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Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumors from TP53 R337H mutation heterozygote carriers

Article Abstract:

Studies were carried out on 46 pediatric patients with adrenocortical tumours (ACT's) from Brazil for INHA genetic alteration, out of which 39 were heterozygous carriers of R337H TP53 mutation. Sequence alternations and the detected 2q allelic changes suggested that INHA might be one of the contributing factors needed for ACT formation in pediatric patient carriers of the R337H TP53 mutation.

Author: Longui, C.A., Mendonca, B.B., Figueiredo, B., Lemos-Marini, S.H.V., Castro, M., Lancellotti, C.L.P., Watanabe, C., Liberatore, R.,Jr., Rocha, M.N., Calliari, L.E.P., Monte, O., Melo, M.B., Guerra, G., Junior., Latronico, A.C., Sbragia-Neto, L., Baptista, M.T.M., Moreira, A., Stratakis, C.A., Taymans, S.E., Nigri, A., Tardelli, A.M.D.
Publisher: British Medical Association
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
Adenoma

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Spondylo-epi-metaphyseal dysplasia(SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

Article Abstract:

A study stated that Spondylo-epi-metaphyseal dysplasia(SEMD) is caused by homozygous mutation in matrilin 3 (MATN3), a component of extra cellular matrix of cartilage. The report concludes that MATN3 is another component of the intracellular matrix involved in the SEMD group.

Author: Munnich, A., Borochowitz, Z.U., Scheffer, D., Adir, V., Cormier-Daire, V.
Publisher: British Medical Association
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
Causes of, Dysplasia

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Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1

Article Abstract:

A study was conducted on 27 patients with heterozygous changes in ZFHXIB, including mutations and chromosomal deletions of part or the entire gene. Five novel nonsense and frameshift mutations in one allele of ZFHXIB from patients with Mowat-Wilson syndrome were identified.

Author: Tanaka, K., Yamanaka, T., Miura, K., Yamada, K., Ishihara, N., Kuwabara, N., Kato, J., Hara, Y., Ohya, K., Mimaki, M., Nomura, Y., Hoshino, K, Kobayashi, Y., Matsushima, M., Ohki, T., Segawa, M., Nitta, H., Ezoe, T., Yoneda, M., Kuroda, T., Onuma, A., Kumagai, T., Wakamatsu, N., Nagaya,M., Saji, T., Saeki, M.
Publisher: British Medical Association
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004

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Subjects list: Research, Gene mutations, Gene mutation, Genetic research, Heterozygosis, Heterozygote
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