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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.[] Here we report that CFTR interacts with the recently discovered protein, EBP50 (ERM-binding phosphoprotein 50).[] Cystic fibrosis is usually recognized in infancy or early childhood.[] BACKGROUND: Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level[] Endothelium-derived Toll-like receptor-4 is the key molecule in LPS-induced neutrophil sequestration into lungs. J. Clin.[] Abstract Mutations of cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis, the most common life-limiting recessive genetic disease among Caucasians[] 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[] 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[] […] 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.[] Intracellular ion sensitivity measurements showed that, as cell Na increases, cytoplasmic [K ] falls ( 138 ).[]

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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[] It results in a proline substitution by a serine at position 439, located in the nucleotide-binding domain (NBD) 1 of the CFTR protein.[] These developments help us to gain new insight into the genetic basis of phenotypic variability and the possible contributing mechanisms in cystic fibrosis.[] 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[] The CFTR gene was sequenced in all CBAVD cases.[] Such mutations could result in CFTR levels below the minimum 6%-10% necessary for normal protein function.[] Little is known about expression of the CFTR gene in the testis.[] The protein made from the CFTR gene forms a channel that transports negatively charged particles called chloride ions into and out of cells.[] BACKGROUND: Cystic fibrosis conductance transmembrane regulator (CFTR) gene mutations and IVS8 poly(T) variants in Portuguese patients with bilateral (CBAVD) and unilateral[] This study confirms the molecular heterogeneity of CFTR mutations in CAVD, and emphasizes the importance of an extensive CFTR analysis in these patients.[]

    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[] Cystic Fibrosis More than mucus 2. dr. ravindra k.[] cftr ORTHOLOGY for cftr (Chr: 18)[] […] von einem Gewebe, das dieses Protein nicht expremiert (Thymus, Lymphe, Muskel).[] List the complications of cystic fibrosis. Outline appropriate therapeutic modalities for the complications of cystic fibrosis.[] Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.[] […] 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[] Consult this title on your favorite e-reader , conduct rapid searches, and adjust font sizes for optimal readability.[] The bar plot below shows the proportion of tumor samples that have any kind of altering mutation(s) in the given protein.[] Cystic fibrosis at Curlie cf at NIH / UW GeneTests Search GeneCards for genes involved in cystic fibrosis Cystic Fibrosis Mutation Database[]

    Missing: IN of sequestration
  • Pseudomonas Aeruginosa

    Laboratory evaluation showed equivocal elevation of antiproteinase 3 antibodies with negative antineutrophil cytoplasmic antibody panel.[] […] 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[] Cystic Fibrosis 4,49–54 ( 2005 ).[] PTEN and the CF transmembrane conductance regulator (CFTR) interacted directly and this interaction was necessary to position PTEN at the membrane.[] For example, we demonstrate involvement of mitophagic regulators in the response to iron sequestration.[] 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[] 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.[] 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.[] Abstract Cystic fibrosis (CF) is the most common autosomal genetic recessive disease caused by mutations of gene encoding for the cystic fibrosis transmembrane conductance[] In addition, bacteriological analyses of respiratory tract specimens were conducted to determine patient infectious status.[]

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  • Polycystic Kidney Disease

    Two other cleavages liberate the cytoplasmic CTT of PC1 ( Fig. 1 ).[] 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%[] 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).[] Polycystin-2 is smaller, has transmembrane domains, can act as a cation channel with calcium permeability, and may be regulated by Polycystin-1.[] 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.[] Abstract Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease.[] […] of miR-181a, which is a known regulator of BCL2 expression.[] 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[] METHODS: A retrospective review of all adult PKD patients at our institution diagnosed with diverticulitis between 2000 and 2016 was conducted.[] The predicted 968-amino acid sequence of the PKD2 gene product (polycystin-2) contains 6 transmembrane domains, with intracellular N- and C-termini.[]

