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    1. Schneppenheim, R; Budde, U; Ruggeri, ZM
      A molecular approach to the classification of von Willebrand disease

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    2. Eikenboom, JCJ
      Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    3. Sawabe, T; Horiuchi, T; Nakamura, M; Tsukamoto, H; Nakahara, K; Harashima, S; Tsuchiya, T; Nakano, S
      Defect of lck in a patient with common variable immunodeficiency

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    4. Gache, Y; Allegra, M; Bodemer, C; Pisani-Spadafora, A; de Prost, Y; Ortonne, JP; Meneguzzi, G
      Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging

      HUMAN MOLECULAR GENETICS
    5. Ramunno, L; Longobardi, E; Pappalardo, M; Rando, A; Di Gregorio, P; Cosenza, G; Mariani, P; Pastore, N; Masina, P
      An allele associated with a non-detectable amount of alpha s(2) casein in goat milk

      ANIMAL GENETICS
    6. Kohrer, C; Xie, L; Kellerer, S; Varshney, U; Rajbhandary, UL
      Import of amber and ochre suppressor tRNAs into mammalian cells: A generalapproach to site-specific insertion of amino acid analogues into proteins

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    7. Asselta, R; Duga, S; Spena, S; Santagostino, E; Peyvandi, F; Piseddu, G; Targhetta, R; Malcovati, M; Mannucci, PM; Tenchini, ML
      Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs

      BLOOD
    8. Tu, MH; Tong, WD; Perkins, R; Valentine, CR
      Predicted changes in pre-mRNA secondary structure vary in their association with exon skipping for mutations in exons 2, 4, and 8 of the Hprt gene and exon 51 of the fibrillin gene

      MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
    9. Yeowell, HN; Walker, LC
      Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiencyand the clinical phenotype of Ehlers-Danlos syndrome type VI

      MOLECULAR GENETICS AND METABOLISM
    10. Messiaen, LM; Callens, T; Mortier, G; Beysen, D; Vandenbroucke, I; Van Roy, N; Speleman, F; De Paepe, A
      Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

      HUMAN MUTATION
    11. Beers, MF; Hamvas, A; Moxley, MA; Gonzales, LW; Guttentag, SH; Solarin, KO; Longmore, WJ; Nogee, LM; Ballard, PL
      Pulmonary surfactant metabolism in infants lacking surfactant protein B

      AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
    12. Ars, E; Serra, E; Garcia, J; Kruyer, H; Gaona, A; Lazaro, C; Estivill, X
      Mutations affecting mRNA splicing are the most common molecular defects inpatients with neurofibromatosis type 1

      HUMAN MOLECULAR GENETICS
    13. Chen, J; Yu, Z; Ford, BN; Brackley, ME; Haesevoets, RJC; Khaidakov, M; Glickman, BW
      Screening a human population sample for DNA repair gene deficiencies utilizing the protein truncation test

      ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
    14. Gutzner, R; Herbst, RA; Mommert, S; Kiehl, P; Matiaske, F; Rutten, A; Kapp, A; Weiss, J
      Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma

      HUMAN GENETICS
    15. Baronciani, L; Cozzi, G; Canciani, MT; Peyvandi, F; Srivastava, A; Federici, AB; Mannucci, PM
      Molecular characterization of a multiethnic group of 21 patients with type3 von Willebrand disease

      THROMBOSIS AND HAEMOSTASIS
    16. Kambouris, M; Banjar, H; Moggari, I; Nazer, H; Al-Hamed, M; Meyer, BF
      Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

      EUROPEAN JOURNAL OF PEDIATRICS
    17. Lipscomb, DL; Bourne, C; Boudreaux, MK
      Two genetic defects in alpha(IIb) are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and asplicing defect of intron 13

      VETERINARY PATHOLOGY
    18. Sun, HZ; Chasin, LA
      Multiple splicing defects in an intronic false exon

      MOLECULAR AND CELLULAR BIOLOGY
    19. Phakdeekitcharoen, B; Watnick, TJ; Ahn, C; Whang, DY; Burkhart, B; Germino, GG
      Thirteen novel mutations of the replicated region of PKD1 in an Asian population

