A5070743346- Genetics and Neurodevelopmental Disorders
- Proteins in Food Systems
- Genomic variations and chromosomal abnormalities
- Education Systems and Policy
- Genomics and Rare Diseases
- Pickering emulsions and particle stabilization
- Diverse Education Studies and Reforms
- Teacher Education and Leadership Studies
- Congenital heart defects research
- Polysaccharides Composition and Applications
- Education and Technology Integration
- Genomics and Chromatin Dynamics
- Meat and Animal Product Quality
- Food Drying and Modeling
- Food Chemistry and Fat Analysis
- Epigenetics and DNA Methylation
- Global Educational Policies and Reforms
- Chromatin Remodeling and Cancer
- Fungal Biology and Applications
- Granular flow and fluidized beds
- Genetic Syndromes and Imprinting
- Congenital Ear and Nasal Anomalies
- Microencapsulation and Drying Processes
- RNA Research and Splicing
- Food composition and properties
University Hospitals Birmingham NHS Foundation Trust
2024
Queen Elizabeth Hospital Birmingham
2024
University College London
2019-2023
Birmingham Women’s and Children’s NHS Foundation Trust
2012-2023
Birmingham Women's Hospital
2011-2023
Epilepsy Society
2023
National Hospital for Neurology and Neurosurgery
2023
National Health Service
2020
Wessex Regional Genetics Laboratory
2015-2020
Northwestern University
2019
Abstract Alexander disease is a progressive, usually fatal neurological disorder defined by the widespread and abundant presence in astrocytes of protein aggregates called Rosenthal fibers. The most often occurs infants younger than 2 years has been labeled leukodystrophy because an accompanying severe myelin deficit frontal lobes. Later onset forms have also recognized based on In these cases, clinical signs pathology can be quite different from infantile form, raising question whether they...
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals typical CdLS have novo heterozygous loss-of-function mutations in NIPBL mosaic representing significant proportion. Mutations other cohesin components, SMC1A, SMC3, HDAC8 RAD21 cause less CdLS.We screened 163 affected for coding region the known genes, 90 genomic rearrangements, 19 deep intronic variants 5 had...
Abstract Foams remain an invaluable part of the food engineer's arsenal. Unfortunately number new molecules available to stabilise foams is starting dwindle. Partially, this due difficulties finding species with favourable properties and, in many respects, trend led by a commercial need make labels ‘green’. Food grade proteins offer potential solutions, as well some excellent physical properties, when at air–water interface. This review will use example hydrophobins useful applications...
The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 modulating actin cytoskeleton remodeling. Pathogenic variants in are associated with neurodevelopmental diseases, including intellectual disability (ID) autism spectrum disorders (ASD). Here, we report largest international cohort 24 individuals confirmed pathogenic missense or nonsense TRIO. mutations spread...
Abstract An automated image analysis method for classifying and measuring pellets of filamentous fungi growing in submerged fermentations has been developed. The discriminates between pelleted mycelial growth loose aggregates dispersed hyphae. Pellets are classified into smooth hairy types. In both cases, the core pellet is identified its shape size characterized. For annular region also was tested on Aspergillus niger ATCC 11414 grown a defined medium shake flasks. This rapid makes...
MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently upper body adipose overgrowth. We describe similar massive overgrowth suppressed leptin expression in four further patients biallelic at least one allele. Overgrown tissue composed normal-sized, UCP1-negative unilocular...
Polymicrogyria (PMG) is a structural brain abnormality involving the cerebral cortex that results from impaired neuronal migration and although several genes have been implicated, many cases remain unsolved. In this study, exome sequencing in family where three fetuses had all diagnosed with PMG cerebellar hypoplasia allowed us to identify regions of genome for which both chromosomes were shared identical-by-descent, reducing search space causative variants 8.6% genome. these regions, only...
To report atypical MRI patterns associated with POLR3A and POLR3B mutations.This was a multicenter retrospective study to collect neuroradiologic, clinical, molecular data of patients mutations in without the classic phenotype, i.e., diffuse hypomyelination relative T2 hypointensity ventrolateral thalamus, globus pallidus, optic radiation, corticospinal tract at level internal capsule, dentate nucleus, cerebellar atrophy, thinning corpus callosum.Eight were identified: 6 carried 2 POLR3B. We...
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...
Summary X‐ray micro‐computed tomography (X‐ray micro‐CT) has been applied to visualise ice crystal structures formed during freezing of a number foods. Materials were frozen unidirectionally at −5 °C and then freeze‐dried remove the structure leave voids that can be measured by X‐ray. The system reconstructs 3‐D image based on set 2‐D images, is capable micrometre‐scale visualisation. This study demonstrates capability technique characterise internal microstructure range materials; meat,...