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CFTR in Medical News

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

...l new insights about the mutational alleles of the cftr gene and further refinements in how best to detect... not affiliated with the studies. "Since the cftr gene was discovered two decades ago this year, sci...s into the more than 1,500 mutations affecting the cftr gene are enhancing the medical understanding of cy...

Scientists find gene that modifies severity of cystic fibrosis lung disease

... been known for 20 years that cystic fibrosis is caused by mutations in the cftr gene, the molecular mechanisms that link these mutations to the generation ...ren and adults in the United States and 70,000 worldwide. The defect in the cftr gene causes the body to produce unusually thick, sticky mucus that clogs th...

Study Pinpoints New Gene for Cystic Fibrosis

.... 25 in Nature . Researchers have long known that mutations in the gene cftr were associated with cystic fibrosis, but were unable to account for the sp...romising was IFRD1, which coincidentally is located relatively close to the cftr gene. IFRD1 is a transcription factor, a protein that regulates the expr...

JCI online early table of contents: Feb. 16, 2009

... in individuals with cystic fibrosis, by analyzing the functional status of cftr in the small intestine of mice lacking these proteins. In the study, cha...tically targeting these proteins might provide an effective way to modulate cftr function. TITLE: Differential roles of NHERF1, NHERF2, and PDZK1 in regu...

Hope for preventative treatment for cystic fibrosis lung disease

...t knowing. The cause of all symptoms of cystic fibrosis are defects at a certain locations in the genetic makeup a mutation in what is called the cftr ("Cystic Fibrosis Transmembrane Conductance Regulator" gene) leads to loss of salt and water and thus dehydration of the surfaces of the mucous membra...

JCI online early table of contents: Dec. 1, 2008

...cells at the basolateral surface and activation of cftr is required for HCO3 secretion from epithelial cel...teins by distinct mechanisms and that it regulates cftr by reducing the amount of time the channel is clos...ecretion by stimulating the transporters pNBC1 and cftr in the murine pancreatic duct AUTHOR CONTACT: ...

Study Points to New Treatments for Polycystic Kidney Disease

... Molecules called cftr inhibitors show promise in slowing growth of masse...DAY, April 11 (HealthDay News) -- Compounds called cftr inhibitors show promise in slowing the progression...ed to chloride secretion, which is affected by the cftr (cystic fibrosis transmembrane conductance regulat...

Cystic Fibrosis Foundation announces positive early results for phase 2 clinical trial of VX-770

..., nasal potential difference measurements and sweat chloride levels. The findings suggest that VX-770 improves function of what is known as the faulty cftr protein. This early data is promising and could have important implications for studies of other drugs in development. This is the first time that ...

JCI table of contents: Feb. 21, 2008

...ction and frequent lung infections, is associated with a high mortality rate primarily due to lung failure. Although it is known that mutations in the cftr gene cause the disease, variations in other genes between individuals with CF modify the severity of the disease. For example, the gene responsible fo...

Peptide discovered in scorpion venom may hold key to secretory diseases

...otein. In individuals with cystic fibrosis, the cftr protein is mutated, often with one or more amino a...ed, and consequently misfolded. In the most common cftr mutation leading to cystic fibrosis, the location ... proteins and discard them from the cell. Loss of cftr proteins stops water from flowing into or out of t...
CFTR in Medical Technology

PTC Announces Data Showing That PTC124 Causes Statistically Significant Improvements in Chloride Channel Function in Cystic Fibrosis Patients

...s." Patients with CF lack adequate levels of the cftr protein, a chloride channel which is required for ...tients with nonsense-mutation CF make virtually no cftr protein and thus often have a more severe form of ...d chloride conductance and in apical expression of cftr protein in nasal epithelium. The study enrolled 30...

PTC Therapeutics Announces Data from Additional Clinical Studies of PTC124 in Cystic Fibrosis Confirming Activity

...s with nonsense-mutation-mediated CF confirmed the cftr activity observed in previous short-term studies i... ) Patients with CF lack adequate levels of the cftr protein, a chloride channel that maintains proper ...ally have a severe form of CF because virtually no cftr protein is produced. Previous studies of PTC124 ad...

PTC Therapeutics Announces Data Supporting Cough Frequency as a New Outcome Measure in Evaluating Treatments for Cystic Fibrosis

...ense mutations are the cause of CF in approximately 10% of patients in the United States. There is currently no available therapy to correct defective cftr production and function. Instead, available treatments for CF are designed to alleviate the symptoms of the disease. These treatments include chest ph...

Cystic Fibrosis Foundation Announces Positive Early Results for Phase 2 Clinical Trial of VX-770 - an Oral Compound to Treat CF

..., nasal potential difference measurements and sweat chloride levels. The findings suggest that VX-770 improves function of what is known as the faulty cftr protein. This early data is promising and could have important implications for studies of other drugs in development. This is the first time that a...