      KIDNEY INTERNATIONAL
    20. Claass, A; Sommer, M; de Jonge, H; Kalin, N; Tummler, B
      Applicability of different antibodies for immunohistochemical localizationof CFTR in sweat glands from healthy controls and from patients with cystic fibrosis

      JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
    21. Brogna, S
      Nonsense mutations in the alcohol dehydrogenase gene of Drosophila melanogaster correlate with an abnormal 3 ' end processing of the corresponding pre-mRNA

      RNA-A PUBLICATION OF THE RNA SOCIETY
    22. Thorland, EC; Drost, JB; Lusher, JM; Warrier, I; Shapiro, A; Koerper, MA; Dimichele, D; Westman, J; Key, NS; Sommer, SS
      Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk

      HAEMOPHILIA
    23. Viskochil, D
      In search of the Holy Grail: NF1 mutation analysis and genotype-phenotype correlation

      GENETICS IN MEDICINE
    24. Walker, LC; Marini, JC; Grange, DK; Filie, J; Yeowell, HN
      A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene

      MOLECULAR GENETICS AND METABOLISM
    25. Beck, S; Penque, D; Garcia, S; Gomes, A; Farinha, C; Mata, L; Gulbenkian, S; Gil-Ferreira, K; Duarte, A; Pacheco, P; Barreto, C; Lopes, B; Cavaco, J; Lavinha, J; Amaral, MD
      Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

      HUMAN MUTATION
    26. Maillet, P; Dalla Venezia, N; Lorenzo, F; Moriniere, M; Bozon, M; Noel, B; Delaunay, J; Baklouti, F
      A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon

      HUMAN MUTATION
    27. Gardella, R; Zoppi, N; Ferraboli, S; Marini, D; Tadini, G; Barlati, S; Colombi, M
      Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

      HUMAN MUTATION
    28. Rodningen, OK; Tonstad, S; Saugstad, OD; Ose, L; Leren, TP
      Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

      HUMAN MUTATION
    29. Panchal, RG; Wang, SM; McDermott, J; Link, CJ
      Partial functional correction of Xeroderma pigmentosum group A cells by suppressor tRNA

      HUMAN GENE THERAPY
    30. Chang, ACY; Sohlberg, B; Trinkle-Mulcahy, L; Claverie-Martin, F; Cohen, P; Cohen, SN
      Alternative splicing regulates the production of ARD-1 endoribonuclease and NIPP-1, an inhibitor of protein phosphatase-1, as isoforms encoded by thesame gene

      GENE
    31. Osborn, MJ; Upadhyaya, M
      Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations

      HUMAN GENETICS
    32. Coughlan, TC; Blagg, JL; Abulola, M; Daly, ME; Hampton, KK; Makris, M; Peake, IR; Goodeve, AC
      Null alleles are not a common cause of type 1 von Willebrand disease in the British population

      THROMBOSIS AND HAEMOSTASIS
    33. Gersappe, A; Pintel, DJ
      A premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent manner

      MOLECULAR AND CELLULAR BIOLOGY
    34. Jean, JC; Harding, CO; Oakes, SM; Yu, Q; Held, PK; Joyce-Brady, M
      gamma-Glutamyl transferase (GGT) deficiency in the GGT(enu1) mouse resultsfrom a single point mutation that leads to a stop codon in the first coding exon of GGT mRNA

      MUTAGENESIS
    35. Lin, X; Choi, JH; Lynch, P; Xi, LX; Wu, E; Frazier, ML
      Reduction in hMSH2 mRNA levels by premature translation termination - Implications for mutation screening in hereditary nonpolyposis colorectal cancer

      DIGESTIVE DISEASES AND SCIENCES
    36. Veniant, MM; Kim, E; McCormick, S; Boren, J; Nielsen, LB; Raabe, M; Young, SG
      Insights into apolipoprotein B biology from transgenic and gene-targeted mice

      JOURNAL OF NUTRITION
    37. Burch, AD; Ta, J; Fane, BA
      Cross-functional analysis of the Microviridae internal scaffolding protein

