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199 Possible Causes for D,, DUCH, GLYCOPHORIN, LEU14PHE, VARIANT

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  • Hereditary Elliptocytosis

    These proteins, in turn, anchor the scaffold to the lipid bilayer by linking to the transmembrane proteins band 3, glycophorin A, and glycophorin C.[] Hung-Yu Chang, Xuejin Li, He Li, George Em Karniadakis and Andrew D.[] Abstract A kindred is described in which two brothers with a poikilocytic variant of hereditary elliptocytosis (HE) were found to have a defect of spectrin dimer association[] , Sp alpha I/65, Sp alpha I/46 variants).[] There are three phenotypes caused by abnormal glycophorin C, these are named Gerbich, Yus and Leach (see glycophorin C for more information).[]

    Missing: DUCH LEU14PHE
  • Infectious Mononucleosis

    RosetteSepTM B-cell enrichment cocktail, a cyclic tetramolecular complex of monoclonal Abs directed to CD2, CD3, CD4, CD8, CD14, CD16, CD56 cell surface markers and red blood cell glycophorine[] We also measured vitamin D levels in healthy controls recruited during the same period of time.[] The value of plasmapheresis in acute inflammatory demyelinating polyradiculopathy (Guillain—Barré syndrome) is well established. 2 , 3 Variants of Guillain—Barré syndrome[] Each patient sample was analyzed with a probe of the undeleted Ch2 variant and the deleted Med variant to precisely identify the strains present.[] BACKGROUND: Seasonal fluctuations in solar radiation and vitamin D levels could modulate the immune response against Epstein-Barr virus (EBV) infection and influence the subsequent[]

    Missing: DUCH LEU14PHE
  • Idiopathic Pulmonary Fibrosis

    , Stollery D , Strek M , Tino G , Wallaert B , Wells A , Whelan T , Wilcox P , Zibrak J , Ziora D , Zisman D , Acosta O , Ancochea J , Bonnet R , Brantly M , Chapman J , Davis[] Giménez A, Duch P, Puig M, Gabasa M, Xaubet A, Alcaraz J.[] We aimed to identify genetic variants associated with IPF susceptibility and provide mechanistic insight using gene and protein expression analyses.[] variants elsewhere in the genome.[] Martinez, D. Weycker.[]

  • Generalized Epilepsy with Febrile Seizures Plus

    Malaria GYPC glycophorin C (Gerbich blood group) 2q14.3 Malaria, Hereditary Elliptocytosis Herpes Zoster GYPE glycophorin E (MNS blood group) 4q31.21 Congenital Dyserythropoietic[] Simon D.[] […] patients with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convulsions were screened by conformation-sensitive gel electrophoresis and manual sequencing of variants[] Duch, and B.W. Urban. 1998 . Steady-state properties of sodium channels from healthy and tumorous human brain. Brain Res. Mol. Brain Res. 59 : 22 –34. Fujiwara, T., T.[] Corey and D. E.[]

    Missing: LEU14PHE
  • Autosomal Dominant Macrothrombocytopenia

    The pathogenesis of this condition is unclear though unusual expression of glycophorin A on the surface of platelets has been proposed. [10] There is no known specific treatment[] PMID: 28795988 Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ,[] A small number of variants in GP1BA have been reported to cause a milder and dominant form of macrothrombocytopenia, but only 2 tentative reports exist of such a variant in[] Pagina 207 - Quinn MT, Parthasarathy S, Fong LG, Steinberg D.[] Campbell Tait , Andrew D. Mumford , NIHR BioResource , Michael A. Laffan , Kathleen Freson , Willem H.[]

    Missing: DUCH LEU14PHE
  • Vitamin D

    d.[] Cals MJ, Bories PN, Devanlay M, Desveaux N, Luciani L, Succari M, Duche JC, de Jaeger C, Blonde-Cynober F, Coudray-Lucas C (1994) Extensive laboratory assessment of nutritional[] The objective of this meta-analysis was to evaluate the association between CYP2R1 gene variants and 25(OH)D levels and vitamin D status.[] On average, 58,000 variants were identified in each individual. A rare variant in the CYP27B1 gene causing complete loss of gene function was identified in 1 individual.[] In recent years, there have been reports suggesting a high prevalence of low vitamin D intakes and vitamin D deficiency or inadequate vitamin D status in Europe.[]

  • Acute Erythremia

    Evaluation of clinical data, of cytological and histological findings in blood and bone marrow, and of occasional immunophenotyping of blast cells (anti-glycophorin A ) revealed[] The regimen for induction therapy is the “7 3” regimen: Cytarabine at 100 mg/m 2 /d intravenously (IV) by continuous infusion on days 1-7 plus an anthracycline (idarubicin[] This study was undertaken to define and compare the clinical courses and survival outcomes among M6A, M6B, and M6C variants of erythroleukemia.[] Those blasts were negative for lymphoid, myelocytic, megakaryocytic markers and anti-glycophorin A, but positive for OKT 9.[] M. , D. Catovsky , M. T. Daniel , et al .[]

    Missing: DUCH LEU14PHE
  • Hereditary Pyropoikilocytosis

    The concomitant reduction in glycophorins A and C, and CD59 in HPP could have caused cellular contraction, resulting in poikilocytosis. 2010 Blackwell Publishing Ltd.[] Rakel, MD; and Rick D.[] Author: Teresa Scordino Category: Morphologic variants of normal cells Morphologic variants of Red Blood Cells/precursors Normal Red blood cell morphology with resting lymphocyte[] R D Christensen, A M Agarwal, R H Nussenzveig, N Heikal, M A Liew and H M Yaish , Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in[] Ogburn PL Jr, Ramin KD, Danilenko-Dixon D, Fairbanks VF, Ramsey PS.[]

    Missing: DUCH LEU14PHE
  • Childhood Hodgkin's Disease

    The glycophorin A (GPA) mutation assay measures the frequency of NO and NN mutant erythrocytes of MN blood-group heterozygous individuals.[] Positron emission tomography with 2-[18F] fluoro-2-deoxy-D-glucose administration is also reliable in evaluating the extent of the disease.[] Some cases may have "popcorn cells" present, variants of the classical Sternberg- Reed cell. "Popcorn cells" are CD 20 positive and CD30 and CD15 negative.[]

    Missing: DUCH LEU14PHE
  • Autosomal Dominant Distal Renal Tubular Acidosis

    Abbreviations: AE, anion exchanger; C12E8, octaethylene glycol mono-n-dodecyl ether; dRTA, distal renal tubular acidosis; eAE1, erythroid AE1; ER, endoplasmic reticulum; GPA, glycophorin[] Intoxication (see Vitamin D , [[Vitamin D]]) Autoimmune Disease Chronic Active Hepatitis Hashimoto’s Thyroiditis (see Hashimoto’s Thyroiditis , [[Hashimotos Thyroiditis]])[] : English Type : Journal Article In AGRIS since : 2013 Volume : 37 Issue : 3 Start Page : 473 End Page : 478 Publisher : Boston : Springer US All titles : " novel SLC4A1 variant[] However, some altered AE1 proteins cannot be helped by glycophorin A and are not found in the cell membrane.[] Find articles by Cope, D. in: JCI PubMed Google Scholar Department of Biochemistry, School of Medical Sciences, University of Bristol, United Kingdom.[]

    Missing: DUCH LEU14PHE