Ask about this productRelated genes to: CFTR antibody
- Gene:
- CFTR NIH gene
- Name:
- cystic fibrosis transmembrane conductance regulator
- Previous symbol:
- CF, ABCC7
- Synonyms:
- MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP
- Chromosome:
- 7q31.2
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: CFTR antibody
Related articles to: CFTR antibody
- Cystic fibrosis (CF) newborn screening combines immunoreactive trypsin testing and targeted CFTR mutation panels. However, in Europe, most standard panels are designed primarily for common variants in Caucasian populations. We report a newborn, born in Spain from immigrant parents, with positive CF screening but initially normal genetic testing and borderline sweat chloride values. Full CFTR sequencing ultimately revealed a homozygous pathogenic variant (p.H609R), previously described in individuals of Ecuadorian-Andean ancestry. This case highlights the importance of clinical vigilance and comprehensive genetic analysis in increasingly diverse populations. - Source: PubMed
Publication date: 2026/05/04
Ortúzar Menéndez MarinaMendiguren Lucie MarielGarde Garde María CarmenPérez Ollo SaraCampion Mezquiriz AliciaMoreno-Galarraga Laura - Advances in genomic technologies, particularly massively parallel sequencing of cell-free fetal DNA, have transformed prenatal screening and created opportunities for fetal therapies. First-tier screening for trisomy 21 (T21) now enables early identification of affected fetuses, raising the possibility of prenatal intervention. Down syndrome (DS) is increasingly recognized not only as a neurodevelopmental condition but also as an interferon-driven disorder of immune dysregulation. Preclinical studies using human cellular models and trisomic mice demonstrated abnormalities in oxidative stress and inflammatory pathways. Connectivity Map-guided identification of apigenin, a naturally occurring flavonoid, showed partial normalization of gene expression, reduced neuroinflammation, and improved hippocampal-dependent learning in a mouse model, supporting the concept that atypical fetal brain development in T21 may be modifiable. Parallel human studies have confirmed chronic hypercytokinemia and autoimmunity in DS, and postnatal treatment with JAK inhibitors has shown early clinical benefit. A similar therapeutic paradigm is emerging for cystic fibrosis, where noninvasive prenatal testing detects CFTR variants and highly effective CFTR modulators are increasingly used during pregnancy. Early reports suggest that in utero exposure may ameliorate fetal complications such as meconium ileus. Together, these advances support a framework in which selected genetic disorders may be treatable beginning in fetal life. IMPACT: Advances in engineering and computational science, coupled with new biological and genomic knowledge, have led to novel prenatal opportunities to improve child health and treat disease. - Source: PubMed
Publication date: 2026/05/06
Bianchi Diana W - Cystic fibrosis (CF) is a common genetic disease caused by a defective CF-transmembrane conductance regulator (CFTR). People with CF (pwCF) are prone to develop infections by opportunistic pathogens, including Burkholderia cenocepacia, leading to chronic inflammation. Neutrophils release granular proteins and oxidative products that contribute to tissue damage. CFTR modulators are a new treatment for pwCF aiming to correct the subcellular location and function of the CFTR ion channel. The triple modulator combination of Elexacaftor, Tezacaftor, and Ivacaftor (ETI) or Trikafta® has significantly improved clinical symptoms and overall provided a better quality of life for pwCF. The mechanism by which CFTR modulators help to restore the antimicrobial functions of neutrophils is unknown. The present study demonstrated that neutrophils functionally express CFTR and revealed how ETI modifies subcellular CFTR trafficking in CF neutrophils. In addition, ETI treatment reduced intracellular chloride levels in human neutrophils, indicating activation of CFTR-dependent chloride efflux. Finally, ETI treatment also re-established the intracellular antimicrobial killing of CF neutrophils by potentiating NADPH oxidase activity and improved trapping microbes by enhancing the production of Neutrophil Extracellular Traps (NETs). Together, our findings suggest that CFTR has an essential role in controlling neutrophil functions and CFTR modulators help restore the antimicrobial functions of neutrophils from pwCF. - Source: PubMed
Publication date: 2026/04/06
Robledo-Avila Frank HRascon RaulMontanez-Barragan AlejandraLoyo-Celis VeronicaSingh HarpreetMccoy Karen SKopp Benjamin TPartida-Sánchez Santiago - : Cystic fibrosis (CF) is likely underdiagnosed in Caribbean populations due to non-representative cystic fibrosis transmembrane conductance regulator (CFTR) variant screening panels, limited newborn screening programs, and structural healthcare barriers. Data from 2022 indicate substantial populations with European ancestry in Puerto Rico (1.4 M, 42.7%) and the Dominican Republic (1.4 M, 57.9%), yet the true burden of CF in the broader Caribbean remains largely undocumented. - Source: PubMed
Rivera-Figueroa Krystal LMartin Cole LLe Christina ARojas Wilfredo De JesúsOñate Leandra CorderoAller Stephen G - To characterize anterior segment structural alterations in adults with cystic fibrosis (CF), with emphasis on conjunctival and corneal epithelial parameters, and to compare them with healthy controls. - Source: PubMed
Publication date: 2026/05/04
Liberski SławomirSkulimowski BartoszKałużna AleksandraPetrovski GoranCofta SzczepanKocięcki Jarosław