Molecular Basis of α1-Antitrypsin Deficiency and its Potential Therapy by Gene Transfer

1986 ◽  
pp. 85-91
Author(s):  
F. D. Ledley ◽  
S. L. C. Woo
Keyword(s):  
Gene Transfer ◽  
Molecular Basis ◽  
Antitrypsin Deficiency

scholarly journals Molecular Basis of the Liver and Lung Disease Associated with the α1-Antitrypsin Deficiency Allele Mmalton

1989 ◽  
Vol 264 (23) ◽  
pp. 13938-13945
Author(s):  
D T Curiel ◽  
M D Holmes ◽  
H Okayama ◽  
M L Brantly ◽  
C Vogelmeier ◽  
...  
Keyword(s):  
Lung Disease ◽  
Molecular Basis ◽  
Antitrypsin Deficiency

scholarly journals Molecular basis of α 1 ‐antitrypsin deficiency revealed by the structure of a domain‐swapped trimer

EMBO Reports ◽  
2011 ◽  
Vol 12 (10) ◽  
pp. 1011-1017 ◽  
Author(s):  
Masayuki Yamasaki ◽  
Timothy J Sendall ◽  
Mary C Pearce ◽  
James C Whisstock ◽  
James A Huntington
Keyword(s):  
Molecular Basis ◽  
Antitrypsin Deficiency

Serpin polymerization and its role in disease-The molecular basis of α1-antitrypsin deficiency

IUBMB Life ◽  
2009 ◽  
Vol 61 (1) ◽  
pp. spcone-spcone
Author(s):  
Anja S. Knaupp ◽  
Stephen P. Bottomley
Keyword(s):  
Molecular Basis ◽  
Antitrypsin Deficiency

α1-Antitrypsin Wbethesda: Molecular basis of an unusual α1-antitrypsin deficiency variant

1990 ◽  
Vol 170 (3) ◽  
pp. 1013-1020 ◽  
Author(s):  
M.D. Holmes ◽  
M.L. Brantly ◽  
G.A. Fells ◽  
R.G. Crystal
Keyword(s):  
Molecular Basis ◽  
Antitrypsin Deficiency

Molecular basis of alpha-1-antitrypsin deficiency

1988 ◽  
Vol 84 ◽  
pp. 13-31 ◽  
Author(s):  
Mark Brantly ◽  
Toshihiro Nukiwa ◽  
Ronald G. Crystal
Keyword(s):  
Molecular Basis ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Expression of RHD and RHCE gene products using retroviral transduction of K562 cells establishes the molecular basis of Rh blood group antigens

Blood ◽  
1996 ◽  
Vol 87 (7) ◽  
pp. 2968-2973 ◽  
Author(s):  
JS Smythe ◽  
ND Avent ◽  
PA Judson ◽  
SF Parsons ◽  
PG Martin ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Gene Transfer ◽  
Molecular Basis ◽  
Exon Skipping ◽  
K562 Cells ◽  
Blood Group Antigens ◽  
Gene Products ◽  
Retroviral Transduction ◽  
Direct Demonstration ◽  
Rh Blood Group

Retroviral-mediated gene transfer using cDNA transcripts of the RHD and RHCE genes resulted in the isolation of K562 clones expressing D and G or c and E antigens, respectively. These results represent the first direct demonstration that the RHD gene encodes the D and G antigens and the RHCE gene encodes the c and E antigens. Both c and E antigens were expressed after transduction of K562 cells with a single cDNA, indicating that the c antigen does not arise by alternative splicing (exon skipping) of the product of the RHCE gene, as has been suggested.

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