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1.
Clin Dysmorphol ; 30(2): 71-75, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-32925198

RESUMO

Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the cause of this syndrome. Congenital absence of the flexor pollicis longus (CAFPL) tendon is a rare hand anomaly. Most cases are sporadic and no genetic variants have been described associated with this abnormality. We describe here a pedigree combining familial CAFPL tendon as a feature of FGLDS1. Molecular analyses of whole exome sequence data in five affected family members spanning three generations of this family revealed a novel mutation in the MYCN gene (c.1171C>T; p.Arg391Cys). Variants in MYCN have not been published in association with isolated or syndromic CAFPL tendon, nor has this been described as a skeletal feature of Feingold syndrome. This report expands on the clinical and molecular spectrum of MYCN-related disorders and highlights the importance of MYCN protein in normal human thumb and foramen development.


Assuntos
Pálpebras/anormalidades , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Microcefalia/diagnóstico , Microcefalia/genética , Mutação , Proteína Proto-Oncogênica N-Myc/genética , Tendões/anormalidades , Polegar/anormalidades , Fístula Traqueoesofágica/diagnóstico , Fístula Traqueoesofágica/genética , Adulto , Idoso , Criança , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Proteína Proto-Oncogênica N-Myc/química , Linhagem , Fenótipo , Relação Estrutura-Atividade , Sequenciamento do Exoma
4.
J Clin Invest ; 94(2): 808-14, 1994 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-8040336

RESUMO

Although collagen is known to enhance hepatocyte differentiation and hepatocytes produce collagen in vivo, the transcriptional factors responsible for collagen type I gene expression in hepatic cells are not known. LAP (Liver Activator Protein) is a member of the C/EBP family, which in differentiated hepatocytes contributes to the high levels of liver-specific gene expression. In this study we show that LAP binds to the collagen alpha 1(I) promoter at both reverse CCAAT motifs and activates transcription. Furthermore, an upstream element, collagen element I (-370/-344), which shares homology with the LAP binding cis-element of the albumin promoter (9 of 13 bp) is described. This collagen element I stimulates transcription in both orientations and when placed in front of either a homologous or a heterologous chimeric report construct. These experiments suggest that LAP may be important in the expression of collagen in differentiated hepatocytes through both the promoter and a newly described upstream element.


Assuntos
Colágeno/genética , Proteínas de Ligação a DNA/farmacologia , Genes Reguladores , Proteínas Nucleares/farmacologia , Fatores de Transcrição/farmacologia , Ativação Transcricional , Sequência de Bases , Sítios de Ligação , Proteínas Estimuladoras de Ligação a CCAAT , DNA/metabolismo , Proteínas de Ligação a DNA/metabolismo , Elementos Facilitadores Genéticos , Humanos , Dados de Sequência Molecular , Proteínas Nucleares/metabolismo , Regiões Promotoras Genéticas , Células Tumorais Cultivadas
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