Results 1 to 10 of about 31,972 (221)

Investigating the Genetic Sequence of Exons and Exon-intron Junction Sequences of CFTR Gene by PCR Method in Families Suspected of Cystic Fibrosis in Khuzestan Province [PDF]

مجله دانشکده پزشکی اصفهان, 2023
Background: Cystic fibrosis is one of the most fatal multisystem disorders and the most common autosomal recessive disease in the white population, which occurs due to mutations in cystic fibrosis membrane regulatory proteins (CFTR).
Leili Delfi Fallah, Maryam Mehdi Sasan, Zahra Shahpouri Arani, Mahin Baratvand, Hashem Kazemi   +4 more
doaj   +1 more source

Functional interplay between CFTR and pendrin: physiological and pathophysiological relevance

Frontiers in Bioscience-Landmark, 2022
The transport of chloride and bicarbonate across epithelia controls the pH and volume of the intracellular and luminal fluids, as well as the systemic pH and vascular volume.
Grazia Tamma, Silvia Dossena
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Stimulation of salivary secretion in vivo by CFTR potentiators in Cftr+/+ and Cftr−/− mice [PDF]

Journal of Cystic Fibrosis, 2008
Physiologically, salivary secretion is controlled by cholinergic and adrenergic pathways but the role of ionic channels in this process is not yet clearly understood. In cystic fibrosis (CF), most exocrine glands failed to response to beta-adrenergic agonists.To determine the implication of CFTR in this process, we measured in vivo the salivary ...
Noel, S, Strale, PO, Dannhoffer, L, Wilke, Martina, de Jonge, Hugo, Rogier, C, Mettey, Y, Becq, F   +7 more
openaire   +3 more sources

CFTR mutations altering CFTR fragmentation [PDF]

Biochemical Journal, 2012
Most CF (cystic fibrosis) results from deletion of a phenylalanine (F508) in the CFTR {CF transmembrane-conductance regulator; ABCC7 [ABC (ATP-binding cassette) sub-family C member 7]} which causes ER (endoplasmic reticulum) degradation of the mutant. Using stably CFTR-expressing BHK (baby-hamster kidney) cell lines we demonstrated that wild-type CTFR ...
TOSONI, KENDRA, Michelle Stobbart, D.i.a.n.e. .M. Cassidy, VENERANDO, ANDREA, PAGANO, MARIO ANGELO PRIMO, Simão Luz, M.a.r.g.a.r.i.d.a. .D. Amaral, Karl Kunzelmann, PINNA, LORENZO, C.a.r.l.o.s. .M. Farinha, Anil Mehta   +10 more
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The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review

International Journal of Pediatrics & Adolescent Medicine, 2022
Introduction: Meconium ileus (MI) is one of the most common causes of intestinal obstruction in newborns. It is the earliest clinical manifestation of cystic fibrosis (CF). MI is suspected if a baby fails to pass meconium shortly after birth and develops
Hanaa Banjar, Raef Qeretli, Ali Ramadan, Abdullah Al-Ibraheem, Fahad Bnatig   +4 more
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The first report on the association of celiac disease and cystic fibrosis in a tertiary care center in Saudi Arabia

International Journal of Pediatrics & Adolescent Medicine, 2022
Introduction: Celiac disease (CD) has been described before in Saudi Arabia (SA) to be at the range of 1% –2% in the general population, but the association of celiac disease and cystic fibrosis (CF) has never been described before in the Middle East ...
Hanaa Banjar, Ahmed Bawazir, Firas Ghomraoui, Khalid Alotaibi, Abduallah Alotaibi, Sarah Alotaibi, Reham Sayyari, Khalid Alsaleem   +7 more
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Pharmacological Responses of the G542X-CFTR to CFTR Modulators

Frontiers in Molecular Biosciences, 2022
Cystic fibrosis (CF) is a lethal hereditary disease caused by loss-of-function mutations of the chloride channel cystic fibrosis transmembrane conductance regulator (CFTR). With the development of small-molecule CFTR modulators, including correctors that facilitate protein folding and expression and potentiators that promote channel activity, about 90%
Xinxiu Fang, Jiunn-Tyng Yeh, Tzyh-Chang Hwang, Tzyh-Chang Hwang   +3 more
openaire   +3 more sources

Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia

International Journal of Pediatrics & Adolescent Medicine, 2022
Background: Internationally, Cystic fibrosis-associated liver disease (CFLD) is considered the third leading cause of death, following lung disease and transplantation complications.
Hanaa Banjar, Najlaa AbdulAziz, Jumana Khader, Firas Ghomraoui, AbdulAziz Alansari, Abdulaziz Al-Hoshan, Sara AlKaf, Wajeeh Aldakheel   +7 more
doaj   +1 more source

Cftr [PDF]

The Journal of General Physiology, 2001
Some studies of CFTR imply that channel activation can be explained by an increase in open probability (Po), whereas others suggest that activation involves an increase in the number of CFTR channels (N) in the plasma membrane. Using two-electrode voltage clamp, we tested for changes in N associated with activation of CFTR in Xenopus oocytes using a ...
Xuehong Liu, Stephen S. Smith, Fang Sun, David C. Dawson   +3 more
openaire   +3 more sources

Analysis of Ivacaftor drug approval for cystic fibrosis patients with gating mutations. [PDF]

The Young Researcher, 2021
Cystic fibrosis is an inherited monogenetic disorder that leads to chronic respiratory and lung infections. These infections result in decreased quality of life in patients.
Nemirajaiah, S.
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