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1,468 Possible Causes for (cystic, CFTR, conductance, cytoplasm, Fibrosis, IN, of, protein), regulator, sequestration, transmembrane

  • Cystic Fibrosis

    (C) Human osteoblasts (4 months, passage 8) with cytoplasm staining positive for CFTR. (D) Human multinucleate osteoclast with cytoplasm staining positive for CFTR.[ncbi.nlm.nih.gov] Here we report that CFTR interacts with the recently discovered protein, EBP50 (ERM-binding phosphoprotein 50).[doi.org] Cystic fibrosis is usually recognized in infancy or early childhood.[symptoma.com] BACKGROUND: Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level[ncbi.nlm.nih.gov] Endothelium-derived Toll-like receptor-4 is the key molecule in LPS-induced neutrophil sequestration into lungs. J. Clin.[ncbi.nlm.nih.gov] Abstract Mutations of cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis, the most common life-limiting recessive genetic disease among Caucasians[ncbi.nlm.nih.gov] Classes of CFTR mutations Mutations in the CFTR gene can be classified in six classes according to their molecular mechanisms and consequences for different aspects of CFTR[umd.be] The hope was that inhibiting the farnesylation of progerin would prevent the transport of progerin and hence its irreversible sequestration at the nuclear membrane ( Figure[doi.org] […] well established that F508del CFTR is degraded because of a misfolding of the protein that results in an almost complete lack of protein at the plasma membrane.[ncbi.nlm.nih.gov] Intracellular ion sensitivity measurements showed that, as cell Na increases, cytoplasmic [K ] falls ( 138 ).[doi.org]

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  • Congenital Absence of the Vas Deferens

    Alternatively, microscopic sperm aspiration followed by in vitro fertilization or intra-cytoplasmic injection may be successful in producing viable embryos for implantation[massgeneral.org] It results in a proline substitution by a serine at position 439, located in the nucleotide-binding domain (NBD) 1 of the CFTR protein.[doi.org] These developments help us to gain new insight into the genetic basis of phenotypic variability and the possible contributing mechanisms in cystic fibrosis.[ncbi.nlm.nih.gov] We applied a strategy of serial screening steps to 45 patients with congenital absence of the vas deferens and characterized cystic fibrosis transmembrane conductance regulator[ncbi.nlm.nih.gov] The CFTR gene was sequenced in all CBAVD cases.[ncbi.nlm.nih.gov] Such mutations could result in CFTR levels below the minimum 6%-10% necessary for normal protein function.[ncbi.nlm.nih.gov] Little is known about expression of the CFTR gene in the testis.[ncbi.nlm.nih.gov] The protein made from the CFTR gene forms a channel that transports negatively charged particles called chloride ions into and out of cells.[ghr.nlm.nih.gov] BACKGROUND: Cystic fibrosis conductance transmembrane regulator (CFTR) gene mutations and IVS8 poly(T) variants in Portuguese patients with bilateral (CBAVD) and unilateral[ncbi.nlm.nih.gov] This study confirms the molecular heterogeneity of CFTR mutations in CAVD, and emphasizes the importance of an extensive CFTR analysis in these patients.[ncbi.nlm.nih.gov]

    Missing: IN of sequestration
  • Bronchiectasis with or without Elevated Sweat Chloride 3

    […] vesicle membrane; microvillus; protein complex; early endosome membrane; basolateral plasma membrane; apical plasma membrane; early endosome; cytoplasm; plasma membrane Molecular[mybiosource.com] Cystic Fibrosis More than mucus 2. dr. ravindra k.[slideshare.net] cftr ORTHOLOGY for cftr (Chr: 18)[zfin.org] […] von einem Gewebe, das dieses Protein nicht expremiert (Thymus, Lymphe, Muskel).[abcam.com] List the complications of cystic fibrosis. Outline appropriate therapeutic modalities for the complications of cystic fibrosis.[pedsinreview.aappublications.org] Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.[arupconsult.com] […] cellular basis of kidney development, exploring the origins of kidney lineages, the development of kidney tissue subcompartments, as well as the genetic and environmental regulation[books.google.com] Consult this title on your favorite e-reader , conduct rapid searches, and adjust font sizes for optimal readability.[books.google.com] The bar plot below shows the proportion of tumor samples that have any kind of altering mutation(s) in the given protein.[phosphosite.org] Cystic fibrosis at Curlie cf at NIH / UW GeneTests CF-europe.eu Search GeneCards for genes involved in cystic fibrosis Cystic Fibrosis Mutation Database[en.wikipedia.org]

