Search Results - "Dunn, Paul J."

Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology by Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R.

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused by mutations in NOTCH3 and results…”
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GSTM1 and GSTT1 polymorphisms associated with pain in a chemotherapy-induced peripheral neuropathy cohort by Dunn, Paul J., Griffiths, Lyn R., Yates, Patsy, Haupt, Larisa M., Alexander, Kim E.

“…Purpose Chemotherapy induced peripheral neuropathy (CIPN) is a debilitating condition that is a direct consequence of receiving cancer treatment. The molecular…”
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KIR diversity in Māori and Polynesians: populations in which HLA-B is not a significant KIR ligand by Nemat-Gorgani, Neda, Edinur, Hisham A., Hollenbach, Jill A., Traherne, James A., Dunn, Paul P. J., Chambers, Geoffrey K., Parham, Peter, Norman, Paul J.

“…HLA class I molecules and killer cell immunoglobulin-like receptors (KIR) form a diverse system of ligands and receptors that individualize human immune…”
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Investigating a Genetic Link Between Alzheimer’s Disease and CADASIL-Related Cerebral Small Vessel Disease by Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R.

“…Monogenic forms of Alzheimer’s disease (AD) have been identified through mutations in genes such as APP, PSEN1, and PSEN2 , whilst other genetic markers such…”
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Tiered analysis of whole-exome sequencing for epilepsy diagnosis by Dunn, Paul J., Maher, Bridget H., Albury, Cassie L., Stuart, Shani, Sutherland, Heidi G., Maksemous, Neven, Benton, Miles C., Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R.

“…It is thought that despite highly variable phenotypic expression, 70—80% of all epileptic cases are caused by one or more genetic mutations. Next generation…”
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The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients by Ngo, Thi Tuyet Dieu, Lea, Rodney A., Maksemous, Neven, Eccles, David A., Smith, Robert A., Dunn, Paul J., Thao, Van Cao, Ha, Thi Minh Thi, Bùi, Chi Bao, Haupt, Larisa M., Scott, Rodney, Griffiths, Lyn R.

“…•This study provides evidence that the MinION can reliably detect known mutations in SCN1A.•This technology is a cost-effective platform for under-resourced…”
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Variant Call Format-Diagnostic Annotation and Reporting Tool: A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data by Benton, Miles C, Smith, Robert A, Haupt, Larisa M, Sutherland, Heidi G, Dunn, Paul J, Albury, Cassie L, Maksemous, Neven, Lea, Rodney, Griffiths, Lyn

“…In this article, we introduce the variant call format-diagnostic annotation and reporting tool (VCF-DART), a customized analysis pipeline tool for the rapid…”
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A “silent” nucleotide substitution in exon 4 is responsible for the “alternative expression” of HLA-A01 : 01 : 38L through aberrant splicing by Dunn, Paul P.J, Hammond, Laura, Coates, Ernest, Street, Jane, Griner, Leon, Darke, Christopher

“…Abstract A Welsh Bone Marrow Donor Registry donor was serologically typed, using both alloantisera and monoclonal antibodies, as human leukocyte antigen…”
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Epstein-Barr virus–positive mucocutaneous ulcer of the oral cavity: the importance of having a detailed clinical history to reach a correct diagnosis by Attard, Alan A., MD, BChD, MFDSRCS, MFDSRCPS, MRCS, Praveen, Prav, MB ChB, BDS, FDSRCS, FFDRCSI, MRCS, Dunn, Paul J.S., MBBS, FRCPath, James, Graham J., MB ChB, BDS, FDSRCPS, FRCS, FRCS (OMFS)

“…Epstein-Barr virus–positive mucocutaneous ulcer (EBVMCU) is a recently recognized clinicopathological entity. It presents as an ulcerative lesion with…”
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Three Cases of an Unusual Pattern of Invasion in Malignant Brenner Tumors by St Pierre-Robson, Kelvin, Dunn, Paul J, Cooper, Edwin, Tofazzal, Nasima, Hirschowitz, Lynn, McCluggage, W Glenn, Ganesan, Raji

“…Ovarian malignant Brenner tumors are rare neoplasms that are typically admixed with benign and borderline Brenner tumor elements. We report 3 cases of an…”
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BSHI guideline: HLA matching and donor selection for haematopoietic progenitor cell transplantation by Little, Ann‐Margaret, Akbarzad‐Yousefi, Arash, Anand, Arthi, Diaz Burlinson, Natalia, Dunn, Paul P. J., Evseeva, Irina, Latham, Katy, Poulton, Kay, Railton, Dawn, Vivers, Sharon, Wright, Paul A.

