Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

Genetics in Medicine

Volumn 16, Issue 8, 2014, Pages 625-632

  Molinski, Steven V ^a,b   Gonska, Tanja ^a,b   Huan, Ling Jun ^a   Baskin, Berivan ^c   Janahi, Ibrahim A ^d   Ray, Peter N ^a,b   Bear, Christine E ^a,b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UPPSALA UNIVERSITY   (Sweden)

^d HAMAD MEDICAL CORPORATION   (Qatar)

Author keywords

CF diagnostic test; CFTR processing and channel function; deletion in NBD2; missense versus aberrant splicing; small molecule corrector compounds

Indexed keywords

AMINO ACID; CHLORIDE; COMPLEMENTARY DNA; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ELASTASE; GENOMIC DNA; LUMACAFTOR; RNA; 1,3 BENZODIOXOLE DERIVATIVE; AMINOPYRIDINE DERIVATIVE; CFTR PROTEIN, HUMAN; ISOLEUCINE; VALINE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CELL CLONE; CHEST INFECTION; CLINICAL FEATURE; COUGHING; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE; DISEASE COURSE; DISEASE EXACERBATION; EPITHELIUM CELL; EXON; FAILURE TO THRIVE; FAMILY ASSESSMENT; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HAEMOPHILUS INFLUENZAE; HEMOPTYSIS; HUMAN; HUMAN CELL; IN VIVO STUDY; INFLUENZA; LUNG INFECTION; MALE; MEDICAL HISTORY; MISSENSE MUTATION; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MYCOBACTERIUM ABSCESSUS; PANCREAS FUNCTION; PNEUMOCOCCAL INFECTION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN PROCESSING; PROTEIN SYNTHESIS; SEQUENCE ANALYSIS; SPUTUM CULTURE; STAPHYLOCOCCUS AUREUS; STAPHYLOCOCCUS INFECTION; STREPTOCOCCUS PNEUMONIAE; SWEAT GLAND; SWEATING; ANIMAL; CELL LINE; GENETICS; HAMSTER; HEK293 CELL LINE; HOMOZYGOTE; METABOLISM; QATAR; RNA SPLICING; ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; CONTROLLED STUDY; EMBRYO; KIDNEY CELL; NONHUMAN; NUCLEOTIDE SEQUENCE;

ADOLESCENT; ADULT; AMINOPYRIDINES; ANIMALS; BENZODIOXOLES; CELL LINE; CRICETINAE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; HEK293 CELLS; HOMOZYGOTE; HUMANS; ISOLEUCINE; MALE; MUTATION, MISSENSE; QATAR; RNA SPLICING; VALINE;

EID: 84905568431     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.4     Document Type: Article

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