LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

De novo ALX4 variant detected in child with non-syndromic craniosynostosis

Fonteles, C S; Finnell, R H; Lei, Y; Zurita-Jimenez, M E; Monteiro, A J; George, T M; Harshbarger, R J.

Braz. j. med. biol. res; 54 (11), 2021

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occ...

Secuencia de Bases, Craneosinostosis/genética, Estudios Transversales, Proteínas de Unión al ADN/genética, Familia, Mutación Missense/genética, Factores de Transcripción/genética

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Performance of mutation pathogenicity prediction tools on missense variants associated with 46, XY differences of sex development

Montenegro, Luciana R; Lerário, Antônio M; Nishi, Miriam Y; Jorge, Alexander A L; Mendonca, Berenice B.

Clinics; 76 (), 2021

OBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of which are benign polymorphisms. Identifying rare dise...

Biología Computacional, Mutación, Mutación Missense/genética, Polimorfismo de Nucleótido Simple, Desarrollo Sexual, Virulencia

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Heterozygous HTRA1 missense mutation in CADASIL-like family disease

Wu, Xiaowei; Li, Changxin; Mao, Jinming; Li, Ling; Liu, Yan; Hou, Yao.

Braz. j. med. biol. res; 51 (5), 2018

The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related gene...

CADASIL/genética, Predisposición Genética a la Enfermedad, Genotipo, Heterocigoto, Serina Peptidasa A1 que Requiere Temperaturas Altas/genética, Reacción en Cadena de la Polimerasa Multiplex, Mutación Missense/genética, Linaje, Polimorfismo de Nucleótido Simple

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