These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 25179242)

  • 61. Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
    Chandler RJ; Tarasenko TN; Cusmano-Ozog K; Sun Q; Sutton VR; Venditti CP; McGuire PJ
    Gene Ther; 2013 Dec; 20(12):1188-91. PubMed ID: 24131980
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
    Hong KM; Hahn SH; Paik MK
    Hum Mutat; 2000 Jun; 15(6):585. PubMed ID: 10862106
    [No Abstract]   [Full Text] [Related]  

  • 63. Usage of cryptic splice sites in citrullinemia fibroblasts suggests role of polyadenylation in splice-site selection during terminal exon definition.
    Tsai TF; Wu MJ; Su TS
    DNA Cell Biol; 1998 Aug; 17(8):717-25. PubMed ID: 9726254
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Structure of human argininosuccinate synthetase.
    Karlberg T; Collins R; van den Berg S; Flores A; Hammarström M; Högbom M; Holmberg Schiavone L; Uppenberg J
    Acta Crystallogr D Biol Crystallogr; 2008 Mar; 64(Pt 3):279-86. PubMed ID: 18323623
    [TBL] [Abstract][Full Text] [Related]  

  • 65. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.
    Shao L; Liu L; Miao Z; Ren H; Wang W; Lang Y; Yue S; Chen N
    Am J Nephrol; 2008; 28(6):900-7. PubMed ID: 18580052
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.
    Shaheen N; Kobayashi K; Terazono H; Fukushige T; Horiuchi M; Saheki T
    Enzyme Protein; 1994-1995; 48(5-6):251-64. PubMed ID: 8792870
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.
    Ruitenbeek W; Kobayashi K; Iijima M; Smeitink JA; Engelke UF; De Abreu RA; Kwast HT; Saheki T; Boelen CA; De Jong JG; Wevers RA
    Ann Clin Biochem; 2003 Jan; 40(Pt 1):102-7. PubMed ID: 12542919
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
    Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F
    Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W; Takeshima Y; Nishiyama A; Okizuka Y; Yagi M; Tsuneishi S; Saiki K; Kugo M; Matsuo M
    Kobe J Med Sci; 2007; 53(5):229-40. PubMed ID: 18204299
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
    Trevisson E; Salviati L; Baldoin MC; Toldo I; Casarin A; Sacconi S; Cesaro L; Basso G; Burlina AB
    Hum Mutat; 2007 Jul; 28(7):694-702. PubMed ID: 17326097
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Functional identification of two novel variants and a hypomorphic variant in
    Liu J; Wang Z; Yan H; Teng Y; Shi Q; Chen J; Tang W; Yu W; Peng Y; Xi H; Ma N; Liang D; Li Z; Wu L
    Front Genet; 2023; 14():1172947. PubMed ID: 37485339
    [No Abstract]   [Full Text] [Related]  

  • 72. Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene.
    Mármol-Sánchez E; Luigi-Sierra MG; Quintanilla R; Amills M
    Anim Genet; 2020 Feb; 51(1):106-110. PubMed ID: 31729055
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Successful prospective management of neonatal citrullinemia.
    Go H; Imamura T; Hashimoto K; Ogasawara K; Sakamoto O; Takubo N; Momoi N; Hosoya M
    J Pediatr Endocrinol Metab; 2012; 25(3-4):371-3. PubMed ID: 22768672
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia.
    Su PH; Chen JY; Chen YJ; Niu DM; Hsu JH; Lee IC
    J Formos Med Assoc; 2014 Nov; 113(11):857-61. PubMed ID: 25443352
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
    Rimoldi V; Straniero L; Asselta R; Mauri L; Manfredini E; Penco S; Gesu GP; Del Longo A; Piozzi E; Soldà G; Primignani P
    Gene; 2014 Mar; 537(1):79-84. PubMed ID: 24361966
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.
    Eng L; Coutinho G; Nahas S; Yeo G; Tanouye R; Babaei M; Dörk T; Burge C; Gatti RA
    Hum Mutat; 2004 Jan; 23(1):67-76. PubMed ID: 14695534
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Isolated GH deficiency with dominant inheritance: new mutations, new insights.
    Binder G; Keller E; Mix M; Massa GG; Stokvis-Brantsma WH; Wit JM; Ranke MB
    J Clin Endocrinol Metab; 2001 Aug; 86(8):3877-81. PubMed ID: 11502827
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
    Horn D; Robinson PN; Böddrich A; Buske A; Tinschert S; Nürnberg P
    Electrophoresis; 1996 Oct; 17(10):1559-63. PubMed ID: 8957181
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Citrullinemia: quantitative deficiency of argininosuccinate synthetase in the liver.
    Oyanagi K; Itakura Y; Tsuchiyama A; Nakao T; Nakano K; Saeki T
    Tohoku J Exp Med; 1986 Apr; 148(4):385-91. PubMed ID: 3738904
    [TBL] [Abstract][Full Text] [Related]  

  • 80. High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
    Lee BH; Kim YM; Heo SH; Kim GH; Choi IH; Lee BS; Kim EA; Kim KS; Jhang WK; Park SJ; Yoo HW
    Mol Genet Metab; 2013 Jan; 108(1):18-24. PubMed ID: 23246278
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.