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| Yamamoto, Pedro Kenzo; Oliveira, Nicássia Sousa; Marcondes, Geissiane de Moraes; Manes, Marianna; Gomes, Mariana de Souza Aranha Garcia; Bernardi, Maria Martha; Souza, Tiago Antônio de; Massironi, Sílvia Maria Gomes; Mori, Claudia Madalena Cabrera. |
| The recessive mutant mouse named bate-palmas (bapa) – claps in Portuguese, originates from an ENU (N-ethyl-N-nitrosourea) mutagenesis program, presenting balance impairment and motor incoordination. Exome sequencing identified a mutation in the KMT2D gene, located on chromosome 15, which was confirmed by DNA sequence by the Sanger method. The loss of function of the gene KMT2D, located on chromosome 12 in humans, was described as being responsible for Kabuki syndrome, also known as Niikawa-Koruki syndrome, which is a rare congenital anomaly, autosomal dominant. The clinical phenotype of the disease is variable, but some common characteristics are dysmorphic facial features, skeletal abnormalities, fingerprint alterations, mild to moderate cognitive... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: ENU mutagenesis; Mutant mouse; Kmt2d gene; Kabuki syndrome ENU mutagênese; Camundongo mutante; Gene Kmt2d; Síndrome de Kabuki. |
| Ano: 2018 |
URL: http://www.revistamvez-crmvsp.com.br/index.php/recmvz/article/view/37709 |
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| Oliveira, Nicássia de Sousa; Garcia Gomes, Mariana de Souza Aranha; Manes, Marianna; Bernardi, Maria Martha; Massironi, Silvia Maria Gomes; Mori, Claudia Madalena Cabrera. |
| O camundongo de laboratório é amplamente utilizado como modelo animal na investigação de componentes genéticos e celulares que são relevantes para o entendimento de processos fisiológicos e patológicos em humanos e outras espécies animais. Inúmeras mutações em diferentes regiões do genoma do camundongo causando importantes desordens neurológicas têm sido descritas. Nas últimas décadas, esses modelos têm se constituído em importantes instrumentos para o estudo de doenças neurodegenerativas, bem como para o avanço no tratamento dessas doenças. O camundongo mutante recessivo, denominado bate-palmas (bapa) que apresenta incoordenação motora, originou-se de um projeto de mutagênese química induzida por ENU, desenvolvido no Departamento de Imunologia, ICB/USP. A... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Camundongos mutantes; Síndrome de Kabuki. |
| Ano: 2016 |
URL: http://www.revistamvez-crmvsp.com.br/index.php/recmvz/article/view/31084 |
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| Yamamoto, Pedro Kenzo; Oliveira, Nicássia Sousa; Marcondes, Geissiane de Moraes; Manes, Marianna; Gomes, Mariana de Souza Aranha Garcia; Bernardi, Maria Martha; Souza, Tiago Antônio de; Massironi, Sílvia Maria Gomes; Mori, Claudia Madalena Cabrera. |
| The recessive mutant mouse named bate-palmas (bapa) – claps in Portuguese, originates from an ENU (N-ethyl-N-nitrosourea) mutagenesis program, presenting balance impairment and motor incoordination. Exome sequencing identified a mutation in the KMT2D gene, located on chromosome 15, which was confirmed by DNA sequence by the Sanger method. The loss of function of the gene KMT2D, located on chromosome 12 in humans, was described as being responsible for Kabuki syndrome, also known as Niikawa-Koruki syndrome, which is a rare congenital anomaly, autosomal dominant. The clinical phenotype of the disease is variable, but some common characteristics are dysmorphic facial features, skeletal abnormalities, fingerprint alterations, mild to moderate cognitive... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2018 |
URL: http://www.revistamvez-crmvsp.com.br/index.php/recmvz/article/view/37709 |
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