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Molecular Medicine Reports
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Print ISSN: 1791-2997 Online ISSN: 1791-3004
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March-April 2009 Volume 2 Issue 2

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Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

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Article

Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?

  • Authors:
    • Raquel María Fernández
    • Avencia Sánchez-Mejías
    • Maria Macarena Ruiz-Ferrer
    • Manuel López-Alonso
    • Guillermo Antiñolo
    • Salud Borrego

  • View Affiliations / Copyright

    Affiliations: Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospitales Universitarios Virgen del Rocío, 41013 Seville, Spain
  • Pages: 265-270
    |
    Published online on: March 1, 2009
       https://doi.org/10.3892/mmr_00000094
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Abstract

Hirschsprung disease (HSCR) is defined by the absence of intramural ganglia of Meissner and Auerbach along variable lengths of the gastrointestinal tract. Intestinal neuronal dysplasia (IND) type B is characterized by the malformation of the parasympathetic submucous plexus of the gut. A connection appears to exist between these two enteric nervous system abnormalities. Due to the major role played by the RET proto-oncogene in HSCR, we sought to determine whether this gene was also related to INDB. dHPLC techniques were employed to screen the RET coding region in 23 patients presenting with INDB and 30 patients with a combined HSCR+INDB phenotype. In addition, eight RET single nucleotide polymorphisms (SNPs) were strategically selected and genotyped by TaqMan technology. The distribution of SNPs and haplotypes was compared among the different groups of patients (INDB, HSCR+INDB, HSCR) and the controls. We found several RET mutations in our patients and some differences in the distribution of the RET SNPs among the groups of study. Our results suggest an involvement of RET in the pathogenesis of intestinal INDB, although by different molecular mechanisms than those leading to HSCR. Further investigation is warranted to elucidate these precise mechanisms and to clarify the genetic nature of INDB.

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Copy and paste a formatted citation
Spandidos Publications style
Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer MM, López-Alonso M, Antiñolo G and Borrego S: Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?. Mol Med Rep 2: 265-270, 2009.
APA
Fernández, R.M., Sánchez-Mejías, A., Ruiz-Ferrer, M.M., López-Alonso, M., Antiñolo, G., & Borrego, S. (2009). Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?. Molecular Medicine Reports, 2, 265-270. https://doi.org/10.3892/mmr_00000094
MLA
Fernández, R. M., Sánchez-Mejías, A., Ruiz-Ferrer, M. M., López-Alonso, M., Antiñolo, G., Borrego, S."Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?". Molecular Medicine Reports 2.2 (2009): 265-270.
Chicago
Fernández, R. M., Sánchez-Mejías, A., Ruiz-Ferrer, M. M., López-Alonso, M., Antiñolo, G., Borrego, S."Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?". Molecular Medicine Reports 2, no. 2 (2009): 265-270. https://doi.org/10.3892/mmr_00000094
Copy and paste a formatted citation
x
Spandidos Publications style
Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer MM, López-Alonso M, Antiñolo G and Borrego S: Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?. Mol Med Rep 2: 265-270, 2009.
APA
Fernández, R.M., Sánchez-Mejías, A., Ruiz-Ferrer, M.M., López-Alonso, M., Antiñolo, G., & Borrego, S. (2009). Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?. Molecular Medicine Reports, 2, 265-270. https://doi.org/10.3892/mmr_00000094
MLA
Fernández, R. M., Sánchez-Mejías, A., Ruiz-Ferrer, M. M., López-Alonso, M., Antiñolo, G., Borrego, S."Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?". Molecular Medicine Reports 2.2 (2009): 265-270.
Chicago
Fernández, R. M., Sánchez-Mejías, A., Ruiz-Ferrer, M. M., López-Alonso, M., Antiñolo, G., Borrego, S."Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?". Molecular Medicine Reports 2, no. 2 (2009): 265-270. https://doi.org/10.3892/mmr_00000094
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