Cftr - Genetic Mutations

Relevant Publications

Selective 1,4-syn-Addition to Cyclic 1,3-Dienes via Hybrid Palladium Catalysis.

Issue Release: 2024

Potentiation of BKCa channels by cystic fibrosis transmembrane conductance regulator (CFTR) correctors VX-445 and VX-121.

Issue Release: 2024

Clinical outcomes of two infants with cystic fibrosis, including presence of the vas deferens, born to a woman with cystic fibrosis taking CFTR modulators during both pregnancies.

Issue Release: 2024

Targeting ubiquitination machinery in cystic fibrosis: Where do we stand?

Issue Release: 2024

Investigation of F508del CFTR unfolding and a search for stabilizing small molecules.

Issue Release: 2024

Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues.

Issue Release: 2024

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.

Issue Release: 2024

Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.

Issue Release: 2024

Identification of Differentially Expressed mRNAs and lncRNAs Contributes to Elucidation of Underlying Pathogenesis and Therapeutic Strategy of Recurrent Implantation Failure.

Issue Release: 2024

pH Homeodynamics and Male Fertility: A Coordinated Regulation of Acid-Based Balance during Sperm Journey to Fertilization.

Issue Release: 2024

Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.

Issue Release: 2024

Analysis of CFTR mRNA and Protein in Peripheral Blood Mononuclear Cells via Quantitative Real-Time PCR and Western Blot.

Issue Release: 2024

Cystic fibrosis.

Issue Release: 2024

Accurate and Automated Genotyping of the Poly-T/TG Tract with -TIPS.

Issue Release: 2024

TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR.

Issue Release: 2024

Nutritional status in the era of highly effective CFTR modulators.

Issue Release: 2024

Pathophysiology of Cystic Fibrosis Liver Disease.

Issue Release: 2024

Next generation triplex-forming PNAs for site-specific genome editing of the F508del CFTR mutation.

Issue Release: 2024

Stellate cells are in utero markers of pancreatic disease in cystic fibrosis.

Issue Release: 2024

Allosteric inhibition of CFTR gating by CFTRinh-172 binding in the pore.

Issue Release: 2024

How Do Environmental Mutations Affect Health?

What is the Role of Genetic Counseling in Sickle Cell Disease?

How Can We Protect Ourselves from Chemical Mutagens?

What are the Latest Diagnostic Tools?

How is Cystic Fibrosis Inherited?

What Are the Consequences of Chemical-Induced Mutations?

What Types of Cancers Are Linked to Asbestos Exposure?

What is the Future of Genetic Research?

What is Occupational Therapy?

What is Comparative Genomic Hybridization (CGH)?

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