Júlia Baptista
A5074354762- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Plant-Microbe Interactions and Immunity
- Congenital heart defects research
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
- Genetic factors in colorectal cancer
- Genomics and Chromatin Dynamics
- Genetic and Kidney Cyst Diseases
- Erythrocyte Function and Pathophysiology
- Blood groups and transfusion
- Ion channel regulation and function
- Plant Pathogens and Fungal Diseases
- BRCA gene mutations in cancer
- Connective tissue disorders research
- Genetic Neurodegenerative Diseases
- RNA and protein synthesis mechanisms
Universidade Estadual de Londrina
2018-2024
University of Plymouth
2022-2024
Engineering Service Center und Handel (Germany)
2024
Phillips Exeter Academy
2020-2024
Royal Devon & Exeter NHS Foundation Trust
2017-2023
Genomics (United Kingdom)
2020-2023
Exeter Hospital
2022
University of Exeter
2017-2022
Royal Devon and Exeter Hospital
2020-2021
Government of the United Kingdom
2018
Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential test for future pregnancies. We describe our novel strategy exome sequencing parental DNA samples to diagnose recessive monogenic an audit first 50 referred.Exome was carried out consecutive series who had 1 more pregnancies affected with lethal prenatal-onset disorder. In all cases, there insufficient...
Physical stress, including high temperatures, may damage the central metabolic nicotinamide nucleotide cofactors [NAD(P)H], generating toxic derivatives [NAD(P)HX]. The highly conserved enzyme NAD(P)HX dehydratase (NAXD) is essential for intracellular repair of NAD(P)HX. Here we present a series infants and children who suffered episodes febrile illness-induced neurodegeneration or cardiac failure early death. Whole-exome whole-genome sequencing identified recessive NAXD variants in each...
Abstract Over 130 X-linked genes have been robustly associated with developmental disorders, and causes hypothesised to underlie the higher disorder rates in males. Here, we evaluate burden of coding variation 11,044 patients, find a similar rate males females (6.0% 6.9%, respectively), indicating that such variants do not account for 1.4-fold male bias. We develop an improved strategy detect disorders identify 23 significant genes, all which were previously known, consistent our inference...
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five unrelated neonates a lethal metabolic disorder characterized cardiomyopathy, corneal opacities, encephalopathy, hypotonia, seizures in whom monoallelic reciprocal duplication at the ATAD3 locus was identified. Analysis breakpoint junction fragment...
Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum human disorders affecting central nervous system, heart, kidney, other organs. While association epilepsy intellectual disability (ID) with function genes encoding is well known, GOF missense K+ channel individuals syndromic developmental have only recently been recognized. These phenotypes include...
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet mechanism underlying intestinal failure deficiency remains unclear. Here, biallelic variants were identified by next-generation sequencing 6 patients congenital diarrhea. Corroborating silico prediction, either abolished expression or altered protein conformation. Myosin VB was mass spectrometry as client of chaperone found misfolded UNC45AKO...
The development of bio-based products has increased in recent years, and species the Bacillus genus have been widely used for product due to their elevated production antimicrobial molecules resistance extreme environmental conditions through endospore formation. In this context, antifungal potential velezensis CMRP 4489 was investigated using silico predictions secondary metabolites its genome vitro tests against following phytopathogenic fungi: Sclerotinia sclerotiorum, Macrophomina...
We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans second pathogenic variant. Muscle-derived RNA studies of three individuals confirmed mis-splicing induced by the c.39974-11T>G variant; in-frame exon 214 skipping or use cryptic 3' effecting frameshift. Confounding interpretation pathogenicity is absence exons 213-217 within described skeletal muscle N2A...
PurposePathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features described for 11 patients (likely) pathogenic sequence variants. This study aims to further delineate the spectrum of SETD1B-related syndrome based on characterizing an expanded patient cohort.MethodsWe perform in-depth characterization cohort 36 unpublished individuals variants, describing their...
The development of the cerebral cortex requires balanced expansion and differentiation neural stem/progenitor cells (NPCs), which rely on precise regulation gene expression. Because NPCs often exhibit transcriptional priming cell-fate-determination genes, ultimate output these genes for fate decisions must be carefully controlled in a timely fashion at post-transcriptional level, but how that is achieved poorly understood. Here, we report de novo missense variants an RNA-binding protein...
Imbalances in mitochondrial and peroxisomal dynamics are associated with a spectrum of human neurological disorders. Mitochondrial fission both involve dynamin-related protein 1 (DRP1) oligomerisation membrane constriction, although the precise biophysical mechanisms by which distinct DRP1 variants affect assembly activity different domains remains largely unexplored. We analysed four unreported de novo heterozygous dynamin-1-like gene DNM1L , affecting highly conserved domains, leading to...
BORCS5 encodes a subunit of the BLOC-one-related complex (BORC), which is known to mediate kinesin-dependent anterograde movement lysosomes. Using whole-exome sequencing, we identified 12 cases from seven families carrying bi-allelic variants, including four loss-of-function and two missense variants. Carriers homozygous variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, neuropathological evidence diffuse neuroaxonal dystrophy. Individuals...
<h3>Background</h3> Congenital chromosome abnormalities are relatively common in our species and among structural the most class is balanced reciprocal translocations. Determining parental origin of de novo translocations may provide insights into how when they arise. While there a general paternal bias non-recurrent unbalanced rearrangements, few data on rearrangements. <h3>Methods</h3> The series was determined using DNA from flow sorted derivative chromosomes linkage analysis....
Context: IGF-II is an imprinted gene (predominantly transcribed from the paternally inherited allele), which has important role in fetal growth mice. IGF2 expression regulated by a complex system of enhancers and promoters that determine tissue-specific development-specific transcription. In mice, are located up to 260 kb telomeric gene. The humans unclear. Objective: A woman short adult stature (1.46 m, −3 sd score) born with severe intrauterine retardation (1.25 kg at term, −5.4 atypical...