    Missing: IN of
  • Cystic Lung Disease

    […] epithelia, lymphonodes, thymic epithelium and bronchial epithelium, representing an immature form of dendritic cells with antigen presenting functions and characteristic cytoplasmic[] Proto-Oncogene Proteins Retrospective Studies Syndrome Tomography, X-Ray Computed Tumor Suppressor Proteins Pub Type(s) Journal Article Language eng PubMed ID 17505035 TY[] Metastatic disease - Sarcomas, mesenchymal tumors, and adenocarcinomas can present with cystic lung disease.[] Mikrobioms der Atemwege bei CF hinsichtlich neuer Hypothesen der polymikrobiellen Infektion Entwicklung und Standardisierung von sensitiven Endpunkten für CFTR (Cystic Fibrosis Transmembrane[] Final diagnosis included CCAM (n 12) and pulmonary sequestration (n 7). No late death was observed.[] […] the first appointment with your doctor about cystic fibrosis.[] 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[] Langerhans cells on light microscopy have an eosinophilic cytoplasm with grooved or convoluted shaped nuclei.[] 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[] […] is growing consensus that infants with asymptomatic lesions should undergo elective excision of congenital pulmonary adenomatoid malformation (CPAM) or bronchopulmonary sequestration[]

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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[] […] kit (LDBio Diagnostics), and a new in-house time-resolved fluorometric IgE assay (dissociation-enhanced lanthanide fluorescent immunoassay, or DELFIA) using recombinant proteins[] 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[] To assess the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in patients with allergic bronchopulmonary aspergillosis (ABPA).[] This image shows a masslike consolidation, with a developing air crescent adjacent to the central sequestrated lung, which mimics a mycetoma.[] 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[] Flotte , Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3 Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses[] 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[] This process releases A. fumigatus exoproteases and other secreted and cytoplasmic fungal products that are capable of further compromising mucociliary clearance, breaching[] 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[]

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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).[] […] 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[] Caused by defects in the gene for cystic fibrosis transmembrane conductance regulator (CFTR) which encodes for a protein that functions as a chloride channel.[] Bronchopulmonary sequestration is a congenital abnormality classified as either intralobar or extralobar and results in chronic lower respiratory tract infections that lead[] Migratory marker expression in fibroblast foci of idiopathic pulmonary fibrosis. Respir Res. 2006;7:95.[] Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) is comprised of 6 geographically-dispersed clinical research sites designed to study chronic disorders of the conducting[] […] 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[] Kingdom), Aarash Saleh, Bessie Kwok, Jeremy Brown, John Hurst International Congress 2015 – Adult bronchiectasis: risk factors and future perspectives [ ] Antineutrophil cytoplasmic[] 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[] […] 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[]

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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[] Herein, I would like to report the first case report of mass forming chronic pancreatitis mimicking pancreatic cystic neoplasm.[] Mutations in the cationic trypsinogen gene (PRSS1) cause hereditary pancreatitis, while mutations in serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane[] 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.[] The pancreatic chronic inflammation and the fibrosis indices were all remarkably attenuated (P 0.05).[] The TGF-β and BMP2 may function through inverse regulation of miR-200b levels.[] METHODS: This was a cross-sectional study of 166 outpatients with CP that was conducted at a tertiary referral center.[] 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.[] 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[] 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[]

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  • Meconium Ileus in Neonates (10-15%)

    Microscopic Features: Enterocytes have clear cytoplasm (due to lipid accumulation).[] […] 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[] Clinical science Abstract Cystic fibrosis (CF) is an autosomal recessive disorder caused by a mutation in the cystic fibrosis transmembrane conductance regulator ( CFTR )[] […] 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[] D569Thalassemia, unspecified D5740Sickle-cell thalassemia without crisis D57411Sickle-cell thalassemia with acute chest syndrome D57412Sickle-cell thalassemia with splenic sequestration[] Seite 139 - A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. ‎[] Expression of the cystic fibrosis transmembrane conductance regulator gene ( CFTR ) can be detected in the pancreatic ductules at 18 weeks’ gestation.[] 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[] Cystic fibrosis also causes increased salt in sweat on the skin. Who Is at Risk for Cystic Fibrosis?[] Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr. 2009 Dec;155(6 Suppl):S73-93.[]

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