      JOURNAL OF MOLECULAR BIOLOGY
    38. McGrath, JA; Ashton, GHS; Mellerio, JE; Salas-Alanis, JC; Swensson, O; McMillan, JR; Eady, RAJ
      Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-senseor frameshift mutations

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    39. Noe, V; Ciudad, CJ; Chasin, LA
      Effect of differential polyadenylation and cell growth phase on dihydrofolate reductase mRNA stability

      JOURNAL OF BIOLOGICAL CHEMISTRY
    40. Gersappe, A; Burger, L; Pintel, DJ
      A premature termination codon in either exon of minute virus of mice P4 promoter-generated pre-mRNA can inhibit nuclear splicing of the intervening intron in an open reading frame-dependent manner

      JOURNAL OF BIOLOGICAL CHEMISTRY
    41. Mangiarotti, G
      Coupling of transcription and translation in Dictyostelium discoideum nuclei

      BIOCHEMISTRY
    42. Teraoka, SN; Telatar, M; Becker-Catania, S; Liang, T; Onengut, S; Tolun, A; Chessa, L; Sanal, O; Bernatowska, E; Gatti, RA; Concannon, P
      Splicing defects in the ataxia-telangiectasia gene, ATM: Underlying mutations and consequences

      AMERICAN JOURNAL OF HUMAN GENETICS
    43. Ozkara, HA; Navon, R
      At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population

      MOLECULAR GENETICS AND METABOLISM
    44. GISMONDI V; STAGNARO P; PEDEMONTE S; BITICCHI R; PRESCIUTTINI S; GRAMMATICO P; SALA P; BERTARIO L; GRODEN J; VARESCO L
      CHAIN-TERMINATING MUTATIONS IN THE APC GENE LEAD TO ALTERATIONS IN APC RNA AND PROTEIN-CONCENTRATION

      Genes, chromosomes & cancer
    45. WINOKUR ST; SHIANG R
      THE TREACHER-COLLINS-SYNDROME (TCOF1) GENE-PRODUCT, TREACLE, IS TARGETED TO THE NUCLEOLUS BY SIGNALS IN ITS C-TERMINUS

      Human molecular genetics (Print)
    46. YATUV R; ROSENBERG N; DARDIK R; BRENNER B; SELIGSOHN U
      GLANZMANN THROMBASTHENIA IN 2 IRAQI-JEWISH SIBLINGS IS CAUSED BY A NOVEL SPLICE JUNCTION MUTATION IN THE GLYCOPROTEIN IIB

      Blood coagulation & fibrinolysis
    47. XU ZD; GUPTA V; LEI DC; HOLMES A; CARLSON EJ; GRUENERT DC
      IN-FRAME ELIMINATION OF EXON 10 IN CFTR(TM1UNC) CF MICE

      Gene
    48. OHNO K; ANLAR B; OZDIRIM E; BRENGMAN JM; DEBLEECKER JL; ENGEL AG
      MYASTHENIC SYNDROMES IN TURKISH KINSHIPS DUE TO MUTATIONS IN THE ACETYLCHOLINE-RECEPTOR

      Annals of neurology
    49. HAYETTE S; CARRE G; BOZON M; ALLOISIO N; MAILLET P; WILMOTTE R; PASCAL O; REYNAUD J; REMAN O; STEPHAN JL; MORLE L; DELAUNAY J
      2 DISTINCT TRUNCATED VARIANTS OF ANKYRIN ASSOCIATED WITH HEREDITARY SPHEROCYTOSIS

      American journal of hematology
    50. EIKENBOOM JCJ; CASTAMAN G; VOS HL; BERTINA RM; RODEGHIERO F
      CHARACTERIZATION OF THE GENETIC-DEFECTS IN RECESSIVE TYPE-1 AND TYPE-3 VON-WILLEBRAND-DISEASE PATIENTS OF ITALIAN ORIGIN

      Thrombosis and haemostasis
    51. PARK HJ; RAJBHANDARY UL
      TETRACYCLINE-REGULATED SUPPRESSION OF AMBER CODONS IN MAMMALIAN-CELLS

      Molecular and cellular biology
    52. RUIZECHEVARRIA MJ; GONZALEZ CI; PELTZ SW
      IDENTIFYING THE RIGHT STOP - DETERMINING HOW THE SURVEILLANCE COMPLEXRECOGNIZES AND DEGRADES AN ABERRANT MESSENGER-RNA

