Paul Rutland

Paul Rutland
University College London | UCL · Institute of Child Health

BSc chemistry

About

56
Publications
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Introduction
Paul Rutland is retired but worked as a Laboratory Manager at the Institute of Child Health, University College London. Paul did research in Radioimmunoassay methods, Cancer Research, Cell Biology and Molecular Genetics. He was for many years laboratory manager for groups of research scientists in various aspects of molecular genetics at ICH. His technical expertise was in blotting, PCR techniques ,oligo synthesis and Sanger sequencing
Additional affiliations
September 1979 - October 2013
University College London
Position
  • Laboratory Manager
August 1978 - December 2012
University College London
Position
  • Laboratory Manager
September 1972 - August 1978
Guy's and St Thomas' NHS Foundation Trust
Position
  • Technician
Description
  • Junior technician becoming laboratory manager in 1975

Publications

Publications (56)
Article
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Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (...
Article
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Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2 in nine unrelated affected ind...
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Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous. Mutation analysis identified five frameshift mutatio...
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This systematic review highlights the similarities and variations in Ossa cordis prevalence , histology and anatomical location between differing veterinary species and in humans. In addition, it also identifies associated factors such as aging and cardiovas-cular disease for each species in relation to functional roles and developmental mechanisms...
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Populus trees meet continuous difficulties from the environment through their life cycle. To warrant their durability and generation, Populus trees exhibit various types of defenses, including the production of secondary metabolites. Syntheses derived from the shikimate-phenylpropanoid pathway are a varied and plentiful class of secondary metabolit...
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n the global human population, the leading cause of non-communicable death is cardiovascular disease. It is predicted that by 2030, deaths attributable to cardiovascular disease will have risen to over 20 million per year. This review compares the cardiomyopathies in both human and non-human animals and identifies the genetic associations for each...
Article
Complex I is the first and largest enzyme in the respiratory chain and is located in the inner mitochondrial membrane. Complex I deficiency is the most commonly reported mitochondrial disorder presenting in childhood, but the molecular basis of most cases remains elusive. We describe a patient with complex I deficiency caused by mutation of the mol...
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The mitochondrial DNA mutation m.1555A>G predisposes to hearing loss following aminoglycoside antibiotic exposure in an idiosyncratic dose-independent manner. However, it may also cause maternally inherited hearing loss in the absence of aminoglycoside exposure or any other clinical features (non-syndromic hearing loss). Although m.1555A>G was iden...
Article
Background / Purpose: Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. Clinical presentation of complex I defects include a broad array of heterogeneous phenotypes. Currently, causative mutations are identified in fewer than 50% of cases: ~25% have mutations in mitochondrial DNA, another ~20% h...
Article
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Complex I is the first and largest enzyme in the respiratory chain and is located in the inner mitochondrial membrane. Complex I deficiency is the most commonly reported mitochondrial disorder presenting in childhood, but the molecular basis of most cases remains elusive. We describe a patient with complex I deficiency caused by mutation of the mol...
Article
a b s t r a c t We have amplified Mycobacterium leprae DNA from the skeleton of an adult human female exhibiting signs of lepromatous leprosy (LL). The remains were excavated from the site of Devkesken 6 on the Ustyurt plateau of Uzbekistan and date to between the 1st and 4th centuries AD. Recovered DNA was fragmented but of sufficient quality and...
Article
a b s t r a c t The study focuses on the evidence for tuberculosis apparent in an Iron Age population recovered from the cemetery of Aymyrlyg, Tyva (Tuva), South Siberia. A recent wholly molecular study of five of the cases confirmed the presence of Mycobacterium tuberculosis (MTB) complex DNA in four of the individuals. In all cases the disease wa...
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Tuberculosis has plagued humankind since prehistoric times, as is evident from characteristic lesions on human skeletons dating back to the Neolithic period. The disease in man is due predominantly to infection with either Mycobacterium tuberculosis or Mycobacterium bovis, both members of the M. tuberculosis (MTB) complex. A number of studies have...
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Mutations in GJA12 have been shown to cause Pelizaeus-Merzbacher-like disease (PMLD). We present two additional patients from one family carrying a homozygous frameshift mutation in GJA12. Both presented initially with nystagmus. The older girl developed ataxia first, then progressive spastic ataxia. The younger boy suffered from severe sensory neu...
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Axenfeld-Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the PITX2 homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutation in the PITX2 homeodomain, which is associated with brain abnormal...
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We present the clinical and radiographic findings in a mother and son with a dominantly inherited mesomelic skeletal dysplasia almost identical to that described in a large Thai family by Kantaputra et al., in which ankle, carpal and tarsal synostoses were noted. The proband in the family is a 48-year-old woman with mesomelic limb shortening, most...
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Several mutations involving the fibroblast growth factor receptor (FGFR) gene family have been identified in association with phenotypically distinct forms of craniosynostosis. One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like doma...
Article
Full-text available
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures. Several different missense and other mutations have been identified in Crouzon syndrome patients, clustering around the third immunoglobulin-like do...
Article
The causative relationship between several of the syndromic forms of craniosynostosis and mutations in the fibroblast growth factor receptor (FGFR) loci is now well established. However, within the group of patients with craniosynostosis, there are several families and sporadic cases whose clinical features differ in variable degrees from the class...
Article
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Mutations in the gene encoding CD40 ligand have been shown to be the cause of X-linked hypogammaglobulinemia with hyper IgM (HIGM1). We have used the technique of single strand conformational polymorphism (SSCP) analysis to screen for mutations in this gene in affected boys from nineteen unrelated families. Sixteen novel mutations were identified i...
Article
