Nonclassical course of «classical» mutation of the cystic fibrosis transmembrane conductance regulator gene (clinical case)

Regulator Gene ◽

Cystic Fibrosis Transmembrane ◽

Classical Mutation

Faculty Opinions recommendation of MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.13361055.14731200 ◽

2011 ◽

Author(s):

Pradeep Dudeja ◽

Arivarasu Natarajan Anbazhagan

Keyword(s):

Cystic Fibrosis ◽

Regulator Gene ◽

Regulation Of Expression ◽

Microrna Regulation ◽

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family

Clinical Genetics ◽

10.1111/j.1399-0004.1995.tb03944.x ◽

2008 ◽

Vol 47 (3) ◽

pp. 125-132 ◽

Cited By ~ 24

Author(s):

Julian Zielenski ◽

Danuta Markiewicz ◽

Shuan-Pei Lin ◽

Fu-Yuan Huang ◽

Teresa L. Yang-Feng ◽

...

Keyword(s):

Cystic Fibrosis ◽

Point Mutation ◽

Chinese Family ◽

Regulator Gene ◽

Mutations of Cystic Fibrosis Transmembrane Conductance Regulator Gene Cause a Monocyte-Selective Adhesion Deficiency

American Journal of Respiratory and Critical Care Medicine ◽

10.1164/rccm.201510-1922oc ◽

2016 ◽

Vol 193 (10) ◽

pp. 1123-1133 ◽

Cited By ~ 34

Author(s):

Claudio Sorio ◽

Alessio Montresor ◽

Matteo Bolomini-Vittori ◽

Sara Caldrer ◽

Barbara Rossi ◽

...

Keyword(s):

Cystic Fibrosis ◽

Regulator Gene ◽

Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center

Jornal de Pediatria ◽

10.2223/jped.2225 ◽

2012 ◽

Vol 88 (6) ◽

pp. 531-4 ◽

Cited By ~ 3

Author(s):

Andréia Marisa Bieger ◽

Fernando Augusto de Lima Marson ◽

Carmen Sílvia Bertuzzo

Keyword(s):

Cystic Fibrosis ◽

Regulator Gene ◽

Referral Center ◽

Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review)

Molecular Medicine Reports ◽

10.3892/mmr.2020.11456 ◽

2020 ◽

Author(s):

Xiangrong Cui ◽

Xueqing Wu ◽

Qiang Li ◽

Xuan Jing

Keyword(s):

Cystic Fibrosis ◽

Genetic Counseling ◽

Vas Deferens ◽

Regulator Gene ◽

Bilateral Absence ◽

Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens

Human Reproduction ◽

10.1093/humrep/deh073 ◽

2004 ◽

Vol 19 (2) ◽

pp. 250-253 ◽

Cited By ~ 28

Author(s):

C.C. Wu

Keyword(s):

Cystic Fibrosis ◽

Vas Deferens ◽

Clinical Correlation ◽

Regulator Gene ◽

Gene Screening ◽

Bilateral Absence ◽

The therapeutic potential of the human cystic fibrosis transmembrane conductance regulator gene

Expert Opinion on Investigational Drugs ◽

10.1517/13543784.6.9.1187 ◽

1997 ◽

Vol 6 (9) ◽

pp. 1187-1192

Author(s):

Andrea Pavirani

Keyword(s):

Cystic Fibrosis ◽

Therapeutic Potential ◽

Regulator Gene ◽

Transcriptional Repression of the Cystic Fibrosis Transmembrane Conductance Regulator Gene, Mediated by CCAAT Displacement Protein/cutHomolog, Is Associated with Histone Deacetylation

Journal of Biological Chemistry ◽

10.1074/jbc.274.12.7803 ◽

1999 ◽

Vol 274 (12) ◽

pp. 7803-7815 ◽

Cited By ~ 91

Author(s):

SiDe Li ◽

Libia Moy ◽

Nanci Pittman ◽

Gongliang Shue ◽

Barbara Aufiero ◽

...

Keyword(s):

Cystic Fibrosis ◽

Transcriptional Repression ◽

Histone Deacetylation ◽

Regulator Gene ◽

Ccaat Displacement Protein ◽

Basal expression of the cystic fibrosis transmembrane conductance regulator gene is dependent on protein kinase A activity.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.92.16.7560 ◽

1995 ◽

Vol 92 (16) ◽

pp. 7560-7564 ◽

Cited By ~ 47

Author(s):

R. A. McDonald ◽

R. P. Matthews ◽

R. L. Idzerda ◽

G. S. McKnight

Keyword(s):

Cystic Fibrosis ◽

Protein Kinase ◽

Protein Kinase A ◽

Regulator Gene ◽

Basal Expression ◽

Cystic Fibrosis Transmembrane ◽

Kinase A

Genetic Variation In The Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) Is Associated With The Need For Mechanical Ventilation In Pediatric Patients With Community-Acquired Pneumonia

10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a3990 ◽

2011 ◽

Author(s):

Julie M. Baughn ◽

Pippa M. Simpson ◽

Shun-Hwa Li ◽

Michael W. Quasney ◽

Hara Levy ◽

...

Keyword(s):

Cystic Fibrosis ◽

Mechanical Ventilation ◽

Genetic Variation ◽

Pediatric Patients ◽

Community Acquired Pneumonia ◽

Regulator Gene ◽

Cystic Fibrosis Transmembrane ◽

Gène Cftr