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La ricerca find articoli where soggetti phrase all words 'FISH-EYE DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 39 riferimenti
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    1. Doevendans, PA; Jukema, W; Spiering, W; Defesche, JC; Kastelein, JJP
      Molecular genetics and gene expression in atherosclerosis

      INTERNATIONAL JOURNAL OF CARDIOLOGY
    2. Peelman, F; Vanloo, B; Verschelde, JL; Labeur, C; Caster, H; Taveirne, J; Verhee, A; Duverger, N; Vandekerckhove, J; Tavernier, J; Rosseneu, M
      Effect of mutations of N- and C-terminal charged residues on the activity of LCAT

      JOURNAL OF LIPID RESEARCH
    3. Lambert, G; Sakai, N; Vaisman, BL; Neufeld, EB; Marteyn, B; Chan, CC; Paigen, B; Lupia, E; Thomas, A; Striker, LJ; Blanchette-Mackie, J; Csako, G; Brady, JN; Costello, R; Striker, GE; Remaley, AT; Brewer, HB; Santamarina-Fojo, S
      Analysis of glomerulosclerosis and atherosclerosis in lecithin cholesterolacyltransferase-deficient mice

      JOURNAL OF BIOLOGICAL CHEMISTRY
    4. Rosset, J; Wang, J; Wolfe, BM; Dolphin, PJ; Hegele, RA
      Lecithin : cholesterol acyl transferase G30S: association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity

      CLINICAL BIOCHEMISTRY
    5. Murray, KR; Nair, MP; Ayyobi, AF; Hill, JS; Pritchard, PH; Lacko, AG
      Probing the 121-136 domain of lecithin : cholesterol acyltransferase usingantibodies

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    6. Santamarina-Fojo, S; Lambert, G; Hoeg, JM; Brewer, HB
      Lecithin-cholesterol acyltransferase: role in lipoprotein metabolism, reverse cholesterol transport and atherosclerosis

      CURRENT OPINION IN LIPIDOLOGY
    7. Jimi, S; Uesugi, N; Saku, K; Itabe, H; Zhang, B; Arakawa, K; Takebayashi, S
      Possible induction of renal dysfunction in patients with lecithin : cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    8. Moghadasian, MH; Nguyen, LB; Shefer, S; McManus, BM; Frohlich, JJ
      Histologic, hematologic, and biochemical characteristics of apo E-deficient mice: Effects of dietary cholesterol and phytosterols

      LABORATORY INVESTIGATION
    9. Peelman, F; Verschelde, JL; Vanloo, B; Ampe, C; Labeur, C; Tavernier, J; Vandekerckhove, J; Rosseneu, M
      Effects of natural mutations in lecithin : cholesterol acyltransferase on the enzyme structure and activity

      JOURNAL OF LIPID RESEARCH
    10. Winder, AF; Owen, JS; Pritchard, PH; Lloyd-Jones, D; Vallance, DT; White, P; Wray, R
      A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure andexpression

      JOURNAL OF CLINICAL PATHOLOGY
    11. Teh, EM; Chisholm, JW; Dolphin, PJ; Pouliquen, Y; Savoldelli, M; de Gennes, JL; Benlian, P
      Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144

      ATHEROSCLEROSIS
    12. CIRERA S; JULVE J; FERRER I; MAINOU C; BENET R; MARTINCAMPOS JM; GONZALEZSASTRE F; BLANCOVACA F
      MOLECULAR DIAGNOSIS OF LECITHIN - CHOLESTEROL ACYLTRANSFERASE DEFICIENCY IN A PRESYMPTOMATIC PROBAND

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    13. MIETTINEN HE; GYLLING H; TENHUNEN J; VIRTAMO J; JAUHIAINEN M; HUTTUNEN JL; KANTOLA I; MIETTINEN TA; KONTULA K
      MOLECULAR-GENETIC STUDY OF FINNS WITH HYPOALPHALIPOPROTEINEMIA AND HYPERALPHALIPOPROTEINEMIA - A NOVEL GLY(230)ARG MUTATION (LCAT(FIN)) OF LECITHIN-CHOLESTEROL ACYLTRANSFERASE (LCAT) ACCOUNTS FOR 5-PERCENT OF CASES WITH VERY-LOW SERUM HDL CHOLESTEROL LEVELS