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  • Pseudomonas Aeruginosa

    Laboratory evaluation showed equivocal elevation of antiproteinase 3 antibodies with negative antineutrophil cytoplasmic antibody panel.[ncbi.nlm.nih.gov] […] the phenotypic biofilm production in P. aeruginosa isolates, describe clonal profiles, and analyze quorum sensing (QS) genes and the occurrence of mutations in the LasR protein[ncbi.nlm.nih.gov] Cystic Fibrosis 4,49–54 ( 2005 ).[doi.org] PTEN and the CF transmembrane conductance regulator (CFTR) interacted directly and this interaction was necessary to position PTEN at the membrane.[ncbi.nlm.nih.gov] For example, we demonstrate involvement of mitophagic regulators in the response to iron sequestration.[doi.org] 2003 Revised: 12/02/2003 Cover date: 01/05/2003 Abstract Fulltext Figs (7) References (59) Cited By (37) Supplementary Material (0) Metrics Related Content Preview this: Regulation[doi.org] WHAT IS KNOWN AND OBJECTIVE: The CFTR potentiator, ivacaftor (IVA), has been widely used in the treatment of cystic fibrosis (CF) patients with the G551D mutation.[ncbi.nlm.nih.gov] The genetic control and cytoplasmic expression of “inducibility” in the synthesis of β-galactosidase in E. coli . J. Mol. Biol. 1 , 165–178 (1959) 18. Bloemberg, G.[doi.org] Abstract Cystic fibrosis (CF) is the most common autosomal genetic recessive disease caused by mutations of gene encoding for the cystic fibrosis transmembrane conductance[ncbi.nlm.nih.gov] In addition, bacteriological analyses of respiratory tract specimens were conducted to determine patient infectious status.[ncbi.nlm.nih.gov]

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  • Polycystic Kidney Disease

    Two other cleavages liberate the cytoplasmic CTT of PC1 ( Fig. 1 ).[doi.org] The longest open reading frame of the mouse ortholog of PKHD1 encodes a protein of 4059 amino acids; the mouse and human protein sequences are 73% identical overall and 55%[jasn.asnjournals.org] PKD1 kidneys were significantly larger, but the rate of cystic growth (PKD1 5.68%/yr; PKD2 4.82%/yr) was not different (P 0.24).[jasn.asnjournals.org] Polycystin-2 is smaller, has transmembrane domains, can act as a cation channel with calcium permeability, and may be regulated by Polycystin-1.[ncbi.nlm.nih.gov] Defective ubiquitination of c-Met in Pkd1 –/– cells appears to be due to sequestration of c-Cbl in the Golgi apparatus by α 3 β 1 integrin.[ncbi.nlm.nih.gov] Abstract Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease.[ncbi.nlm.nih.gov] […] of miR-181a, which is a known regulator of BCL2 expression.[ncbi.nlm.nih.gov] Elsevier Health Sciences , Sep 5, 2014 - Medical - 1320 pages Consult this title on your favorite e-reader , conduct rapid searches, and adjust font sizes for optimal readability[books.google.com] METHODS: A retrospective review of all adult PKD patients at our institution diagnosed with diverticulitis between 2000 and 2016 was conducted.[ncbi.nlm.nih.gov] The predicted 968-amino acid sequence of the PKD2 gene product (polycystin-2) contains 6 transmembrane domains, with intracellular N- and C-termini.[ebi.ac.uk]