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Craniosynostosis, which affects approximately 1 in 2000 children, is the result of the abnormal development and/or premature fusion of the cranial sutures. Studies of mutations in patients with craniosynostosis have shown that the family of fibroblast growth factor receptor genes are extremely important in the correct formation of the skull, and di...
Article
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Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor recep...
Article
Full-text available
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digita...
Article
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Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor...
Article
In 25 phenylketonuria (PKU) patients from the eastern FRG, restriction fragment length polymorphism haplotypes of the phenylalanine hydroxylase (PAH) locus and 4 point mutations common in other European populations have been determined. This report presents molecular and clinical data of those patients who were 'true homozygotes' - carrying the sam...
Article
A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand c...
Article
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We studied DNA from 29 families with at least one member with ornithine carbamoyl transferase (OCT) deficiency and have found a mutation in the TaqI site within exon 5 of the OCT gene in a female presenting at the age of 21 months. Hybridisation with site specific oligonucleotides shows that the mutation is a C to T substitution resulting in a glut...
Article
Full-text available
A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand c...
Article
We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested prenatal diagnosis in a future pregnancy. The delta F508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and the child was doubly deleted. In only 4 famil...
Article
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Restriction fragment length polymorphisms (RFLPs) in 55 families affected by retinoblastoma have been studied using recombinant DNA probes derived from within the retinoblastoma predisposition gene. Only six families were uninformative for any of the DNA polymorphisms. The remaining 49 families can be offered prenatal screening. No obligate recombi...
Article
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The authors have analysed the esterase-D levels in 500 retinoblastoma patients of whom 15 showed red cell enzyme activities of approximately 50% that of normal controls. Chromosome analysis of these 15 patients confirmed the presence of a deletion involving region 13q14 in all cases. Seven of the 15 cases had not previously been diagnosed and all o...
Article
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During routine screening of retinoblastoma patients for esterase D activity in red blood cell lysates a patient was identified with only 50% of normal enzyme activity. Chromosome analysis showed that this patient had a small deletion within chromosome region 13q14. Parental studies showed that, whereas the father had normal enzyme levels, the mothe...
Article
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At present, therefore, it is possible to diagnose chromosome deletion carriers using ESD quantitation and also to follow the inheritance of the predisposition to Rb in a proportion of families. We have recently shown that both quantitative and qualitative analysis of the ESD enzyme can be carried out on samples derived from the chorionic villus (CV...
Article
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A patient with severe mental retardation and other congenital abnormalities who developed retinoblastoma was shown to have a deletion on the long arm of chromosome #13 with breakpoints in regions q14 and q31. Quantitation of enzyme activity of the esterase-D gene which, together with the retinoblastoma locus, is located in region 13q14 showed level...
Article
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Fifty retinoblastoma families have been studied. In 41 it has been possible to determine the esterase-D phenotypes in all family members. Seven families were informative for the enzyme polymorphism and in all cases cosegregation of the retinoblastoma gene and esterase-D alleles was demonstrated, giving a lod score of 2.61. When combined with other...
Article
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Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, which confers a prezygotic predisposition to tumour development. As offspring of deletion carriers have a 50% risk of inheriting the predisposition locus it is important to identify deletion carriers. The site of the esterase...
Article
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Esterase-D phenotypes and in vitro activity have been measured in red blood cells from 258 retinoblastoma patients and 73 unaffected relatives. Individuals with the 1-1 and 2-1 phenotypes showed distributions of enzyme activity which were not significantly different from each other. Individuals with the 2-2 phenotype, however, consistently showed a...
Article
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Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed as deletion carriers. These obs...
Article
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A radioimmunoassay (RIA) for the measurement of fetal haemoglobin (HbF) was established and used to determine the distribution of HbF in 2463 British adults between the ages of 18 and 65 years. Although a range in HbF values was similar in both genders a shift towards higher values is seen in females and the mean HbF% is higher, in females, at all...
Article
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A study was carried out in 6 healthy volunteers to test the hypothesis that weight gain associated with amitriptyline treatment may be due to hypoglycaemia caused by increased circulating blood insulin. Subjects were treated with 50 mg amitriptyline b.d. for 28 days. Estimations made of serum levels of amitriptyline and its metabolite nortriptyline...
Article
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Plasma insulin and growth hormone levels were measured during morning and afternoon oral glucose tolerance tests performed on 12 young men at three monthly intervals in the Antarctic. No diurnal or seasonal differences in growth hormone levels were found. However there were diurnal and seasonal variations in the blood glucose/plasma insulin relatio...
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Insulin 0.05 mu/kg body weight was injected intravenously into 14 subjects both at 8 a.m. and 5 p.m. in random order 12 hrs after a 50 g glucose meal. Fasting glucose levels were similar in both cases but the 48percent plus or minus 10 percent fall in blood glucose in the morning was significantly greater (p smaller than 0.001) than that of 34 perc...
Article
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PDF Download Permissions and Reprints Correction to Effect of Adrenaline on Plasma Vitamin C Levels in Normal SubjectsHorm Metab Res 1974; 6(03): 234-237 DOI: 10.1055/s-0028-1093860 Abstract In the paper by B.D. Cox et al.: "Effect of adrenaline on plasma vitamin C levels in normal subjects", Horm.Metab.Res. 6: 234-237 (1974) , the correct readin...
Article
Studies of the effect of the intravenous injection of adrenaline on Vitamin C metabolism in healthy subjects showed that it produced a rapid and significant fall in plasma Vitamin C levels. The levels began to increase again before the end of the 30 minute adrenaline infusion. The administration of a β-blocker - Propranolol - immediately prior to t...

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