cftr gene | CFTR - Johns Hopkins Cystic Fibrosis Center

Keyword	CPC	PCC	Volume	Score	Length of keyword
cftr gene	0.86	0.6	7762	89	9
cftr	1.54	0.4	1855	80	4
gene	1.79	1	3523	84	4

Keyword	CPC	PCC	Volume	Score
cftr gene	1.1	0.8	3329	27
cftr gene mutation	1.92	0.1	9298	52
cftr gene test	1.02	0.9	4583	74
cftr genereviews	0.18	0.5	3229	27
cftr gene sketch	1.23	0.1	9260	2
cftr gene location	0.96	0.4	9668	43
cftr gene function	1.72	0.6	6835	23
cftr gene wikipedia	1.93	0.3	8646	9
cftr gene therapy	0.63	0.1	3166	3
cftr gene sequence	1.37	0.4	790	37
cftr gene drawing	0.14	1	5123	1
cftr gene sketch exon	1.36	0.7	3806	44
cftr gene stands for	1.27	0.7	4304	34
cftr gene mutation test	0.01	0.6	1529	51
cftr gene cystic fibrosis	1	1	4382	60
what is the cftr gene	0.16	0.4	6461	100
what does the cftr gene do	1.67	0.8	5268	17
where is the cftr gene located	1.51	0.5	8624	45
human cftr gene sequence	0.83	1	778	92

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CFTR - Johns Hopkins Cystic Fibrosis Center
hopkinscf.org

https://hopkinscf.org/knowledge/cftr/

WEBThe cystic fibrosis transmembrane conductance regulator (CFTR) is defective in cystic fibrosis (CF). This protein is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate. The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7.

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Cystic fibrosis transmembrane conductance regulator - Wikipedia
wikipedia.org

https://en.m.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator

WEBCystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 …

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CFTR gene: MedlinePlus Genetics
medlineplus.gov

https://medlineplus.gov/genetics/gene/cftr/

WEBThe CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.

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CF Genetics: The Basics | Cystic Fibrosis Foundation
cff.org

https://www.cff.org/intro-cf/cf-genetics-basics

WEBCystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.

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Cystic Fibrosis - Causes | NHLBI, NIH
nih.gov

https://www.nhlbi.nih.gov/health/cystic-fibrosis/causes

WEBNov 21, 2023 · Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Inheriting two mutated genes causes cystic fibrosis. People who inherit one mutated CFTR gene are carriers, who are generally healthy, although they can pass the mutation to their children.

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Basics of the CFTR Protein | Cystic Fibrosis Foundation
cff.org

https://www.cff.org/research-clinical-trials/basics-cftr-protein

WEBSummary. The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to maintain the balance of salt and water on many surfaces in the body, such as the surface of the lung. The CFTR protein is a particular type of protein called an ion channel. In the lung, the CFTR ion channel moves chloride ions from inside the cell to ...

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The Clinical Biology of Cystic Fibrosis Transmembrane Regulator Protein
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414788/

WEBOct 22, 2018 · Biallelic mutations of the cystic fibrosis (CF) transmembrane regulator ( CFTR) gene resulting in reduced or absent protein function cause CF. 1 The observed clinical syndrome of CF centers on airway disease characterized by inflammation, chronic infections, inspissation of tenacious secretions, bronchiectasis, and …

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CFTR function, pathology and pharmacology at single-molecule …
nature.com

https://www.nature.com/articles/s41586-023-05854-7

WEBMar 22, 2023 · CFTR belongs to the ATP-binding cassette transporter family of proteins, but uniquely functions as an ion channel 4. It consists of two transmembrane domains that form an ion permeation pathway,...

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Cystic Fibrosis - GeneReviews® - NCBI Bookshelf
nih.gov

https://www.ncbi.nlm.nih.gov/books/NBK1250/

WEBMar 26, 2001 · Evidence of an abnormality in cystic fibrosis transmembrane conductance regulator (CFTR) function: sweat chloride ≥60 mmol/L on sweat chloride testing, biallelic CFTR CF-causing pathogenic variants, or nasal transmembrane epithelial potential difference measurement consistent with CF. Management.

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Mutations of the cystic fibrosis transmembrane conductance regulator
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7533508/

WEBAug 24, 2020 · Congenital bilateral absence of the vas deferens (CBAVD) is predominantly caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CBAVD accounts for 2–6% of male infertility cases and up to 25% of cases of obstructive azoospermia.

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