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  • Cystic Lung Disease

    […] epithelia, lymphonodes, thymic epithelium and bronchial epithelium, representing an immature form of dendritic cells with antigen presenting functions and characteristic cytoplasmic[shortnessofbreath.it] Proto-Oncogene Proteins Retrospective Studies Syndrome Tomography, X-Ray Computed Tumor Suppressor Proteins Pub Type(s) Journal Article Language eng PubMed ID 17505035 TY[unboundmedicine.com] Metastatic disease - Sarcomas, mesenchymal tumors, and adenocarcinomas can present with cystic lung disease.[symptoma.com] Mikrobioms der Atemwege bei CF hinsichtlich neuer Hypothesen der polymikrobiellen Infektion Entwicklung und Standardisierung von sensitiven Endpunkten für CFTR (Cystic Fibrosis Transmembrane[dzl.de] Final diagnosis included CCAM (n 12) and pulmonary sequestration (n 7). No late death was observed.[ncbi.nlm.nih.gov] […] the first appointment with your doctor about cystic fibrosis.[lung.org] METHODS: We conducted a retrospective review of CT scans of the chest or abdomen for cystic lung lesions on 176 adult patients who received a diagnosis of sporadic renal AML[ncbi.nlm.nih.gov] Langerhans cells on light microscopy have an eosinophilic cytoplasm with grooved or convoluted shaped nuclei.[ncbi.nlm.nih.gov] METHODS: We conducted a retrospective multicenter study of seven patients who underwent LT for cystic lung LCDD in France between September 1992 and June 2012 in five centers[ncbi.nlm.nih.gov] […] is growing consensus that infants with asymptomatic lesions should undergo elective excision of congenital pulmonary adenomatoid malformation (CPAM) or bronchopulmonary sequestration[ncbi.nlm.nih.gov]

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  • Allergic Bronchopulmonary Aspergillosis

    […] woman was diagnosed with CSS based upon asthma, eosinophilia (23%), chest radiographic findings, paranasal sinusitis, peripheral neuropathy and positive p- anti-neutrophil cytoplasmic[ncbi.nlm.nih.gov] […] kit (LDBio Diagnostics), and a new in-house time-resolved fluorometric IgE assay (dissociation-enhanced lanthanide fluorescent immunoassay, or DELFIA) using recombinant proteins[ncbi.nlm.nih.gov] Utilize este identificador para referenciar este registo: Título: Cystic Fibrosis, Atopy, Asthma and ABPA Autor: Fernandes, A Borrego, LM Leiria-Pinto, P Cavaco, J Palavras-chave[hdl.handle.net] To assess the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in patients with allergic bronchopulmonary aspergillosis (ABPA).[ncbi.nlm.nih.gov] This image shows a masslike consolidation, with a developing air crescent adjacent to the central sequestrated lung, which mimics a mycetoma.[emedicine.com] Both phorbol 12-myristate 13-acetate (PMA)/ionomycin (IO) and antigen stimulated, toxoid and Asp f2/f3/f4, PBMC were examined for cytoplasmic cytokine synthesis enumerated[ncbi.nlm.nih.gov] Flotte , Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3 Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses[doi.org] We also conducted cross-sectional validation in a separate patient set (Dublin cohort).Basophil CD203c surface expression reliably discriminated CF-ABPA from CF-AC and CF[ncbi.nlm.nih.gov] This process releases A. fumigatus exoproteases and other secreted and cytoplasmic fungal products that are capable of further compromising mucociliary clearance, breaching[doi.org] The role of atopy on cystic fibrosis (CF) progression remains unclear but evidence suggests that it may influence the appearance of co-morbid conditions such as CF asthma[ncbi.nlm.nih.gov]

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  • Idiopathic Bronchiectasis

    Six of the CFs, but none of the IBRs or controls had positive serum cytoplasmic or perinuclear-ANCA (c-ANCA, p-ANCA).[ncbi.nlm.nih.gov] […] fibrosis E84.19 Cystic fibrosis E84.8 Cystic fibrosis E84.9 Cystic fibrosis Sample Requirements Blood (min. 1ml) in an EDTA tube Extracted DNA, min. 2 μg in TE buffer or[blueprintgenetics.com] Caused by defects in the gene for cystic fibrosis transmembrane conductance regulator (CFTR) which encodes for a protein that functions as a chloride channel.[quizlet.com] Bronchopulmonary sequestration is a congenital abnormality classified as either intralobar or extralobar and results in chronic lower respiratory tract infections that lead[emedicine.medscape.com] Migratory marker expression in fibroblast foci of idiopathic pulmonary fibrosis. Respir Res. 2006;7:95.[bmcpulmmed.biomedcentral.com] Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) is comprised of 6 geographically-dispersed clinical research sites designed to study chronic disorders of the conducting[clinicaltrials.gov] […] gene, which encodes surfactant protein C (surfactant is a mixture of fats and proteins that reduces surface tension of fluids that coat the lungs); and mutations of the TERT[rarediseases.org] Kingdom), Aarash Saleh, Bessie Kwok, Jeremy Brown, John Hurst International Congress 2015 – Adult bronchiectasis: risk factors and future perspectives [ ] Antineutrophil cytoplasmic[ers-education.org] Cystic Fibrosis Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutation in the cystic fibrosis transmembrane conductance regular gene.[49] Although usually[bronchiectasis.eu] […] can be performed by nebulization of hypertonic saline CBC with differential Serum quantitative immunoglobulin levels: IgG, IgA, IgM Sweat chloride (2 measurements) and CF transmembrane[clinicaladvisor.com]