      Arteriosclerosis, thrombosis, and vascular biology
    14. ARGYROPOULOS G; JENKINS A; KLEIN RL; LYONS T; WAGENHORST B; STARMAND J; MARCOVINA SM; ALBERS JJ; PRITCHARD PH; GARVEY WT
      TRANSMISSION OF 2 NOVEL MUTATIONS IN A PEDIGREE WITH FAMILIAL LECITHIN-CHOLESTEROL ACYLTRANSFERASE DEFICIENCY - STRUCTURE-FUNCTION-RELATIONSHIPS AND STUDIES IN A COMPOUND HETEROZYGOUS PROBAND

      Journal of lipid research
    15. Adimoolam, S; Jin, LH; Grabbe, E; Shieh, JJ; Jonas, A
      Structural and functional properties of two mutants of lecithin-cholesterol acyltransferase (T123I and N228K)

      JOURNAL OF BIOLOGICAL CHEMISTRY
    16. LI M; KUIVENHOVEN JA; AYYOBI AF; PRITCHARD PH
      T-]G OR T-]A MUTATION INTRODUCED IN THE BRANCHPOINT CONSENSUS SEQUENCE OF INTRON-4 OF LECITHIN-CHOLESTEROL ACYLTRANSFERASE (LCAT) GENE - INTRON RETENTION CAUSING LCAT DEFICIENCY

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    17. DUGI KA; VAISMAN BL; SAKAI N; KNAPPER CL; MEYN SM; BREWER HB; SANTAMARINAFOJO S
      ADENOVIRUS-MEDIATED EXPRESSION OF HEPATIC LIPASE IN LCAT TRANSGENIC MICE

      Journal of lipid research
    18. YANG XP; INAZU A; HONJO A; KOIZUMI I; KAJINAMI K; KOIZUMI J; MARCOVINA SM; ALBERS JJ; MABUCHI H
      CATALYTICALLY INACTIVE LECITHIN - CHOLESTEROL ACYLTRANSFERASE (LCAT) CAUSED BY A GLY-30 TO SER MUTATION IN A FAMILY WITH LCAT DEFICIENCY

      Journal of lipid research
    19. KUIVENHOVEN JA; PRITCHARD H; HILL J; FROHLICH J; ASSMANN G; KASTELEIN J
      THE MOLECULAR PATHOLOGY OF LECITHIN - CHOLESTEROL ACYLTRANSFERASE (LCAT) DEFICIENCY SYNDROMES

      Journal of lipid research
    20. BROUSSEAU ME; SANTAMARINAFOJO S; VAISMAN BL; APPLEBAUMBOWDEN D; BERARD AM; TALLEY GD; BREWER HB; HOEG JM
      OVEREXPRESSION OF HUMAN LECITHIN-CHOLESTEROL ACYLTRANSFERASE IN CHOLESTEROL-FED RABBITS - LDL METABOLISM AND HDL METABOLISM ARE AFFECTED INA GENE DOSE-DEPENDENT MANNER

      Journal of lipid research
    21. GUERIN M; DACHET C; GOULINET S; CHEVET D; DOLPHIN PJ; CHAPMAN MJ; ROUIS M
      FAMILIAL LECITHIN - CHOLESTEROL ACYLTRANSFERASE DEFICIENCY - MOLECULAR ANALYSIS OF A COMPOUND HETEROZYGOTE - LCAT (ARG(147)-]TRP) AND LCAT (TYR(171)-]STOP)

      Atherosclerosis
    22. LEE YP; ADIMOOLAM S; LIU M; SUBBAIAH PV; GLENN K; JONAS A
      ANALYSIS OF HUMAN LECITHIN-CHOLESTEROL ACYLTRANSFERASE ACTIVITY BY CARBOXYL-TERMINAL TRUNCATION

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    23. CULLEN P; VONECKARDSTEIN A; ASSMANN G
      GENETIC AND ACQUIRED ABNORMALITIES OF LIPOPROTEIN METABOLISM

      Cardiovascular risk factors
    24. KUIVENHOVEN JA; STALENHOEF AFH; HILL JS; DEMACKER PNM; ERRAMI A; KASTELEIN JJP; PRITCHARD PH
      2 NOVEL MOLECULAR DEFECTS IN THE LCAT GENE ARE ASSOCIATED WITH FISH EYE DISEASE

      Arteriosclerosis, thrombosis, and vascular biology
    25. MARCIL M; BOUCHER B; KRIMBOU L; SOLYMOSS BC; DAVIGNON J; FROHLICH J; GENEST J
      SEVERE FAMILIAL HDL DEFICIENCY IN FRENCH-CANADIAN KINDREDS - CLINICAL, BIOCHEMICAL, AND MOLECULAR CHARACTERIZATION