      EMBO journal
    53. Lund, E; Dahlberg, JE
      Proofreading and aminoacylation of tRNAs before export from the nucleus

      SCIENCE
    54. HUANG W; FLINT SJ
      THE TRIPARTITE LEADER SEQUENCE OF SUBGROUP-C ADENOVIRUS MAJOR LATE MESSENGER-RNA CAN INCREASE THE EFFICIENCY OF MESSENGER-RNA EXPORT

      Journal of virology
    55. KIM E; YOUNG SG
      GENETICALLY-MODIFIED MICE FOR THE STUDY OF APOLIPOPROTEIN-B

      Journal of lipid research
    56. KOJIMA T; HORIUCHI T; NISHIZAKA H; FUKUMORI Y; AMANO T; NAGASAWA K; NIHO Y; HAYASHI K
      GENETIC-BASIS OF HUMAN-COMPLEMENT C8-ALPHA-GAMMA DEFICIENCY

      The Journal of immunology (1950)
    57. HORIUCHI T; NISHIZAKA H; KOJIMA T; SAWABE T; NIHO Y; SCHNEIDER PM; INABA S; SAKAI K; HAYASHI K; HASHIMURA C; FUKUMORI Y
      A NONSENSE MUTATION AT ARG(95) IS PREDOMINANT IN COMPLEMENT-9 DEFICIENCY IN JAPANESE

      The Journal of immunology
    58. KIM E; CHAM CM; VENIANT MM; AMBROZIAK P; YOUNG SG
      DUAL MECHANISMS FOR THE LOW PLASMA-LEVELS OF TRUNCATED APOLIPOPROTEIN-B PROTEINS IN FAMILIAL HYPOBETALIPOPROTEINEMIA - ANALYSIS OF A NEW MOUSE MODEL WITH A NONSENSE MUTATION IN THE APO-B GENE

      The Journal of clinical investigation
    59. WANG X; CIRCOLO A; LOKKI ML; SHACKELFORD PG; WETSEL RA; COLTEN HR
      MOLECULAR HETEROGENEITY IN DEFICIENCY OF COMPLEMENT PROTEIN C2 TYPE-I

      Immunology
    60. GIBSON MA; ELLIS SL; ADES LC; HAAN E; CLEARY EG
      PREFERENTIAL PRE-MESSENGER-RNA UTILIZATION OF AN UPSTREAM CRYPTIC 5'-SPLICE-SITE CREATED BY A SINGLE-BASE DELETION MUTATION IN EXON-37 OF THE FBN-1 GENE

      European journal of biochemistry
    61. TUFARELLI C; FUJIWARA Y; ZAPPULLA DC; NEUFELD EJ
      HAIR DEFECTS AND PUP LOSS IN MICE WITH TARGETED DELETION OF THE FIRSTCUT REPEAT DOMAIN OF THE CUX CDP HOMEOPROTEIN GENE/

      Developmental biology (Print)
    62. MAZURIER C; RIBBA AS; GAUCHER C; MEYER D
      MOLECULAR-GENETICS OF VONWILLEBRAND-DISEASE

      Annales de genetique
    63. HOFFMEYER S; NURNBERG P; RITTER H; FAHSOLD R; LEISTNER W; KAUFMANN D; KRONE W
      NEARBY STOP CODONS IN EXONS OF THE NEUROFIBROMATOSIS TYPE-1 GENE ARE DISPARATE SPLICE EFFECTORS

      American journal of human genetics
    64. MOORE RC; MELTON DW
      TRANSGENIC ANALYSIS OF PRION DISEASES

      Molecular human reproduction
    65. WALKER LC; VENGLARIK CJ; AUBIN G; WEATHERLY MR; MCCARTY NA; LESNICK B; RUIZ F; CLANCY JP; SORSCHER EJ
      RELATIONSHIP BETWEEN AIRWAY ION-TRANSPORT AND A MILD PULMONARY-DISEASE MUTATION IN CFTR

