03)00012-3
https://doi.org/10.1016/s1079-9796(03)00012-3
Publikováno v:
Journal of Investigative Dermatology. 106(4):744-752
A human tyrosinase-related protein-1 (TRP-1) cDNA was inserted into the retroviral vector, pBAbe-puro. Sense and anti-sense constructs were identified and transfected, as well as vector-alone, into a retrovirus packaging cell line by a liposome-media
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dcfc7448c95bfe80e084986645ed06c
Publikováno v:
Pigment Cell Research. 7:131-140
Human TRP-1 has been immunopurified from normal human melanocytes cultured from black neonatal subjects and used to investigate the catalytic function of TRP-1 for the two substrates, L-tyrosine and L-DOPA. Immunopurified TRP-1 did not demonstrate DO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eaee25dd41f4d9ab97f5bd7ef4bbcbb
https://doi.org/10.1111/j.1600-0749.1994.tb00040.x
https://doi.org/10.1111/j.1600-0749.1994.tb00040.x
Autor:
Cynthia E. Collins, James J. Nordlund, Huiquan Zhao, Raymond E. Boissy, Viki B. Swope, Zalfa A. Abdel-Malek
Publikováno v:
Journal of Cell Science. 106:1323-1331
Human melanocytes from individuals with different skin types, as well as from the skin of the same individual, are heterogeneous in their melanin content. This heterogeneity may be attributed to differences in the activity and expression of the three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42ca836bf1dc80a60c301577f3c1e010
https://doi.org/10.1242/jcs.106.4.1323
https://doi.org/10.1242/jcs.106.4.1323
Autor:
Edward A. Searle, Huiquan Zhao, James J. Nordlund, Raymond E. Boissy, Ying L. Boissy, Lisa M. Austin
Publikováno v:
Pigment Cell Research. 6:145-157
Smyth line (SL) chickens, which develop a depigmenting disorder similar to human vitiligo, produce circulating anti-melanocyte antibodies (Austin, L.M. et al., (1992) The detection of melanocyte autoantibodies in the Smyth chicken model for vitiligo.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91e55ebb69443a9a89646fa04d7474b
https://doi.org/10.1111/j.1600-0749.1993.tb00594.x
https://doi.org/10.1111/j.1600-0749.1993.tb00594.x
Publikováno v:
Investigative ophthalmologyvisual science. 47(10)
PURPOSE Whereas cutaneous pigmentation increases after exposure to ultraviolet (UV) irradiation, ocular pigmentation does not. This study was designed to examine the evidence that alpha-melanocyte-stimulating hormone (alpha-MSH), which is thought to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b19b4c442aca023645ea78703eb631
https://pubmed.ncbi.nlm.nih.gov/17003446
https://pubmed.ncbi.nlm.nih.gov/17003446
Publikováno v:
Blood cells, moleculesdiseases. 30(1)
The clinical impact of neutralizing antibodies directed against the therapeutic enzyme was investigated in patients with Gaucher disease. Two patients with Gaucher disease type 1 were followed for their clinical progression during antibody developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3f84878575de0798c04e6a5192d339ea
https://pubmed.ncbi.nlm.nih.gov/12667990
https://pubmed.ncbi.nlm.nih.gov/12667990
Publikováno v:
American journal of medical genetics. Part A. (1)
Gaucher disease, a common lysosomal storage disorder, is associated with mutations at the acid beta-glucosidase (GCase) locus. Two affected individuals are described to share a common mutant allele, but manifest different clinical categorical phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2ce73811dd66543e4d36fbbc905fb6
https://pubmed.ncbi.nlm.nih.gov/12476451
https://pubmed.ncbi.nlm.nih.gov/12476451
Publikováno v:
Experimental dermatology. 7(4)
Tyrosinase related protein-1 is a melanocyte specific protein and a member of the tyrosinase gene family which also includes tyrosinase and TRP 2 (DOPAchrome tautomerase). In murine melanocytes, TRP-1 functions as a 5,6-dihydroxyindole-2-carboxylic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20f6e02de97bdc8daef59007de16cd8b
https://pubmed.ncbi.nlm.nih.gov/9758418
https://pubmed.ncbi.nlm.nih.gov/9758418