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	Provedor de dados Genet. Mol. Biol. (2) Autor Liu,Yunqiang (2) Lu,Yongjie (2) Liao,Shunyao (1) Liu,Shasha (1) Ma,Yongxin (1) Tao,Dachang (1) Yang,Yuan (1) Zhang,Sizhong (1) Mais... Palavra-chave ALDH1A3 (1) Anophthalmia (1) Compound heterozygous mutations (1) Exome sequence (1) Kctd14 (1) Knockout mice (1) Spermatogenesis (1) Znf230 (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2017 (1) 2014 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family Genet. Mol. Biol. Liu,Yunqiang; Lu,Yongjie; Liu,Shasha; Liao,Shunyao. Abstract Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G > A (p.(Gly237Arg)) of the ALDH1A3 gene were present in the affected newborn. Both mutations were absent in all of the searched databases, including 10,000 in-house Chinese exome sequences, and these mutations were confirmed as having been transmitted from the parents. Comparative amino acid sequence analysis across distantly related species revealed that the residues at positions 96 and 234 were evolutionarily highly conserved. In silico analysis... Tipo: Info:eu-repo/semantics/article Palavras-chave: Anophthalmia; Exome sequence; ALDH1A3; Compound heterozygous mutations. Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300430 Targeted disruption of the mouse testis-enriched gene Znf230 does not affect spermatogenesis or fertility Genet. Mol. Biol. Liu,Yunqiang; Tao,Dachang; Lu,Yongjie; Yang,Yuan; Ma,Yongxin; Zhang,Sizhong. The mouse testis-enriched Znf230 gene, which encodes a type of RING finger protein, is present primarily in the nuclei of spermatogonia, the acrosome and the tail of spermatozoa. To investigate the role of Znf230 in spermatogenesis, we generated Znf230-deficient mice by disrupting Znf230 exon-5 and exon-6 using homologous recombination. The homozygous Znf230-knockout (KO) mice did not exhibit Znf230 mRNA expression and Znf230 protein production. Znf230 KO mice exhibited no obvious impairment in body growth or fertility. Male Znf230 KO mice had integral reproductive systems and mature sperm that were regular in number and shape. The developmental stages of male germ cells of Znf230 KO mice were also normal. We further examined variations in the... Tipo: Info:eu-repo/semantics/article Palavras-chave: Znf230; Knockout mice; Spermatogenesis; Kctd14. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500014 Registros recuperados: 2 Primeira ... 1 ... Última

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