PTC Therapeutics Announces Publication of Preclinical Data in PNAS

...chloride channel that maintains proper hydration of epithelial cells in the lung, pancreas, and liver. The data in PNAS demonstrate that PTC124 allows cftr to be made in cells in which it was previously absent, to be delivered to the proper cellular location, and to induce chloride channel function. Colle...

Targeting Specific Mutations Reveals Promising New Approach to Treating Genetic Disorders; Preclinical Data Published in Nature

...hat PTC124 restores the presence of the missing protein in CF caused by nonsense mutations. Similar to the effect in DMD, PTC124 induces production of cftr (the missing protein in CF). The paper entitled, "PTC124 targets genetic disorders caused by nonsense mutations" is available in an advanced online ...

Phase 2a Diarrhea Predominant Irritable Bowel Syndrome Results from 2006 Presented at Digestive Disease Week in Washington, D.C.

... sustainably harvested from several countries in South America. Experimental studies have shown that crofelemer inhibits chloride secretion across the cftr transporter in various animal models of diarrhea, including cholera toxin treatment. Napo also plans to develop a clinical stage product, NP-500, for ...
CFTR in Medical Products

Cystic Fibrosis Mutation Panel with Reflex to CFTR Full Gene Analysis

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

NGEN CFTR ASRs*

Description: NGEN-brand ASRs* are specifically designed for PCR amplification and target sequence detection with two-color fluorescence detection systems. The NGEN product line includes reagents for the detection of mutations associated with cystic fibrosis, thrombosis, and hereditary hemochromatosis, as well a...
Company:Nanogen, Inc.

Tag-It™ Cystic Fibrosis Kit

Description:...rage for carrier screening in adults and as an aid to diagnosis in newborns. The Tag-It™ Cystic Fibrosis Kit simultaneously screens for the 23 cftr gene mutations and 4 variants (polymorphisms) recommended by the American College of Medical Genetics (ACMG) and American College of Obstetricians and...
Company:Tm Bioscience Corporation
CFTR in Biological News

Cystic fibrosis testing -- next steps

...omal recessive disease caused by mutations in the cftr gene; cystic fibrosis patients must inherit a mut...l for screening a panel of 23 common mutations in cftr ; however, many laboratories screen for an expande...eening results, either due to a large deletion in cftr or because of mutations that interfere with labor...

PTC124 shows activity in cystic fibrosis; Phase 2 proof-of-concept data published in Lancet

...h nonsense-mutation CF generally make virtually no cftr protein and thus often have a more severe form of ... RESULTS: PTC124 RESTORED FUNCTIONAL PRODUCTION OF cftr PROTEIN IN PATIENTS This Phase 2 Israeli stud...patients with CF due to a nonsense mutation in the cftr gene and establishes a path forward for evaluating...

Computer simulations point to key molecular basis of cystic fibrosis

...in. People with cystic fibrosis do not have enough cftr for their cells to work normally because their bod...s protein specifically occurs in a major domain of cftr called NBD1. Earlier experimental studies have sho...ld correctly. These interactions are modulators of cftr folding, and hence, they are potential modulators ...

Study uncovers clues to cystic fibrosis gene dysfunction and gastrointestinal disease

... without CF. Yet the underlying mechanism by which cftr gene dysfunction causes disease is poorly understo...ery of a new regulatory element in a region of the cftr gene that can control the genes expression in the ... lead to a more comprehensive understanding of how cftr gene dysfunction can cause such a wide range of di...

Galapagos and Cystic Fibrosis Foundation Therapeutics announce drug discovery collaboration

...lecules derived from natural sources that improve the function of a defective protein found in people who have cystic fibrosis. The protein is called cftr - cystic fibrosis transmembrane conductance regulator. To advance the search for a cure for cystic fibrosis, CFFT funds promising scientific research...

Technology reveals 'lock and key' proteins behind diseases

...agljar lab identified six proteins that interact with and presumably communicate with the ABC transporter Ycf1p, a yeast version of the human proteins cftr and MRP. These newly discovered protein interactors represent novel potential pharmaceutical targets. Through a series of biochemical and genetic test...

Penn study on lung-infecting bacterial enzyme suggests new approach to cystic fibrosis treatment

...ns in CF and AIDS patients. In healthy lungs, cftr allows the passage of chloride ions (and accompany...ory tract bacteria, breaks down lipids surrounding cftr and thereby suppresses CFTR’s chloride-passing fun...se in frog oocytes (egg cells) engineered to place cftr in their membrane. These oocytes are an experiment...

