H
Howard E. Henderson
Researcher at University of Cape Town
Publications - 57
Citations - 2453
Howard E. Henderson is an academic researcher from University of Cape Town. The author has contributed to research in topics: Lipoprotein lipase & Population. The author has an hindex of 29, co-authored 57 publications receiving 2360 citations. Previous affiliations of Howard E. Henderson include Boston Children's Hospital & National Health Laboratory Service.
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Journal ArticleDOI
RYR1 mutations are a common cause of congenital myopathies with central nuclei
Jo M. Wilmshurst,S. Lillis,Haiyan Zhou,Komala Pillay,Howard E. Henderson,Wolfram Kress,Clemens R. Müller,Alvin Ndondo,V cloke,Thomas Cullup,Enrico Bertini,CG Boennemann,Volker Straub,Ros Quinlivan,James J. Dowling,Safa Al-Sarraj,Susan Treves,Stephen Abbs,Adnan Y. Manzur,Caroline Sewry,Francesco Muntoni,Heinz Jungbluth +21 more
TL;DR: This work investigated whether RYR1 mutations cause CNM, a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy that has been associated with mutations in MTM1, DNM2, and BIN1.
Journal ArticleDOI
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.
M V Monsalve,Howard E. Henderson,Ghislaine Roederer,Pierre Julien,Samir S. Deeb,J. J. P. Kastelein,L Peritz,R Devlin,T Bruin,M.R.V. Murthy +9 more
TL;DR: It is shown that an identical missense mutation within exon 5, resulting in an amino acid substitution of glutamic acid for glycine at position 188, is responsible for LPL deficiency in 21 of 88 LPL alleles assessed.
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Enzyme-Linked Immunospot Assay Responses to Early Secretory Antigenic Target 6, Culture Filtrate Protein 10, and Purified Protein Derivative among Children with Tuberculosis: Implications for Diagnosis and Monitoring of Therapy
Mark P. Nicol,David Pienaar,Kathryn Wood,Brian Eley,Robert J. Wilkinson,Howard E. Henderson,Liezel Smith,S Samodien,David Beatty +8 more
TL;DR: Tuberculosis-specific ELISPOT testing is a promising tool that should be evaluated as a potential diagnostic test for childhood tuberculosis, and is cautioned against the use of an early decrease in response as a marker of successful antituberculous chemotherapy.
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Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function
Hanfang Zhang,Howard E. Henderson,Howard E. Henderson,S. Eric Gagné,Susanne M. Clee,Li Miao,Guoqing Liu,Michael R. Hayden +7 more
TL;DR: Three common sequence variants of human lipoprotein lipase arise from missense mutations while the third derives from a nonsense mutation, truncating LPL by two residues, which deviated significantly from normal as regards to their secreted activity or mass levels in the COS cell transfection system.
Journal ArticleDOI
A Mutation in the Human Lipoprotein Lipase Gene as the Most Common Cause of Familial Chylomicronemia in French Canadians
Yuanhong Ma,Howard E. Henderson,M.R. Ven Murthy,Ghislaine Roederer,Maria V. Monsalve,Lorne A. Clarke,Thierry Normand,Pierre Julien,Claude Gagné,Marie Lambert,Jean Davignon,Paul J. Lupien,John D. Brunzell,Michael R. Hayden +13 more
TL;DR: A missense mutation at residue 207 of the lipoprotein lipase gene that is the most common cause of lipop protein lipase deficiency in French Canadians is identified and can be easily detected by dot blot analysis, providing opportunity for definitive DNA diagnosis of the disorder and identification of heterozygous carriers.