      Arteriosclerosis, thrombosis, and vascular biology
    26. VONECKARDSTEIN A; HUANG YD; WU SL; FUNKE H; NOSEDA G; ASSMANN G
      REVERSE CHOLESTEROL TRANSPORT IN PLASMA OF PATIENTS WITH DIFFERENT FORMS OF FAMILIAL HDL DEFICIENCY

      Arteriosclerosis, thrombosis, and vascular biology
    27. MIETTINEN H; GYLLING H; MIETTINEN TA; KONTULA K
      2 DIFFERENT ALLELIC MUTATIONS IN A FINNISH FAMILY WITH LECITHIN, CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

      Arteriosclerosis, thrombosis, and vascular biology
    28. STEYRER E; HAUBENWALLNER S; HORL G; GIESSAUF W; KOSTNER GM; ZECHNER R
      A SINGLE G-NUCLEOTIDE TO A-NUCLEOTIDE TRANSITION IN EXON IV OF THE LECITHIN - CHOLESTEROL ACYLTRANSFERASE (LCAT) GENE RESULTS IN AN ARG(140) TO HIS SUBSTITUTION AND CAUSES LCAT-DEFICIENCY

      Human genetics
    29. QU SJ; FAN HZ; BLANCOVACA F; POWNALL HJ
      IN-VITRO EXPRESSION OF NATURAL MUTANTS OF HUMAN LECITHIN-CHOLESTEROL ACYLTRANSFERASE

      Journal of lipid research
    30. HENGSTSCHLAGEROTTNAD E; KUCHLER K; SCHNEIDER WJ
      CHICKEN LECITHIN-CHOLESTEROL ACYLTRANSFERASE - MOLECULAR CHARACTERIZATION REVEALS UNUSUAL STRUCTURE AND EXPRESSION PATTERN

      The Journal of biological chemistry
    31. KLEIN HG; DUVERGER N; ALBERS JJ; MARCOVINA S; BREWER HB; SANTAMARINAFOJO S
      IN-VITRO EXPRESSION OF STRUCTURAL DEFECTS IN THE LECITHIN-CHOLESTEROLACYLTRANSFERASE GENE

      The Journal of biological chemistry
    32. MEHLUM A; STAELS B; DUVERGER N; TAILLEUX A; CASTRO G; FIEVET C; LUC G; FRUCHART JC; OLIVECRONA G; SKRETTING G; AUWERX J; PRYDZ H
      TISSUE-SPECIFIC EXPRESSION OF THE HUMAN GENE FOR LECITHIN-CHOLESTEROLACYLTRANSFERASE IN TRANSGENIC MICE ALTERS BLOOD-LIPIDS, LIPOPROTEINS AND LIPASES TOWARDS A LESS ATHEROGENIC PROFILE

      European journal of biochemistry
    33. FRANCESCHINI G; WERBA JP; CALABRESI L
      DRUG-CONTROL OF REVERSE CHOLESTEROL TRANSPORT

      Pharmacology & therapeutics
    34. SCHAEFER EJ
      FAMILIAL LIPOPROTEIN DISORDERS AND PREMATURE CORONARY-ARTERY DISEASE

      The Medical clinics of North America
    35. SCHONFELD G
      RECENT CONCEPTS OF LIPOPROTEIN PATHOPHYSIOLOGY

      Atherosclerosis
    36. SCHAEFER EJ; GENEST JJ; ORDOVAS JM; SALEM DN; WILSON PWF
      FAMILIAL LIPOPROTEIN DISORDERS AND PREMATURE CORONARY-ARTERY DISEASE

      Atherosclerosis
    37. SERFATYLACROSNIERE C; CIVEIRA F; LANZBERG A; ISAIA P; BERG J; JANUS ED; SMITH MP; PRITCHARD PH; FROHLICH J; LEES RS; BARNARD GF; ORDOVAS JM; SCHAEFER EJ
      HOMOZYGOUS TANGIER-DISEASE AND CARDIOVASCULAR-DISEASE

      Atherosclerosis
    38. KLEIN HG; SANTAMARINAFOJO S; DUVERGER N; CLERC M; DUMON MF; ALBERS JJ; MARCOVINA S; BREWER HB
      FISH EYE SYNDROME - A MOLECULAR DEFECT IN THE LECITHIN-CHOLESTEROL ACYLTRANSFERASE (LCAT) GENE ASSOCIATED WITH NORMAL ALPHA-LCAT-SPECIFIC ACTIVITY - IMPLICATIONS FOR CLASSIFICATION AND PROGNOSIS

      The Journal of clinical investigation
    39. BROUSSEAU T; FRUCHART JC
      CLASSIFICATION OF GENETIC DYSLIPOPROTEINE MIAS

      Annales de medecine interne


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/21 alle ore 01:55:52