5 results on '"Graham Kiddle"'
Search Results
2. SMIM1 underlies the Vel blood group and influences red blood cell traits
- Author
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Dorine W. Swinkels, Heather Lloyd-Jones, Hendrik G. Stunnenberg, Graham Kiddle, Hindrik H. D. Kerstens, Gregory E. Jordan, Lonneke Haer-Wigman, Rudolf S N Fehrmann, Juha Karjalainen, Herman H W Silljé, Peter A. Smethurst, Cornelis A. Albers, Harm-Jan Westra, Hein Schepers, Jonathan Stephens, J. Poole, Willem H. Ouwehand, Mattia Frontini, Derek L. Stemple, Nicole Soranzo, Nicholas A. Watkins, Niek Verweij, Samantha Farrow, Augusto Rendon, Emile van den Akker, Vincent G. Haver, Alan Gray, C. Ellen van der Schoot, Ana Cvejic, Jennifer G. Sambrook, Myrto Kostadima, Nick Goldman, Ewa Bielczyk-Maczyńska, Botond Sipos, Malcolm Needs, Asif U. Tamuri, Aicha Ait Soussan, Lude Franke, Klaus Rieneck, Paul Bertone, Pim van der Harst, Masja de Haas, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Stem Cell Aging Leukemia and Lymphoma (SALL), Cardiovascular Centre (CVC), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Landsteiner Laboratory, and Clinical Haematology
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Erythrocytes ,Molecular Sequence Data ,Quantitative Trait Loci ,Iron metabolism Pathogenesis and modulation of inflammation [IGMD 7] ,GENOMES ,Electrophoretic Mobility Shift Assay ,030204 cardiovascular system & hematology ,Biology ,VARIANTS ,Article ,Frameshift mutation ,Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3] ,03 medical and health sciences ,0302 clinical medicine ,Isoantibodies ,Pregnancy ,Gene expression ,Genetics ,medicine ,Animals ,Humans ,Exome ,Gene Regulatory Networks ,Allele ,Gene ,Molecular Biology ,Alleles ,Zebrafish ,030304 developmental biology ,Oligonucleotide Array Sequence Analysis ,GENE-EXPRESSION ,0303 health sciences ,Gene knockdown ,Gene Expression Profiling ,Erythrocyte Membrane ,Homozygote ,Membrane Proteins ,Molecular biology ,3. Good health ,Gene expression profiling ,Red blood cell ,ALIGNMENT ,medicine.anatomical_structure ,biology.protein ,Blood Group Antigens ,Female ,Antibody ,Biomarkers ,Gene Deletion - Abstract
The blood group Vel was discovered 60 years ago(1), but the underlying gene is unknown. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel(2). To identify the responsible gene, we sequenced the exomes of five individuals negative for the Vel antigen and found that four were homozygous and one was heterozygous for a low-frequency 17-nucleotide frameshift deletion in the gene encoding the 78-amino-acid transmembrane protein SMIM1. A follow-up study showing that 59 of 64 Vel-negative individuals were homozygous for the same deletion and expression of the Vel antigen on SMIM1-transfected cells confirm SMIM1 as the gene underlying the Vel blood group. An expression quantitative trait locus (eQTL), the common SNP rs1175550 contributes to variable expression of the Vel antigen (P = 0.003) and influences the mean hemoglobin concentration of red blood cells (RBCs; P = 8.6 x 10(-15))(3). In vivo, zebrafish with smim1 knockdown showed a mild reduction in the number of RBCs, identifying SMIM1 as a new regulator of RBC formation. Our findings are of immediate relevance, as the homozygous presence of the deletion allows the unequivocal identification of Vel-negative blood donors.
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- 2013
3. Re-discovery of forgotten images in domestic photo collections
- Author
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David Frohlich, Graham Kiddle, and Steven Wall
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Multimedia ,Hardware and Architecture ,Computer science ,Mobile computing ,ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION ,Digital photography ,Meaning (existential) ,Management Science and Operations Research ,computer.software_genre ,computer ,Computer Science Applications ,Visual arts - Abstract
The exponential growth of digital photo collections, combined with the legacy of printed photographs, is leading families to experience difficulties in remembering and finding photographs. Paradoxically this creates new opportunities for the re-discovery of forgotten images. This paper reports a new study in this area, based on interviews and creative activities with ten families in the south east of England. The study found that many triggers for photo re-use were either speculative or accidental, and led people to reinterpret the meaning of photographs in the light of subsequent experience and social discussion. This suggests a need to support serendipitous browsing of photographs and a more fluid and provisional approach to the semantic tagging of personal media.
