Defective Gene Detective

Science ◽  
2012 ◽  
Vol 335 (6070) ◽  
pp. 773-773
Keyword(s):  
Defective Gene

The Effects of Age, Gene Source and Familial Severity on Factor VIII in Normals and Haemophilia Carriers: Analysis by Multiple Regression

1983 ◽  
Vol 50 (03) ◽  
pp. 722-725 ◽  
Author(s):  
Bruce M Duncan ◽  
Lynn J Tunbridge ◽  
John V Lloyd
Keyword(s):  
Factor Viii ◽  
Multiple Regression ◽  
Analysis Of Covariance ◽  
Severe Haemophilia ◽  
Factor Viii Related Antigen ◽  
Defective Gene ◽  
Coagulant Activity

SummaryThere are conflicting views on the effects of age, gene source and familial severity on levels of factor VIII in carriers of haemophilia. Different workers have found that factor VIII increases with age, is higher in paternal carriers, and is higher in carriers from families with more severe haemophilia. Other workers have disagreed with these findings. In this study we explored some of the causes of this conflict. We measured factor VIII related antigen and factor VIII coagulant activity on 40 normal females and 48 carriers, and analysed the results by multiple regression and analysis of covariance. Our results indicated that both factor VIII coagulant activity and factor VIII related antigen increased with age, but were unaffected by the familial severity of haemophilia or whether the defective gene came from the mother or the father. We found that the conflicting reports of previous authors were due to high inter-correlations of the studied variables.

Defective gene expression of MnSOD in tumor cells

1993 ◽  
Vol 15 (5) ◽  
pp. 503
Author(s):  
T. Galeotti ◽  
S. Borrello ◽  
M.E. De Leo ◽  
G. Piccirillo ◽  
F. Ria ◽  
...  
Keyword(s):  
Gene Expression ◽  
Tumor Cells ◽  
Defective Gene

X-Linked Agammaglobulinemia: New Approaches to Old Questions based on the Identification of the Defective Gene

1994 ◽  
Vol 138 (1) ◽  
pp. 5-21 ◽  
Author(s):  
Mary Ellen Conley ◽  
Ornella Parolini ◽  
Jurg Rohrer ◽  
Dario Campana
Keyword(s):  
New Approaches ◽  
Defective Gene

Regulary organized lymphoid tissue and CD40 ligand expression in a male fetus carrying the defective gene for X‐linked lymphoproliferative disease (XLP)

1997 ◽  
Vol 30 (5) ◽  
pp. 481-482 ◽  
Author(s):  
A. Greiner ◽  
V. Schuster ◽  
E. Böhm ◽  
H.W. Kreth ◽  
H.K. Müller Hermelink ◽  
...  
Keyword(s):  
Lymphoid Tissue ◽  
Cd40 Ligand ◽  
Lymphoproliferative Disease ◽  
Male Fetus ◽  
Defective Gene ◽  
Ligand Expression

scholarly journals SPINK5, the Defective Gene in Netherton Syndrome, Encodes Multiple LEKTI Isoforms Derived from Alternative Pre-mRNA Processing

2006 ◽  
Vol 126 (2) ◽  
pp. 315-324 ◽  
Author(s):  
Alessandro Tartaglia-Polcini ◽  
Chrystelle Bonnart ◽  
Alessia Micheloni ◽  
Francesca Cianfarani ◽  
Alessandra Andrè ◽  
...  
Keyword(s):  
Mrna Processing ◽  
Netherton Syndrome ◽  
Defective Gene

Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome

Genomics ◽  
2005 ◽  
Vol 85 (4) ◽  
pp. 483-492 ◽  
Author(s):  
Marie Florence Galliano ◽  
Rosa Maria Roccasecca ◽  
Pascal Descargues ◽  
Alessia Micheloni ◽  
Elaine Levy ◽  
...  
Keyword(s):  
Expression Analysis ◽  
Netherton Syndrome ◽  
Defective Gene

scholarly journals Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Alessia Indrieri ◽  
Claudia Grimaldi ◽  
Silvia Zucchelli ◽  
Roberta Tammaro ◽  
Stefano Gustincich ◽  
...  
Keyword(s):  
Gene Expression ◽  
Defective Gene ◽  
Non Coding Rnas
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