      American journal of respiratory and critical care medicine
    66. VORECHOVSKY I; LUO LP; HERTZ JM; FROLAND SS; KLEMOLA T; FIORINI M; QUINTI I; PAGANELLI R; OZSAHIN H; HAMMARSTROM L; WEBSTER ADB; SMITH CIE
      MUTATION PATTERN IN BRUTON TYROSINE KINASE GENE IN 26 UNRELATED PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA

      Human mutation
    67. WANG M; WANG JY; CISLER J; IMAIZUMI K; BURTON BK; JONES MC; LAMBERTI JJ; GODFREY M
      3 NOVEL FIBRILLIN MUTATIONS IN EXON-25 AND EXON-27 - CLASSIC VERSUS NEONATAL MARFAN-SYNDROME

      Human mutation
    68. KERSTETTER RA; LAUDENCIACHINGCUANCO D; SMITH LG; HAKE S
      LOSS-OF-FUNCTION MUTATIONS IN THE MAIZE HOMEOBOX GENE, KNOTTED1, ARE DEFECTIVE IN SHOOT MERISTEM MAINTENANCE

      Development
    69. CUNNINGHAM CW; JENG K; HUSTI J; BADGETT M; MOLINEUX IJ; HILLIS DM; BULL JJ
      PARALLEL MOLECULAR EVOLUTION OF DELETIONS AND NONSENSE MUTATIONS IN BACTERIOPHAGE-T7

      Molecular biology and evolution
    70. MORLE L; BOZON M; ALLOISIO N; VALLIER A; HAYETTE S; PASCAL O; MONIER D; PHILIPPE N; FORGET BG; DELAUNAY J
      ANKYRIN BUGEY - A DE-NOVO DELETIONAL FRAMESHIFT VARIANT IN EXON-6 OF THE ANKYRIN GENE ASSOCIATED WITH SPHEROCYTOSIS

      American journal of hematology
    71. SI ZH; AMENDT BA; STOLTZFUS CM
      SPLICING EFFICIENCY OF HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 TAT RNA ISDETERMINED BY BOTH A SUBOPTIMAL 3'-SPLICE-SITE AND A 10-NUCLEOTIDE EXON SPLICING SILENCER ELEMENT LOCATED WITHIN TAT EXON-2

      Nucleic acids research
    72. PHILLIPS EN; GEBOW D; LIBER HL
      SPECTRA OF X-RAY-INDUCED AND SPONTANEOUS INTRAGENIC HPRT MUTATIONS INCLOSELY-RELATED HUMAN-CELLS DIFFERENTIALLY EXPRESSING THE P53 TUMOR-SUPPRESSOR GENE

      Radiation research
    73. RODENHISER DI; ANDREWS JD; MANCINI DN; JUNG JH; SINGH SM
      HOMONUCLEOTIDE TRACTS, SHORT REPEATS AND CPG CPNPG MOTIFS ARE FREQUENT SITES FOR HETEROGENEOUS MUTATIONS IN THE NEUROFIBROMATOSIS TYPE-1 (NF1) TUMOR-SUPPRESSOR GENE/

      Mutation research
    74. LI K; ZHANG J; BUVOLI M; YAN XD; LEINWAND L; HE H
      OCHRE SUPPRESSOR TRANSFER-RNA RESTORED DYSTROPHIN EXPRESSION IN MDX MICE

      Life sciences
    75. MELLERIO JE; DUNNILL MGS; ALLISON W; ASHTON GHS; CHRISTIANO AM; UITTO J; EADY RAJ; MCGRATH JA
      RECURRENT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

      Journal of investigative dermatology
    76. MAGOR KE; TAYLOR EJ; SHEN SY; MARTINEZNAVES E; VALIANTE NM; WELLS RS; GUMPERZ JE; ADAMS EJ; LITTLE AM; WILLIAMS F; MIDDLETON D; GAO XJ; MCCLUSKEY J; PARHAM P; LIENERTWEIDENBACH K
      NATURAL INACTIVATION OF A COMMON HLA ALLELE (A-ASTERISK-2402) HAS OCCURRED ON AT LEAST 3 SEPARATE OCCASIONS

