Introducción: El Síndrome Sanfilippo B es un error innato en el metabolismo lisosomal, con herencia autosómica recesiva. Se caracteriza por facie ligeramente tosca, deterioro neurológico progresivo y poca repercusión somática, provocado por mutaciones en el gen NAGLU, cuyo locus es 17q21.2. La inc...
CKB3 is a regulatory (beta) subunit of CK2. In this study Arabidopsis thaliana homozygous T-DNA mutant ckb3 was studied to understand the role of CKB3 in abscisic acid (ABA) signaling. The results shown: CKB3 was expressed in all organs and the highest expression in the seeds, followed by the root. Durin...
ABSTRACT The concomitant epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) translocations in lung adenocancers are very rare scenarios. Until now, 42 cases described in the literature have all been treated by different drugs. There is no overall consensus regarding the...
Adenocarcinoma/genética,
Neoplasias Pulmonares/genética,
Mutación/genética,
Genes erbB-1/genética,
Exones/genética,
Crizotinib/uso terapéutico,
Inhibidores de Proteínas Quinasas/uso terapéutico,
Docetaxel/uso terapéutico,
Cisplatino/uso terapéutico,
Antineoplásicos/uso terapéutico,
Neoplasias Pulmonares/tratamiento farmacológico,
Adenocarcinoma/tratamiento farmacológico
Background: Next-generation sequencing (NGS) based assay for finding an actionable driver in non-small-cell lung cancer is a less used modality in clinical practice. With a long list of actionable targets, limited tissue, arduous single-gene assays, the alternative of NGS for broad testing in one experim...
Costa-Riquetto, Aline D.;
Santana, Lucas S.;
Caetano, Lílian A.;
Lerário, Antônio M.;
Correia-Deur, Joya E. M.;
Bertola, Débora R.;
Kim, Chong A.;
Nery, Márcia;
Jorge, Alexander A. L.;
Teles, Milena G..
ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruite...
Abstract Introduction: Deafness is the most frequent sensory deficit in humans. Incidence is estimated at 4:1000 births in Brazil. Specific programs for clinical care of patients with hearing loss are still scarce in Brazil and the issue is an important public health problem. Objective: To determine th...
Introducción: La leucemia mieloide aguda (LMA) es un grupo heterogéneo de desórdenes clonales con una gran variabilidad en términos de patogénesis, características morfológicas, genéticas e inmunofenotípicas. Las mutaciones en el gen NPM1 representan una de las más comunes en las LMA y está as...
SUMMARY The EIF1AX gene mutations have been recently associated with papillary thyroid carcinoma and anaplastic thyroid cancer. According with these reports, the gene as been considered as a drive gene for thyroid cancer development. However, the occurrence of these alterations in benign thyroid lesions ...
Abstract Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making. Objectiv...
Cardiomiopatías/epidemiología,
Cardiomiopatías/etiología,
Heterocigoto,
Fuerza Muscular/genética,
Fuerza Muscular/fisiología,
Debilidad Muscular/epidemiología,
Debilidad Muscular/etiología,
Distrofias Musculares/epidemiología,
Distrofias Musculares/genética,
Distrofias Musculares/fisiopatología,
Distrofia Muscular de Duchenne/diagnóstico,
Distrofia Muscular de Duchenne/epidemiología,
Distrofia Muscular de Duchenne/genética,
Mutación/genética,
Rendimiento Físico Funcional,
Reacción en Cadena de la Polimerasa,
Prevalencia
ABSTRACT Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (M...