Clues to gene expression in cystic fibrosis will guide research

... stop mutations, which includeY122X, are found in around 10% of CF patients. Gentamicin reversed stop codons in the Y122X gene, and helped restore the cftr protein, improving patients?respiration. Gentamicin itself may not be an ideal drug option, as it may cause serious side effects for some patient...

Study reveals how cells destroy faulty proteins in cystic fibrosis

...R). People with cystic fibrosis do not have enough cftr for their cells to work normally because their bod... cases of CF are caused by the inability of faulty cftr to get in the correct shape, which leads cells to ...or the development of therapeutics designed to get cftr into shape and allow it function normally in the l...

Johns Hopkins lab scientists tame overactive CF protein

...ple with CF, defects in genes for a protein called cftr (cystic fibrosis transmembrane regulator) interrup...e able to confirm that to get rid of the defective cftr protein, cells deploy VCP/p97 protein, which latches onto the damaged cftr and sends it to the proteasome for destruction," Z...
CFTR in Biological Technology

SEQUENOM Reports Second Quarter 2009 Financial Results and Highlights

... its CLIA laboratory by the first quarter of 2010 - cystic fibrosis carrier screen (CFTR), RHD and fetal sex determination. The first of these tests - cftr - is expected to launch this quarter or early next quarter. The RHD and fetal sex determination tests are on target for launches thereafter. D...

Researchers develop new model for cystic fibrosis

...nvestigator. CF occurs when a person inherits two mutated copies of the cftr gene leading to loss of ion channel function that adversely affects many or...ted copies of the gene. The researchers established that piglets lacking cftr have the abnormal ion channel activity that is a hallmark of CF disease. Th...

PTC124 Shows Promising Activity in Cystic Fibrosis; Phase 2 Proof-of-Concept Data Published in the Lancet

...h nonsense-mutation CF generally make virtually no cftr protein and thus often have a more severe form of ... results: PTC124 Restored Functional Production of cftr Protein in Patients This Phase 2 Israeli study e... chloride transport responses and normalization of cftr activity across the variety of patient genotypes t...

Cystic Fibrosis - Axentis Pharma Takes Over Patents and Continues Development of Innovative Platform Technology

...ly Lukacs who guided the experimental set-up in his labs at the Sick Kids Hospital in Toronto explains: "In patients with cystic fibrosis, the protein cftr (cystic fibrosis conductance regulator) with mutated structure is marked with ubiquitin. These ubiquitin-marked proteins are degraded by multiple mech...

Genetic manipulation might model cystic fibrosis

...adeno-associated virus (rAAV) vectors to alter the cftr gene in pig fibroblasts such that was disrupted or...and male piglets carrying one or other the mutated cftr genes were generated. A similar approach rAAV targeting of the cftr gene in ferret fibroblasts, followed by the transf...

JCI online early table of contents: March 6, 2008

...adeno-associated virus (rAAV) vectors to alter the cftr gene in pig fibroblasts such that was disrupted or...and male piglets carrying one or other the mutated cftr genes were generated. A similar approach rAAV targeting of the cftr gene in ferret fibroblasts, followed by the transf...

PTC Therapeutics Announces Encouraging Additional Phase 2 Results of PTC124 in Cystic Fibrosis

...rnh/20010919/PTCLOGO ) Patients with CF lack the cftr protein, a chloride channel that maintains proper ...ine whether PTC124 can induce production of active cftr protein. Studies in the U.S. and Israel evaluated ...CF. We have seen encouraging evidence of sustained cftr chloride-channel function and improvements in symp...

BioMarin Licenses Technology From Leading Cystic Fibrosis Research Laboratory at the University of California, San Francisco

...rones Target Underlying Defect in Cystic Fibrosis; cftr Folding and Transport NO...ity for the folding and activation of the abnormal cftr protein. We look forward to accelerating the lead ...and approximately 40,000 patients outside the U.S. cftr is a transmembrane protein that functions primaril...

Third Wave boosts numbers in latest report

...eing from this other area." Third Wave reported that it will release its cftr ASRs this year in a new format that will extend its Invader chemistry's performance, simplicity and ease of use, help labs develop cftr tests and allow those labs to improve lab efficiency and time to results, t...

Fluorescence-Based Single-Tube Assays to Rapidly Detect Human Gene Mutations

... Ct value is 40 as PCR proceeds to 40 cycles. The Specific Kits The cftr (DF508) Mx4000 molecular beacon allelic discrimination kit ff , is ...ysis (assay details in kits manual). Examples of the results for cftr (DF508) allelic discrimination are shown in Figure 2...
CFTR in Biological Definition

Genetics

... reaction enabling the easy amplification of DNA 1989 The first human gene is sequenced by Francis Collins and Lap-Chee Tsui , it encodes the cftr protein, defects in this gene cause cystic fibrosis 1995 The genome of Haemophilus influenzae is the first genome of a free living organis...
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