      The Journal of immunology
    77. LINZ B; KOLOTEVA N; VASILESCU S; MCCARTHY JEG
      DISRUPTION OF RIBOSOMAL SCANNING ON THE 5'-UNTRANSLATED REGION, AND NOT RESTRICTION OF TRANSLATIONAL INITIATION PER SE, MODULATES THE STABILITY OF NONABERRANT MESSENGER-RNAS IN THE YEAST SACCHAROMYCES-CEREVISIAE

      The Journal of biological chemistry
    78. DEWEERS M; DINGJAN GM; BROUNS GS; KRAAKMAN MEM; MENSINK RGJ; LOVERING RC; SCHUURMAN RKB; BORST J; HENDRIKS RW
      EXPRESSION OF BRUTON TYROSINE KINASE IN B-LYMPHOBLASTOID CELL-LINES FROM X-LINKED AGAMMAGLOBULINEMIA PATIENTS

      Clinical and experimental immunology
    79. NISHIMURA J; INOUE N; WADA H; UEDA E; PRAMOONJAGO P; HIROTA T; MACHII T; KAGEYAMA T; KANAMARU A; TAKEDA J; KINOSHITA T; KITANI T
      A PATIENT WITH PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA BEARING 4 INDEPENDENT PIG-A MUTANT CLONES

      Blood
    80. JIANG W; TILLEKERATNE MPM; BRATTAIN MG; BANERJI SS
      DECREASED STABILITY OF TRANSFORMING-GROWTH-FACTOR-BETA TYPE-II RECEPTOR MESSENGER-RNA IN RER-CARCINOMA CELLS( HUMAN COLON)

      Biochemistry
    81. HOVNANIAN A; ROCHAT A; BODEMER C; PETIT E; RIVERS CA; PROST C; FRAITAG S; CHRISTIANO AM; UITTO J; LATHROP M; BARRANDON Y; DEPROST Y
      CHARACTERIZATION OF 18 NEW MUTATIONS IN COL7A1 IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA PROVIDES EVIDENCE FOR DISTINCT MOLECULAR MECHANISMS UNDERLYING DEFECTIVE ANCHORING FIBRIL FORMATION

      American journal of human genetics
    82. MACEK M; MACKOVA A; HAMOSH A; HILMAN BC; SELDEN RF; LUCOTTE G; FRIEDMAN KJ; KNOWLES MR; ROSENSTEIN BJ; CUTTING GR
      IDENTIFICATION OF COMMON CYSTIC-FIBROSIS MUTATIONS IN AFRICAN-AMERICANS WITH CYSTIC-FIBROSIS INCREASES THE DETECTION RATE TO 75-PERCENT

      American journal of human genetics
    83. EDWARDS SJ; GLADWIN AJ; DIXON MJ
      THE MUTATIONAL SPECTRUM IN TREACHER-COLLINS-SYNDROME REVEALS A PREDOMINANCE OF MUTATIONS THAT CREATE A PREMATURE-TERMINATION CODON

      American journal of human genetics
    84. HE F; BROWN AH; JACOBSON A
      INTERACTION BETWEEN NMD2P AND UPF1P IS REQUIRED FOR ACTIVITY BUT NOT FOR DOMINANT-NEGATIVE INHIBITION OF THE NONSENSE-MEDIATED MESSENGER-RNA DECAY PATHWAY IN YEAST

      RNA
    85. PATRIA SY; ALIMSARDJONO H; NISHIO H; TAKESHIMA Y; NAKAMURA H; MATSUO M
      A CASE OF BECKER MUSCULAR-DYSTROPHY RESULTING FROM THE SKIPPING OF 4 CONTIGUOUS EXONS (71-74) OF THE DYSTROPHIN GENE DURING MESSENGER-RNA MATURATION

      Proceedings of the Association of American Physicians
    86. BEDWELL DM; HOWARD M; FRIZZELL RA
      NONSTOP TREATMENT OF CYSTIC-FIBROSIS - REPLY

      Nature medicine
    87. KALER SG; DAS S; LEVINSON B; GOLDSTEIN DS; HOLMES CS; PATRONAS NJ; PACKMAN S; GAHL WA
      SUCCESSFUL EARLY COPPER THERAPY IN MENKES DISEASE-ASSOCIATED WITH A MUTANT TRANSCRIPT CONTAINING A SMALL IN-FRAME DELETION

