A5008772405- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Pancreatic function and diabetes
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Diabetes and associated disorders
- Congenital heart defects research
- RNA modifications and cancer
- Congenital limb and hand anomalies
- Craniofacial Disorders and Treatments
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Renal and related cancers
- Cleft Lip and Palate Research
- Genetic and rare skin diseases.
- Metabolism, Diabetes, and Cancer
- Tumors and Oncological Cases
- Hedgehog Signaling Pathway Studies
- Congenital Ear and Nasal Anomalies
- Connective tissue disorders research
- Diabetes Management and Research
- RNA regulation and disease
- Protein Tyrosine Phosphatases
- Chromosomal and Genetic Variations
University of Southampton
2015-2024
Princess Anne Hospital
2013-2024
University Hospital Southampton NHS Foundation Trust
2015-2024
John Wiley & Sons (United States)
2022-2023
Hudson Institute
2022-2023
Liechtenstein Institute
2023
Southampton General Hospital
1990-2022
University of Birmingham
2021
William Harvey Research Institute
2021
National Institute for Health Research
2021
Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, cause is unknown. Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated secretion from pancreatic beta cells, we hypothesized that activating mutations in gene encoding Kir6.2 subunit this channel (KCNJ11) diabetes.We sequenced KCNJ11 29 patients diabetes. The secretory response to intravenous glucagon, glucose, sulfonylurea...
Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months of life, with remission infancy or early childhood. For approximately 50% patients, their will relapse later life. The majority cases result from anomalies imprinted region on chromosome 6q24, and 14 patients ATP-sensitive K+ channel (K(ATP) channel) gene mutations have been reported. We determined 6q24 status 97 TNDM. In whom no abnormality was identified, KCNJ11 and/or ABCC8 gene, which encode Kir6.2 SUR1...
Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous several genes. Neonatal diabetes the presenting feature many discrete phenotypes defined by different causes. Genetic subtype defines treatment, with glycaemic control sulfonylurea treatment for most patients potassium channel mutations. We investigated effect early, comprehensive all known causes neonatal...
<h3>Background</h3> inflammation and, levels of inflammatory markers, CRP and other cytokines are important for enhancing insulin resistance in PsA patients. Inflammation players enhancement develpoment psoriatic arthritis <h3>Objectives</h3> To investigate the relation between presence disease activity. activity patients with arthritis. <h3>Methods</h3> <i>Patients Inclusion criteria:</i> all this study had duration 5 years or more. All under conventional DMARDs treatment form methotrexate...
To explore the genetic architecture of human overgrowth syndromes and growth control, we performed experimental bioinformatic analyses 710 individuals with (height and/or head circumference ≥+2 SD) intellectual disability (OGID). We identified a causal mutation in 1 14 genes 50% (353/710). This includes HIST1H1E, encoding histone H1.4, which has not been associated developmental disorder previously. The pathogenic HIST1H1E mutations are predicted to result product that is less effective...
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth with variable expression. To define the range and frequency of complications in BWS, we have studied cohort 76 affected patients (two previously reported). The most frequent were macroglossia (97%), abdominal wall defect (80%) birth weight or postnatal growth > 90th centile (88%). Other common features ear creases/pits (76%), facial naevus flammeus (62%), nephromegaly (59%) hypoglycaemia (63%). Rarer included hemihypertrophy (24%),...
Transient neonatal diabetes (TND) is a rare type of that presents soon after birth, resolves by 18 months, and predisposes to later in life. A total 30 patients were ascertained investigated for aberrations chromosome 6. genotype/phenotype study was also performed. Genotypically, these can be classified into 4 etiologic groups. Group 1 had paternal uniparental isodisomy 6 (11 cases, including set identical twins). 2 duplication involving band 6q24, which origin where tested (4 sporadic cases...
BACKGROUND: Recent reports have suggested a higher risk of Beckwith–Wiedemann syndrome (BWS) and Angelman (AS) after assisted reproductive technologies (ARTs), but it is unclear whether this might also apply to other disorders genomic imprinting. METHODS: We contacted families children with BWS, AS, Prader–Willi (PWS) transient neonatal diabetes mellitus (TNDM) determine use ART. RESULTS: A statistically significant increased frequency ART in BWS was confirmed [2.9%, 95% confidence interval...
Abstract Dense surface models can be used to analyze 3D facial morphology by establishing a correspondence of thousands points across each face image. The provide dramatic visualizations face‐shape variation with potential for training physicians recognize the key components particular syndromes. We demonstrate their use visualize and shape differences in collection images that includes 280 controls (2 weeks 56 years age), 90 individuals Noonan syndrome (NS) (7 months years), 60...
We report the first case of maternal uniparental disomy chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither was paternal origin. is above average intelligence, but he has hydrocephalus, bifid uvula, premature puberty, short stature, and small testes. It not known if clinical findings are related or coincidental to disomy.
Neonatal diabetes can either remit and hence be transient or else may permanent. These two phenotypes were considered to genetically distinct. Abnormalities of 6q24 are the commonest cause neonatal (TNDM). Mutations in KCNJ11, which encodes Kir6.2, pore-forming subunit ATP-sensitive potassium channel (KATP), permanent (PNDM). In addition diabetes, some KCNJ11 mutations also result marked developmental delay epilepsy. more severe on functional characterization. We investigated whether could...
<b>Background:</b> The most commonly reported phenotypes described in patients with <i>PTEN</i> mutations are Bannayan–Riley–Ruvalcaba syndrome (BRRS), childhood onset, macrocephaly, lipomas and developmental delay, Cowden Syndrome (CS), an adult-onset condition recognised by mucocutaneous signs, a risk of cancers, particular those the thyroid breast. It has been suggested that BRRS CS same condition, but literature continues to separate them seek genotype–phenotype correlation....