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Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

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Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family. / Pinheiro, Ana; Silva, Maria João; Pavlu-Pereira, Hana; Florindo, Cristina; Barroso, Madalena; Marques, Bárbara; Correia, Hildeberto; Oliveira, Anabela; Gaspar, Ana; Tavares de Almeida, Isabel; Rivera, Isabel.

in: DATA BRIEF, Jahrgang 9, 12.2016, S. 68-77.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Pinheiro, A, Silva, MJ, Pavlu-Pereira, H, Florindo, C, Barroso, M, Marques, B, Correia, H, Oliveira, A, Gaspar, A, Tavares de Almeida, I & Rivera, I 2016, 'Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family', DATA BRIEF, Jg. 9, S. 68-77. https://doi.org/10.1016/j.dib.2016.08.029

APA

Pinheiro, A., Silva, M. J., Pavlu-Pereira, H., Florindo, C., Barroso, M., Marques, B., Correia, H., Oliveira, A., Gaspar, A., Tavares de Almeida, I., & Rivera, I. (2016). Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family. DATA BRIEF, 9, 68-77. https://doi.org/10.1016/j.dib.2016.08.029

Vancouver

Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B et al. Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family. DATA BRIEF. 2016 Dez;9:68-77. https://doi.org/10.1016/j.dib.2016.08.029

Bibtex

@article{5efa02e85755422dae72d8536fe7fe0f,
title = "Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family",
abstract = "This article presents a dataset proving the simultaneous presence of a 5'UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We have designed a large set of primer pairs in order to perform detailed RT-PCR assays allowing the clear identification of both PDHA1 and PDHA2 mRNA species in somatic cells. In addition, two different experimental approaches were used to elucidate the copy number of PDHA1 gene in the patient and her mother. The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in {"}Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells{"} (A. Pinheiro, M.J. Silva, C. Florindo, et al., 2016) [1].",
keywords = "Journal Article",
author = "Ana Pinheiro and Silva, {Maria Jo{\~a}o} and Hana Pavlu-Pereira and Cristina Florindo and Madalena Barroso and B{\'a}rbara Marques and Hildeberto Correia and Anabela Oliveira and Ana Gaspar and {Tavares de Almeida}, Isabel and Isabel Rivera",
year = "2016",
month = dec,
doi = "10.1016/j.dib.2016.08.029",
language = "English",
volume = "9",
pages = "68--77",
journal = "DATA BRIEF",
issn = "2352-3409",
publisher = "Elsevier BV",

}

RIS

TY - JOUR

T1 - Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

AU - Pinheiro, Ana

AU - Silva, Maria João

AU - Pavlu-Pereira, Hana

AU - Florindo, Cristina

AU - Barroso, Madalena

AU - Marques, Bárbara

AU - Correia, Hildeberto

AU - Oliveira, Anabela

AU - Gaspar, Ana

AU - Tavares de Almeida, Isabel

AU - Rivera, Isabel

PY - 2016/12

Y1 - 2016/12

N2 - This article presents a dataset proving the simultaneous presence of a 5'UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We have designed a large set of primer pairs in order to perform detailed RT-PCR assays allowing the clear identification of both PDHA1 and PDHA2 mRNA species in somatic cells. In addition, two different experimental approaches were used to elucidate the copy number of PDHA1 gene in the patient and her mother. The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in "Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells" (A. Pinheiro, M.J. Silva, C. Florindo, et al., 2016) [1].

AB - This article presents a dataset proving the simultaneous presence of a 5'UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We have designed a large set of primer pairs in order to perform detailed RT-PCR assays allowing the clear identification of both PDHA1 and PDHA2 mRNA species in somatic cells. In addition, two different experimental approaches were used to elucidate the copy number of PDHA1 gene in the patient and her mother. The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in "Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells" (A. Pinheiro, M.J. Silva, C. Florindo, et al., 2016) [1].

KW - Journal Article

U2 - 10.1016/j.dib.2016.08.029

DO - 10.1016/j.dib.2016.08.029

M3 - SCORING: Journal article

C2 - 27656664

VL - 9

SP - 68

EP - 77

JO - DATA BRIEF

JF - DATA BRIEF

SN - 2352-3409

ER -