A5054704612- Lymphatic System and Diseases
- Glaucoma and retinal disorders
- Skin and Cellular Biology Research
- Vascular Malformations and Hemangiomas
- Connective tissue disorders research
- Entomological Studies and Ecology
- Diagnosis and Treatment of Venous Diseases
- Retinal Development and Disorders
- Sympathectomy and Hyperhidrosis Treatments
- Retinal Diseases and Treatments
- DNA Repair Mechanisms
- Protein Tyrosine Phosphatases
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Ubiquitin and proteasome pathways
- dental development and anomalies
- Hippo pathway signaling and YAP/TAZ
- Hidradenitis Suppurativa and Treatments
- Erythrocyte Function and Pathophysiology
- Colorectal and Anal Carcinomas
- Retinopathy of Prematurity Studies
- Venous Thromboembolism Diagnosis and Management
- Blood properties and coagulation
- Hedgehog Signaling Pathway Studies
St. Mary's Hospital
2022
St George's, University of London
2011-2022
St George's Hospital
2007-2017
South West London and St George's Mental Health NHS Trust
2011-2015
St George’s University Hospitals NHS Foundation Trust
2011-2015
St George's Hospital
1999-2013
King's College London
2013
Guy's Hospital
2013
Guy's and St Thomas' NHS Foundation Trust
2013
Wageningen University & Research
2013
Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In study 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 designated it OPTN (for “optineurin”). Sequence alterations in were found 16.7% hereditary including normal intraocular pressure. The codes for conserved 66-kilodalton protein unknown function that has been implicated tumor necrosis factor–α signaling...
Abstract Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by uniform, widespread affecting all segments the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces pericardial effusions. This may present prenatally non-immune hydrops. Here we report homozygous and compound heterozygous mutations in PIEZO1 , resulting an autosomal recessive GLD high incidence hydrops fetalis childhood onset...
Abstract Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition subcutaneous fat. an under‐recognized condition, often misdiagnosed as lymphedema or dismissed simple obesity. We present series pedigrees propose that lipedema genetic with either X‐linked dominant inheritance more likely, autosomal sex limitation. appears be almost exclusively affecting females, presumably estrogen‐requiring it usually manifests at puberty. entity...
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to GLC3A locus on chromosome 2p21. This could be first direct evidence supporting hypothesis that members P450 superfamily may control processes growth and differentiation. present a comprehensive sequence analysis translated regions CYP1B1 22 PCG 100 randomly selected normal individuals. Sixteen six polymorphisms were identified, illustrating...
<b>Introduction:</b> Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in <i>FOXC2</i>, forkhead transcription factor gene. Numerous clinical associations reported this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. <b>Subjects:</b> We report findings 74 affected subjects from 18 families six isolated...
Background— Mutations in the FOXC2 gene cause lymphedema distichiasis, an inherited primary which a significant number of patients have varicose veins. Because distichiasis is believed to be caused by lymphatic valve failure (reflux), and highly expressed on venous valves mouse embryos, we tested hypothesis that mutations may linked reflux. Methods Results— The system leg was investigated with Duplex ultrasound. Pathological reflux recorded color ultrasound all 18 participants mutation,...
Background and Purpose— Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts Leukoencephalopathy (CADASIL) is an inherited arteriopathy clinical features that include recurrent lacunar stroke, migraine, cognitive impairment. For reasons remain unclear, there great variability in the expression of CADASIL, both between within families. This study examined phenotype as well any associations risk factors genotype a large, prospective cohort. Methods— Two hundred symptomatic...
Mutations in vascular endothelial growth factor (VEGF) receptor-3 (VEGFR3 or FLT4) cause Milroy disease, an autosomal dominant condition that presents with congenital lymphedema. VEGFR3 are identified only 70% of patients classic suggesting genetic heterogeneity.To investigate the underlying clinical signs resembling disease whom sequencing coding region did not reveal any pathogenic variation.Exome 5 such was performed, and a novel frameshift variant, c.571_572insTT VEGFC, ligand for...
Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or body tissue. The majority of hydrops cases are nonimmune conditions that present with generalized edema the fetus, approximately 15% these result from a lymphatic abnormality. Here, we have identified an autosomal dominant, inherited form lymphatic-related (nonimmune) (LRHF). Independent exome sequencing projects on families history utero neonatal deaths...
purpose. To investigate the clinical features of subjects with glaucoma E50K mutation in optineurin (OPTN) gene and to compare onset, severity, course these patients a control group without this mutation. methods. The phenotype well-characterized from Moorfields Eye Hospital, London, who had been identified as carrying OPTN was examined. A wide range structural, psychophysical, demographic factors were then compared those results. Eleven (nine two families sporadic cases) studied. All 11...
<h3>Background</h3> Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is genetic in origin, and multigenerational family which eight individuals developed postnatal all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George9s Hospital. <h3>Methods</h3> Linkage analysis used to determine locus, exome sequencing employed look for causative variants. <h3>Results</h3> revealed cosegregation 16.1 Mb haplotype...
Mutations in the FBN1 gene have been characterised patients affected by Marfan syndrome and Marfan-related disorders. Starting with genomic DNA, we analysed using PCR, SSCP and/or dHPLC analysis, automatic sequencing of abnormal bands/peaks, a consecutive series 508 patients, which 22 were children less than 5 years old. Our results are comparable those reported other groups. In this study observed 193 mutations, 126 previously unreported. A total 331 relatives (including 51 infants) 120...
Traditional classification systems for lymphoedema are of limited use the diagnosis specific forms primary lymphoedema. The understanding has been impeded by confusing terminology and a tendency to simply divide patients into three categories based on age onset: congenita manifests at or shortly after birth, praecox is apparent before 35 years tarda thereafter. clinical presentation in spectrum disorders very variable; phenotypes conditions vary onset, site oedema, inheritance patterns,...