“…A review of the British Society for Histocompatibility and Immunogenetics (BSHI) Guideline ‘HLA matching and donor selection for haematopoietic progenitor cell…”
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Unambiguous high resolution genotyping of human leukocyte antigens by Bradshaw, Robert A., Dunn, Paul P.J.

“…We have developed a high resolution sequencing based typing method for genotyping Human Leukocyte Antigens (HLA) over a period of twenty years. The methods are…”
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Anti‐N‐methyl‐d‐aspartate receptor encephalitis in Māori and Pacific Island children in New Zealand by Jones, Hannah F, Mohammad, Shekeeb S, Reed, Peter W, Dunn, Paul P J, Steele, Richard H, Dale, Russell C, Sharpe, Cynthia

“…Aim To investigate the incidence and severity of anti‐N‐methyl‐d‐aspartate (anti‐NMDA) receptor encephalitis in children from New Zealand. Method A…”
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Novel Approaches and Technologies in Molecular HLA Typing by Dunn, Paul P J

“…The invention of the Polymerase Chain Reaction (PCR) has revolutionized molecular biology enabling gene isolation and characterization in hours rather than…”
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Diversity in exon 5 of HLA-C04:01:01G is significant in anthropological studies by Dunn, Paul PJ, Lamb, Gareth, Selwyn, Caroline, Compton, Jillian, Yang, Edward, Maiers, Martin, Fernandez-Vina, Marcelo

“…Polymorphisms in Human Leukocyte Antigen (HLA) class I genes are generally considered to be relevant only if they reside in exons 2 and 3 or if they affect the…”
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Recent Developments in Transplantation and Transfusion Medicine by Edinur, Hisham A, Chambers, Geoffrey K, Dunn, Paul P J

“…Transplantation and transfusion are related and clinically important areas of multidisciplinary expertise, including pre-operative treatment, donor…”
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Variant Call Format–Diagnostic Annotation and Reporting Tool by Benton, Miles C., Smith, Robert A., Haupt, Larisa M., Sutherland, Heidi G., Dunn, Paul J., Albury, Cassie L., Maksemous, Neven, Lea, Rodney, Griffiths, Lyn

“…In this article, we introduce the variant call format–diagnostic annotation and reporting tool (VCF-DART), a customized analysis pipeline tool for the rapid…”
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HLA typing in a Kenyan cohort identifies novel class I alleles that restrict cytotoxic T-cell responses to local HIV-1 clades by BIRD, Thomas G, KAUL, Rupert, ROSTRON, Timothy, KIMANI, Joshua, EMBREE, Joanne, DUNN, Paul P. J, BWAYO, Job J, PLUMMER, Francis A, ROWLAND-JONES, Sarah L

“…To investigate HLA class I allele frequencies in a Kenyan commercial sex worker (CSW) cohort, and to examine HIV-1 specific cytotoxic T lymphocyte (CTL)…”
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Corrigendum to “Diversity in exon 5 of HLA-C04:01:01G is significant in anthropological studies” [Hum. Immunol. 77 (2016) 426–428] by Dunn, Paul P.J, Lamb, Gareth, Selwyn, Caroline, Compton, Jillian, Yang, Edward, Maiers, Martin, Fernandez-Vina, Marcelo

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Diversity in exon 5 of HLA-C∗ 04:01:01G is significant in anthropological studies by Dunn, Paul P.J, Lamb, Gareth, Selwyn, Caroline, Compton, Jillian, Yang, Edward, Maiers, Martin, Fernandez-Vina, Marcelo

“…Abstract Polymorphisms in Human Leukocyte Antigen (HLA) class I genes are generally considered to be relevant only if they reside in exons 2 and 3 or if they…”
Get full text