BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 37167752)

  • 1. Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene.
    Christensen C; Heckman P; Rha A; Kan SH; Harb J; Wang R
    Stem Cell Res; 2023 Jun; 69():103117. PubMed ID: 37167752
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease.
    Huang W; Zhou Y; Wang J; Jiang C; Zhang Y; Zhou R
    Stem Cell Res; 2022 Oct; 64():102934. PubMed ID: 36240644
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC; Kroos MA; de Vries JM; Hoogeveen-Westerveld M; Wijgerde MG; van Doorn PA; van der Ploeg AT; Reuser AJ
    Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.
    Zhang Y; Li A; Wang J; Wang G; Wang D
    Stem Cell Res; 2019 Dec; 41():101621. PubMed ID: 31743840
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene.
    Cheng YS; Li R; Baskfield A; Beers J; Zou J; Liu C; Zheng W
    Stem Cell Res; 2019 May; 37():101435. PubMed ID: 31026687
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
    Sniderman King L; Pan Y; Nallamilli BRR; Hegde M; Jagannathan L; Ramachander V; Lucas A; Markind J; Colzani R
    Mol Genet Metab; 2023 May; 139(1):107565. PubMed ID: 37087815
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ
    Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel GAA mutations in patients with Pompe disease.
    Turaça LT; de Faria DO; Kyosen SO; Teixeira VD; Motta FL; Pessoa JG; Rodrigues E Silva M; de Almeida SS; D'Almeida V; Munoz Rojas MV; Martins AM; Pesquero JB
    Gene; 2015 Apr; 561(1):124-31. PubMed ID: 25681614
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.
    Amiñoso C; Gordillo-Marañón M; Hernández J; Solera J
    Neuromuscul Disord; 2019 Mar; 29(3):187-191. PubMed ID: 30770309
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The genotype-phenotype correlation in Pompe disease.
    Kroos M; Hoogeveen-Westerveld M; van der Ploeg A; Reuser AJ
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):59-68. PubMed ID: 22253258
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
    Oba-Shinjo SM; da Silva R; Andrade FG; Palmer RE; Pomponio RJ; Ciociola KM; S Carvalho M; Gutierrez PS; Porta G; Marrone CD; Munoz V; Grzesiuk AK; Llerena JC; Berditchevsky CR; Sobreira C; Horovitz D; Hatem TP; Frota ER; Pecchini R; Kouyoumdjian JA; Werneck L; Amado VM; Camelo JS; Mattaliano RJ; Marie SK
    J Neurol; 2009 Nov; 256(11):1881-90. PubMed ID: 19588081
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential.
    Huang HP; Chiang W; Stone L; Kang CK; Chuang CY; Kuo HC
    Hum Mol Genet; 2019 Dec; 28(23):3880-3894. PubMed ID: 31518394
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
    Momosaki K; Kido J; Yoshida S; Sugawara K; Miyamoto T; Inoue T; Okumiya T; Matsumoto S; Endo F; Hirose S; Nakamura K
    J Hum Genet; 2019 Aug; 64(8):741-755. PubMed ID: 31076647
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.
    Amiñoso C; Solera J
    Gene; 2022 Jan; 808():145967. PubMed ID: 34530085
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.
    Su X; Sheng H; Huang Y; Li X; Zhang W; Zhao X; Li C; Liu L
    Eur J Med Genet; 2020 Dec; 63(12):103997. PubMed ID: 32711049
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotypic implications of pathogenic variant types in Pompe disease.
    Viamonte MA; Filipp SL; Zaidi Z; Gurka MJ; Byrne BJ; Kang PB
    J Hum Genet; 2021 Nov; 66(11):1089-1099. PubMed ID: 33972680
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
    Alila-Fersi O; Aloulou H; Werteni I; Mahfoudh N; Chabchoub I; Kammoun H; Keskes L; Hachicha M; Belguith N; Fakhfakh F
    J Mol Neurosci; 2020 Jul; 70(7):1100-1109. PubMed ID: 32125626
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
    Ngiwsara L; Wattanasirichaigoon D; Tim-Aroon T; Rojnueangnit K; Noojaroen S; Khongkraparn A; Sawangareetrakul P; Ketudat-Cairns JR; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Svasti J
    BMC Med Genet; 2019 Sep; 20(1):156. PubMed ID: 31510962
    [TBL] [Abstract][Full Text] [Related]  

  • 19. First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
    Torrealba-Acosta G; Rodríguez-Roblero MC; Bogantes-Ledezma S; Carazo-Céspedes K; Desnuelle C
    Neuromuscul Disord; 2017 Oct; 27(10):951-955. PubMed ID: 28694071
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
    Herzog A; Hartung R; Reuser AJ; Hermanns P; Runz H; Karabul N; Gökce S; Pohlenz J; Kampmann C; Lampe C; Beck M; Mengel E
    Orphanet J Rare Dis; 2012 Jun; 7():35. PubMed ID: 22676651
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.