- Published
- 2013
4. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
- Author
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K Smith, Chantal Thys, Najet Debili, Paul Bertone, Paquita Nurden, Gabriele Strauss, Kathleen Freson, Rémi Favier, Jennifer Jolley, Cornelis A. Albers, Jennifer G. Sambrook, Dirk S. Paul, Myrto Kostadima, Ingrid P.C. Krapels, Matthew E. Hurles, Graham Kiddle, Derek L. Stemple, Jonathan Stephens, Catherine M. Hobbs, Ana Cvejic, Janine Fiedler, Willem H. Ouwehand, Christel Van Geet, Cedric Ghevaert, Claudia A. L. Ruivenkamp, Panos Deloukas, Martijn H. Breuning, Ni Huang, Ruth Newbury-Ecob, Peter A. Smethurst, Harald Schulze, MUMC+: DA KG Polikliniek (9), Genetica & Celbiologie, and RS: GROW - School for Oncology and Reproduction
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Adult ,Male ,Adolescent ,Protein subunit ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Article ,Frameshift mutation ,Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3] ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Transcription (biology) ,Genetics ,medicine ,Animals ,Congenital Bone Marrow Failure Syndromes ,Humans ,Genetic Predisposition to Disease ,Amino Acid Sequence ,Upper Extremity Deformities, Congenital ,Child ,Zebrafish ,030304 developmental biology ,0303 health sciences ,Base Sequence ,Platelet Count ,TAR syndrome ,Infant, Newborn ,Genetic Variation ,Infant ,RNA-Binding Proteins ,Sequence Analysis, DNA ,medicine.disease ,Thrombocytopenia ,Molecular biology ,Null allele ,Radius ,Regulatory sequence ,Child, Preschool ,030220 oncology & carcinogenesis ,Mutation ,Exon junction complex ,Female ,5' Untranslated Regions ,Sequence Alignment - Abstract
Item does not contain fulltext The exon-junction complex (EJC) performs essential RNA processing tasks. Here, we describe the first human disorder, thrombocytopenia with absent radii (TAR), caused by deficiency in one of the four EJC subunits. Compound inheritance of a rare null allele and one of two low-frequency SNPs in the regulatory regions of RBM8A, encoding the Y14 subunit of EJC, causes TAR. We found that this inheritance mechanism explained 53 of 55 cases (P < 5 x 10(-228)) of the rare congenital malformation syndrome. Of the 53 cases with this inheritance pattern, 51 carried a submicroscopic deletion of 1q21.1 that has previously been associated with TAR, and two carried a truncation or frameshift null mutation in RBM8A. We show that the two regulatory SNPs result in diminished RBM8A transcription in vitro and that Y14 expression is reduced in platelets from individuals with TAR. Our data implicate Y14 insufficiency and, presumably, an EJC defect as the cause of TAR syndrome.
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- 2012
5. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
- Author
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Augusto Rendon, Ana Cvejic, Paquita Nurden, Peter A. Smethurst, Ross Kettleborough, Randy J. Read, Willem H. Ouwehand, Katrin Voss, Rémi Favier, Graham Kiddle, Paul Bertone, Marie-Christine Alessi, Myrto Kostadima, Botond Sipos, Cornelis A. Albers, Alan T. Nurden, Evelien E. Bouwmans, Gregory E. Jordan, Jonathan Stephens, Suthesh Sivapalaratnam, Cvejic, Ana [0000-0003-3204-9311], Bertone, Paul [0000-0001-5059-4829], Read, Randy [0000-0001-8273-0047], Stephens, Jonathan [0000-0003-2020-9330], Rendon Restrepo, Augusto [0000-0001-8994-0039], Ouwehand, Willem [0000-0002-7744-1790], Apollo - University of Cambridge Repository, and Vascular Medicine
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Adult ,Blood Platelets ,Male ,Embryo, Nonmammalian ,Platelet disorder ,Molecular Sequence Data ,Nerve Tissue Proteins ,030204 cardiovascular system & hematology ,Cytoplasmic Granules ,Gray Platelet Syndrome ,Article ,Gray platelet syndrome ,Animals, Genetically Modified ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Sequence Homology, Nucleic Acid ,Genetics ,medicine ,Gene silencing ,Animals ,Humans ,Platelet ,Zebrafish ,Gene ,Exome sequencing ,030304 developmental biology ,Aged ,Regulation of gene expression ,0303 health sciences ,biology ,Base Sequence ,Secretory Vesicles ,Gene Expression Regulation, Developmental ,Sequence Analysis, DNA ,Middle Aged ,biology.organism_classification ,medicine.disease ,Pedigree ,Immunology ,Female - Abstract
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causative gene; it has no previously known function but is a member of a gene family that is involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation.
- Published
- 2011
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