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  • Chronic Pancreatitis

    BACKGROUND: There are a limited number of studies investigating the type of serum proteins capable of differentiating intraductal papillary mucinous neoplasms from benign[ncbi.nlm.nih.gov] Herein, I would like to report the first case report of mass forming chronic pancreatitis mimicking pancreatic cystic neoplasm.[ncbi.nlm.nih.gov] Mutations in the cationic trypsinogen gene (PRSS1) cause hereditary pancreatitis, while mutations in serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane[ncbi.nlm.nih.gov] Two days later, five other values are reviewed: hematocrit decrease 10%, BUN increase 4 mg/dL, serum calcium 8 mg/dL, PaO2 60 mmHg, and fluid sequestration 6 L.[physio-pedia.com] The pancreatic chronic inflammation and the fibrosis indices were all remarkably attenuated (P 0.05).[ncbi.nlm.nih.gov] The TGF-β and BMP2 may function through inverse regulation of miR-200b levels.[ncbi.nlm.nih.gov] METHODS: This was a cross-sectional study of 166 outpatients with CP that was conducted at a tertiary referral center.[ncbi.nlm.nih.gov] AIMS: We performed a study to demonstrate the relationship between CFTR and CP. METHODS: We searched PubMed, Scopus, and Embase for studies of patients with CP.[ncbi.nlm.nih.gov] PATIENT CONCERNS: A 46-year-old man with chronic pancreatitis presented multiple small cystic lesions inside the head of the pancreas and two large cystic lesions adjacent[ncbi.nlm.nih.gov] MATERIAL AND METHOD: We have conducted the study at the Gastroenterology Clinic and the Research Center of Gastroenterology and Hepatology of the University of Medicine and[ncbi.nlm.nih.gov]

    Missing: cytoplasm IN of
  • Meconium Ileus in Neonates (10-15%)

    Microscopic Features: Enterocytes have clear cytoplasm (due to lipid accumulation).[librepathology.org] […] and Infant 551 Intervention Strategies 555 UNIT VI 563 Electronic Medical Records and Technology 567 Integrating Computer Information Systems 569 Impact of Genomics 577 Protein[books.google.de] Clinical science Abstract Cystic fibrosis (CF) is an autosomal recessive disorder caused by a mutation in the cystic fibrosis transmembrane conductance regulator ( CFTR )[amboss.com] […] pregnancy, when genetic analysis of amniocentesis fluid showed the fetus to be heterozygous for known disease-causing mutations p.F509del and p.V603SfsX8 in the cystic fibrosis transmembrane[nejm.org] D569Thalassemia, unspecified D5740Sickle-cell thalassemia without crisis D57411Sickle-cell thalassemia with acute chest syndrome D57412Sickle-cell thalassemia with splenic sequestration[cms.gov] Seite 139 - A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. ‎[books.google.de] Expression of the cystic fibrosis transmembrane conductance regulator gene ( CFTR ) can be detected in the pancreatic ductules at 18 weeks’ gestation.[emedicine.medscape.com] The mineralocorticoid aldosterone, which is produced in the adrenal cortex and has special receptors for sodium regulation in the renal tubules, is essential for regulating[tidsskriftet.no] Cystic fibrosis also causes increased salt in sweat on the skin. Who Is at Risk for Cystic Fibrosis?[chp.edu] Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr. 2009 Dec;155(6 Suppl):S73-93.[rarediseases.org]

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