A5086393847- Chronic Obstructive Pulmonary Disease (COPD) Research
- Asthma and respiratory diseases
- Doping in Sports
- Urological Disorders and Treatments
- Respiratory and Cough-Related Research
- Hormonal and reproductive studies
- Proteoglycans and glycosaminoglycans research
- Respiratory Support and Mechanisms
- Urinary Bladder and Prostate Research
- Developmental Biology and Gene Regulation
- Congenital heart defects research
- Pediatric Urology and Nephrology Studies
- Sports Analytics and Performance
- Inhalation and Respiratory Drug Delivery
- Behavioral Health and Interventions
- Pharmacogenetics and Drug Metabolism
- Cancer Risks and Factors
- Metabolism and Genetic Disorders
- Ocular Disorders and Treatments
- Biochemical and Molecular Research
- Global Cancer Incidence and Screening
- Folate and B Vitamins Research
- Sports, Gender, and Society
- Pediatric health and respiratory diseases
- Bladder and Urothelial Cancer Treatments
University of Manchester
2010-2024
Wellcome Centre for Cell-Matrix Research
2024
Manchester Academic Health Science Centre
2010-2020
Karolinska Institutet
2020
GlaxoSmithKline (Netherlands)
2019
Glaxosmithkline (Finland)
2019
Henry Royce Institute
2019
GlaxoSmithKline (United Kingdom)
2016-2018
Royal Manchester Children's Hospital
2015
Center for Genomic Science
2014
Abstract The International Olympic Committee (IOC) recently published a framework on fairness, inclusion, and nondiscrimination the basis of gender identity sex variations. Although we appreciate IOC's recognition role sports science medicine in policy development, disagree with assertion that IOC is consistent existing scientific medical evidence question its recommendations for implementation. Testosterone exposure during male development results physical differences between female bodies;...
Klippel-Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished by the bony fusion anterior/cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. Here we report mutations at GDF6 gene locus in familial and sporadic cases KFS including recurrent missense mutation an extremely conserved residue c.866T>C (p.Leu289Pro) association with movements inversion breakpoint downstream...
Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and abnormal facial expression upon smiling, laughing, crying. We report that subset UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats immunoglobulin-like domains 2, protein implicated neural cell signaling tumorigenesis. Importantly, we demonstrated rare variants...
Blood eosinophil counts may be predictive of corticosteroid response in chronic obstructive pulmonary disease (COPD) patients. However, little is known about measurement stability, which important for understanding the utility blood as a potential biomarker. We evaluated stability over 1 year population-based cohort patients with COPD primary care. Patients were aged ≥ 40 years forced expiratory volume second/forced vital capacity < 0.7 and taken during period stable within 6 months...
The impact of asthma and chronic obstructive pulmonary disease (COPD) on individuals' lives may be substantial, yet clinical practice often focuses only symptoms. We aimed to better understand the perspective or COPD patients identify condition-related burden, life impact, priorities, unmet needs, treatment goals. Individuals aged at least 18 years with were identified by a recruitment panel via referrals, support groups, consumer networks, patient database. Interviews carried out...
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum limited. Here, seven UFS kindreds with mutations are presented, including one deleted asparagine 254, suggesting role for this amino acid, which conserved vertebrate orthologs. were absent 23 non-neurogenic neurogenic probands and, 439 families...
Mutations in leucine-rich-repeats and immunoglobulin-like-domains 2 (LRIG2) or heparanase (HPSE2) cause urofacial syndrome, a devastating autosomal recessive disease of functional bladder outlet obstruction. It has been speculated that syndrome neural basis, but it is unknown whether defects urinary innervation are present. We hypothesized features peripheral neuropathy the bladder. Mice with homozygous targeted Lrig2 mutations had resembling those found syndrome. There was no anatomical...
Blood eosinophil count may be a useful biomarker for predicting response to inhaled corticosteroids and exacerbation risk in chronic obstructive pulmonary disease (COPD) patients. The optimal cut point categorizing blood counts these contexts remains unclear. We aimed determine the distribution of COPD patients matched non-COPD controls, describe demographic clinical characteristics at different points. identified within UK Clinical Practice Research Database aged ≥40 years with FEV1/FVC...
The pathophysiology of refractory chronic cough (RCC) is unclear. We hypothesised that endogenous inhibitory control mechanisms, such as those activated by noxious stimuli inducing pain (conditioned modulation) may be capable inhibiting coughing and urge to evoked inhaled capsaicin. Furthermore, these mechanisms impaired in patients with RCC. objective was investigate the effects on healthy volunteers RCC patients. Healthy underwent a randomised, controlled, four-way crossover study...
Oculofaciocardiodental (OFCD) syndrome is an X-linked male lethal condition encompassing cardiac septal defects, as well ocular and dental anomalies. The gene mutated in OFCD syndrome, the BCL-6 corepressor ( BCOR ), part of a transcriptional repression complex whose targets remain largely unknown. We reviewed cases identified patients exhibiting defective lateralization including dextrocardia, asplenia intestinal malrotation, suggesting that required normal laterality determination. To...
Guidelines for chronic obstructive pulmonary disease (COPD) management are based largely on results from double-blind randomised controlled trials (RCTs) of efficacy. These have high internal validity and test whether a drug is efficacious, but they conducted in highly selected populations that may differ significantly patients with COPD seen routine practice.We compared the baseline characteristics, healthcare use outcomes between Salford Lung Study (SLS), an open-label effectiveness RCT,...
Urofacial syndrome (UFS; previously Ochoa syndrome) is an autosomal recessive disease characterized by incomplete bladder emptying during micturition. This associated with a dyssynergia in which the urethral walls contract at same time as detrusor smooth muscle body of bladder. UFS also abnormal facial expression upon smiling, and bilateral weakness distribution nerve has been reported. Biallelic mutations HPSE2 occur UFS. gene encodes heparanase 2, protein inhibits activity heparanase....
RNA is subject to many modifications, from small chemical changes such as methylation through conjugation of biomolecules glycans. As well these endogenously written also exposed damage induced by its environment. Certain clinical compounds are known drive covalent modifications with a growing appreciation for how affect function. To understand the regulation we need reliable, sensitive and rapid methodology their quantification. Thus, developed AquIRE applied it analysis drug-induced...
Diabetes mellitus (DM) is the leading cause of chronic kidney disease and diabetic nephropathy widely studied. In contrast, pathobiology urinary bladder less understood despite dysfunctional voiding being common in DM. We hypothesised that cystopathy has a characteristic molecular signature. therefore studied bladders hyperglycaemic polyuric rats with streptozotocin (STZ)-induced Sixteen weeks after induction DM, as assessed by RNA arrays, wide-ranging changes gene expression occurred DM...