      Biochemical and molecular medicine
    88. DUARTE A; AMARAL M; BARRETO C; PACHECO P; LAVINHA J
      COMPLEX CYSTIC-FIBROSIS ALLELE R334W-R1158X RESULTS IN REDUCED LEVELSOF CORRECTLY PROCESSED MESSENGER-RNA IN A PANCREATIC SUFFICIENT PATIENT

      Human mutation
    89. BIENVENU T; BELDJORD C; CHELLY J; FONKNECHTEN N; HUBERT D; DUSSER D; KAPLAN JC
      ANALYSIS OF ALTERNATIVE SPLICING PATTERNS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE USING MESSENGER-RNA DERIVED FROM LYMPHOBLASTOID-CELLS OF CYSTIC-FIBROSIS PATIENTS

      European journal of human genetics
    90. GLADWIN AJ; DIXON J; LOFTUS SK; EDWARDS S; WASMUTH JJ; HENNEKAM RCM; DIXON MJ
      TREACHER-COLLINS-SYNDROME MAY RESULT FROM INSERTIONS, DELETIONS OR SPLICING MUTATIONS, WHICH INTRODUCE A TERMINATION CODON INTO THE GENE

      Human molecular genetics
    91. MAZURIER C; MEYER D
      MOLECULAR-BASIS OF VON-WILLEBRAND DISEASE

      Bailliere's clinical haematology
    92. TURCO AE; ROSSETTI S; BRESIN E; CORRA S; RESTAGNO G; CARBONARA A; DEPRISCO O; GAMMARO L; MASCHIO G; PIGNATTI PF
      DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    93. ZWARTHOFF EC
      NEUROFIBROMATOSIS AND ASSOCIATED TUMOR-SUPPRESSOR GENES

      Pathology research and practice
    94. DRABKIN HJ; PARK HJ; RAJBHANDARY UL
      AMBER SUPPRESSION IN MAMMALIAN-CELLS DEPENDENT UPON EXPRESSION OF AN ESCHERICHIA-COLI AMINOACYL-TRANSFER-RNA SYNTHETASE GENE

      Molecular and cellular biology
    95. BASTLOVA T; PODLUTSKY A
      MOLECULAR ANALYSIS OF STYRENE OXIDE-INDUCED HPRT MUTATION IN HUMAN T-LYMPHOCYTES

      Mutagenesis
    96. HORN D; ROBINSON PN; BODDRICH A; BUSKE A; TINSCHERT S; NURNBERG P
      3 NOVEL MUTATIONS OF THE NF1 GENE DETECTED BY TEMPERATURE-GRADIENT GEL-ELECTROPHORESIS OF EXON-5 AND EXON-8

      Electrophoresis
    97. LI JM; TIMKO MP
      THE PC-1 PHENOTYPE OF CHLAMYDOMONAS-REINHARDTII RESULTS FROM A DELETION MUTATION IN THE NUCLEAR GENE FOR NADPH-PROTOCHLOROPHYLLIDE OXIDOREDUCTASE

      Plant molecular biology
    98. UPADHYAYA M; OSBORN M; MAYNARD J; HARPER P
      CHARACTERIZATION OF 6 MUTATIONS IN EXON-37 OF NEUROFIBROMATOSIS TYPE-1 GENE

      American journal of medical genetics
    99. ROSSETTI S; BRESIN E; RESTAGNO G; CARBONARA A; CORRA S; DEPRISCO O; PIGNATTI PF; TURCO AE
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AN ITALIAN FAMILY CARRYING A NOVEL NONSENSE MUTATION AND 2 MISSENSE CHANGES IN EXON-44 AND EXON-45 OF THE PKD1 GENE

      American journal of medical genetics
    100. CAPONIGRO G; PARKER R
      MECHANISMS AND CONTROL OF MESSENGER-RNA TURNOVER IN SACCHAROMYCES-CEREVISIAE

      Microbiological reviews


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/08/20 alle ore 11:40:55