Literature DB >> 27098878

A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

Marco Lucarelli1.   

Abstract

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Year:  2016        PMID： 27098878     DOI： 10.1038/jhg.2016.34

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  10 in total

1.  The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

Authors:  Anna Diana; Angela Maria Polizzi; Teresa Santostasi; Luigi Ratclif; Maria Giuseppina Pantaleo; Giuseppina Leonetti; Danila Rosa Iusco; Crescenzio Gallo; Massimo Conese; Antonio Manca
Journal:  J Hum Genet       Date:  2016-02-25       Impact factor: 3.172

2.  Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

Authors:  Laia Masvidal; Susana Igreja; Maria D Ramos; Antoni Alvarez; Javier de Gracia; Anabela Ramalho; Margarida D Amaral; Sara Larriba; Teresa Casals
Journal:  Eur J Hum Genet       Date:  2013-10-16       Impact factor: 4.246

3.  Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

Authors:  Raed Farhat; Ayman El-Seedy; Kamal El-Moussaoui; Marie-Claude Pasquet; Catherine Adolphe; Eric Bieth; Jeanne Languepin; Isabelle Sermet-Gaudelus; Alain Kitzis; Véronique Ladevèze
Journal:  Biochem Cell Biol       Date:  2014-09-17       Impact factor: 3.626

4.  Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

Authors:  Claire E Wainwright; J Stuart Elborn; Bonnie W Ramsey; Gautham Marigowda; Xiaohong Huang; Marco Cipolli; Carla Colombo; Jane C Davies; Kris De Boeck; Patrick A Flume; Michael W Konstan; Susanna A McColley; Karen McCoy; Edward F McKone; Anne Munck; Felix Ratjen; Steven M Rowe; David Waltz; Michael P Boyle
Journal:  N Engl J Med       Date:  2015-05-17       Impact factor: 91.245

5.  CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

Authors:  Ayman El-Seedy; Emmanuelle Girodon; Caroline Norez; Julie Pajaud; Marie-Claude Pasquet; Alix de Becdelièvre; Thierry Bienvenu; Marie des Georges; Faïza Cabet; Guy Lalau; Eric Bieth; Martine Blayau; Frédéric Becq; Alain Kitzis; Pascale Fanen; Véronique Ladeveze
Journal:  Hum Mutat       Date:  2012-07-02       Impact factor: 4.878

6.  Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation.

Authors:  Claudio Sorio; Chiara Angiari; Jan Johansson; Genny Verzè; Michele Ettorre; Mario Buffelli; Carlo Castellani; Baroukh Maurice Assael; Paola Melotti
Journal:  J Cyst Fibros       Date:  2013-01-27       Impact factor: 5.482

7.  A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.

Authors:  Marco Lucarelli; Lorena Narzi; Silvia Pierandrei; Sabina Maria Bruno; Antonella Stamato; Miriam d'Avanzo; Roberto Strom; Serena Quattrucci
Journal:  Genet Med       Date:  2010-09       Impact factor: 8.822

8.  Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.

Authors:  Angela Polizzi; Riccardina Tesse; Teresa Santostasi; Anna Diana; Antonio Manca; Vito Paolo Logrillo; Maria Domenica Cazzato; Maria Giuseppa Pantaleo; Lucio Armenio
Journal:  Genet Mol Biol       Date:  2011-07-01       Impact factor: 1.771

9.  N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing.

Authors:  Raëd Farhat; Géraldine Puissesseau; Ayman El-Seedy; Marie-Claude Pasquet; Catherine Adolphe; Sandra Corbani; André Megarbané; Alain Kitzis; Véronique Ladeveze
Journal:  Biomed Res Int       Date:  2015-05-17       Impact factor: 3.411

10.  A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Authors:  Marco Lucarelli; Sabina Maria Bruno; Silvia Pierandrei; Giampiero Ferraguti; Antonella Stamato; Fabiana Narzi; Annalisa Amato; Giuseppe Cimino; Serenella Bertasi; Serena Quattrucci; Roberto Strom
Journal:  Mol Med       Date:  2015-04-21       Impact factor: 6.354
  10 in total
  1 in total

1.  High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.

Authors:  Nika V Petrova; Nataliya Y Kashirskaya; Tatyana A Vasilyeva; Natalia V Balinova; Andrey V Marakhonov; Elena I Kondratyeva; Elena K Zhekaite; Anna Y Voronkova; Sergey I Kutsev; Rena A Zinchenko
Journal:  BMC Genomics       Date:  2022-04-01       Impact factor: 3.969
  1 in total

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