Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Institute of Orthopaedics and Traumatology, Faculty of Medicine FMUSP, University of São Paulo, São Paulo, Brazil.
Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Applied Physiology and Nutrition Research Group, School of Physical Education and Sport; Rheumatology Division; Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, BR, University of São Paulo, Brazil.
Food Research Center, University of São Paulo, São Paulo, Brazil.
Laboratory of Animal Microbiology, Department of Animal Science, Graduate School of Agricultural Science, Tohoku University, 468-1, Aramaki Aza Aoba, Aoba-ku, Sendai 980-0845, Japan.
Laboratory of Animal Microbiology, Department of Animal Science, Graduate School of Agricultural Science, Tohoku University, 468-1, Aramaki Aza Aoba, Aoba-ku, Sendai 980-0845, Japan.
University of São Paulo, Medicine University of Ribeirão Preto (FMRP-USP), Ribeirão Preto, São Paulo, Brazil. matheus.norberto@usp.br.
University of São Paulo, School of Physical Education and sport of Ribeirão Preto (EEFERP-USP), Ribeirão Preto, São Paulo, Brazil. matheus.norberto@usp.br.
Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Applied Physiology and Nutrition Research Group, Rheumatology Division, Faculdade de Medicina FMUSP, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil.
Reverse transcription quantitative PCR (RT-qPCR) with intercalating dyes is one of the main techniques to assess gene expression levels used in basic and applied research as well as in diagnostics. Ho...
ExonSurfer combines the different steps of the primer design process, encompassing target selection, specificity and self-complementarity assessment, and the avoidance of issues arising from polymorph...
ExonSurfer offers a comprehensive end-to-end primer design, guaranteeing transcript-specific amplification. The user interface is intuitive, providing essential specificity and amplicon details. The t...
Duchenne muscular dystrophy (DMD) is a severe genetic disease caused by the loss of the dystrophin protein. Exon skipping is a promising strategy to treat DMD by restoring truncated dystrophin. Here, ...
Duchenne Muscular dystrophy (DMD), a yet-incurable X-linked recessive disorder that results in muscle wasting and loss of ambulation is due to mutations in the dystrophin gene. Exonic duplications of ...
Congenital hyperinsulinism (CHI) is genetically heterogeneous, caused by pathogenic variants in multiple known genes regulating insulin secretion from the pancreatic β-cells. The ABCC8 gene encodes th...
Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to ...
Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically heterogeneous disease that is characterized by vascular disorder. FEVR exhibits strikingly variable clinical phenotyp...
BACKGROUND : Wilson disease (WD) is an autosomal recessive disorder caused by mutation in the Adenosine Triphosphate 7B (ATP7B) gene. The spectrum of ATP7B mutation varies in different populations. Th...
It was a cross sectional observational study. The study was conducted at the Department of Paediatric Gastroenterology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from Janu...
In this study, a single novel homozygous mutation pLeu.1071Val in the exon 14 was found in every (100%) studied child clinically diagnosed with WD. Heterozygous mutation p.Gly1061Glu in exon14 was als...
We found three novel mutations in Bangladeshi children with WD, one of which may be tagged as founder mutation for Bangladeshi population. This finding indicates the necessity to study the mutation pr...
About 80% of congenital hearing loss cases have genetic causes, often autosomal recessive and non-syndromic. Autosomal Recessive Non-syndromic hearing loss is characterized by extreme genetic heteroge...
To report a case of congenital hearing loss with novel homozygous deletion in GRXCR1 gene....
Case reports and review of literatures....
In this study, the proband was a 32-year-old woman seeking pre-marriage genetic counseling with non-syndromic congenital hearing loss. An owing negative test for GJB2 mutations, she underwent exome se...
We identified a novel...
For patients with stage IV non-small-cell lung cancer with epidermal growth factor receptor (EGFR) exon 19 deletions and exon 21 L858R mutations, osimertinib is the standard of care. Investigating the...
Patients with stage IV non-small-cell lung cancer with confirmed EGFR exon 18 G719X, exon 20 S768I, or exon 21 L861Q mutations were eligible. Patients were required to have measurable disease, an East...
Between May 2018 and March 2020, 17 patients were enrolled and received study therapy. The median age of patients was 70 years (interquartile range 62-76), the majority were female (n = 11), had a per...
This trial suggests osimertinib has activity in patients with these uncommon EGFR mutations....
