Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes

2002 ◽  
Vol 111 (1) ◽  
pp. 88-95 ◽  
Author(s):  
Francesco Salvatore ◽  
Olga Scudiero ◽  
Giuseppe Castaldo
Keyword(s):  
Cystic Fibrosis ◽  
Modifier Genes ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals 10 CFTR p.Leu206Trp mutation: genotype-phenotype correlation in 12 Spanish cystic fibrosis (CF) patients

2012 ◽  
Vol 11 ◽  
pp. S57
Author(s):  
S. Gartner ◽  
T. Casals ◽  
C. Martin ◽  
O. Asencio ◽  
A. Moreno ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Role of genotype–phenotype correlation in prognostication of a child with a novel potassium channelopathy

2022 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Lokesh Saini ◽  
Bhanudeep Singanamalla ◽  
Ramesh Natarajan ◽  
Priyanka Madaan
Keyword(s):  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals ePS01.3 Genotype–phenotype correlation in Russian cystic fibrosis patients with S466X–R1070Q complex allele

2015 ◽  
Vol 14 ◽  
pp. S42
Author(s):  
N. Petrova ◽  
N. Kashirskaya ◽  
R. Zinchenko ◽  
E. Timkovskaya ◽  
A. Voronkova ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation

1997 ◽  
Vol 101 (2) ◽  
pp. 208-211 ◽  
Author(s):  
M. De Braekeleer ◽  
Christian Allard ◽  
Jean-Pierre Leblanc ◽  
Fernand Simard ◽  
Gervais Aubin
Keyword(s):  
Cystic Fibrosis ◽  
Compound Heterozygous ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation

2005 ◽  
Vol 132A (4) ◽  
pp. 434-440 ◽  
Author(s):  
Angela Polizzi ◽  
Ruggiero Francavilla ◽  
Giuseppe Castaldo ◽  
Teresa Santostasi ◽  
Rossella Tomaiuolo ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Phenotypic Expression ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Cystic Fibrosis Lung Immunity: The Role of the Macrophage

2016 ◽  
Vol 8 (6) ◽  
pp. 550-563 ◽  
Author(s):  
Emanuela M. Bruscia ◽  
Tracey L. Bonfield
Keyword(s):  
Cystic Fibrosis ◽  
Modifier Genes ◽  
Cystic Fibrosis Lung ◽  
Environmental Cues ◽  
Major Morbidity ◽  
Adaptive Immune ◽  
Lung Infections ◽  
Lung Immunity

Cystic fibrosis (CF) pathophysiology is hallmarked by excessive inflammation and the inability to efficiently resolve lung infections, contributing to major morbidity and eventually the mortality of patients with this disease. Macrophages (MΦs) are major players in lung homeostasis through their diverse contributions to both the innate and adaptive immune networks. The setting of MΦ function and activity in CF is multifaceted, encompassing the response to the unique environmental cues in the CF lung as well as the intrinsic changes resulting from CFTR dysfunction. The complexity is further enhanced with the identification of modifier genes, which modulate the CFTR contribution to disease, resulting in epigenetic and transcriptional shifts in MΦ phenotype. This review focuses on the contribution of MΦ to lung homeostasis, providing an overview of the diverse literature and various perspectives on the role of these immune guardians in CF.

scholarly journals Characterisation of mutations and genotype–phenotype correlation in cystic fibrosis: Experience from India

2008 ◽  
Vol 7 (2) ◽  
pp. 110-115 ◽  
Author(s):  
Shivaram S. Shastri ◽  
Madhulika Kabra ◽  
Sushil Kumar Kabra ◽  
Ravindra M. Pandey ◽  
P.S.N. Menon
Keyword(s):  
Cystic Fibrosis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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