Výsledky vyhledávání - "Odell Loubser"

Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families

Autor: Odell Loubser, J. N. P. De Villiers, Rochelle Thiart, A.E. Retief, Roberta N. Rooney, Louise Warnich, C. J. J. Oosthuizen, Maritha J. Kotze, M.M van Niekerk, Ilse M. Groenewald, Johannes Z. Groenewald

Publikováno v: Molecular and Cellular Probes. 12:293-300

A subset of probands from 11 South African families with clinical and/or biochemical features of variegate porphyria (VP), but without the known protoporphyrinogen oxidase (PPOX) gene defects identified previously in the South African population, wer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85542dce3a76605606bc63351d546ca0
https://doi.org/10.1006/mcpr.1998.0188

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Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation

Autor: C. J. Lintott, Leonora Theart, E. Langenhoven, Odell Loubser, Maritha J. Kotze, Russell S. Scott, Armand V. Peeters

Publikováno v: Journal of Medical Genetics. 32:379-382

DNA from 14 unrelated New Zealand familial hypercholesterolaemia (FH) heterozygotes, originating from the United Kingdom, was screened for mutations in exon 4 of the low density lipoprotein receptor (LDLR) gene. One patient was heterozygous for mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0fc0b67296c10600a7adc622938714b
https://doi.org/10.1136/jmg.32.5.379

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A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia

Autor: Odell Loubser, J. Nico P. de Villiers, Rochelle Thiart, Frederick J. Raal, Charlotte L. Scholtz, Maritha J. Kotze

Publikováno v: Human Genetics. 100:101-103

Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e931b5fce9c56824b71ff16eb64bece0
https://doi.org/10.1007/s004390050473

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Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene

Autor: Armand V. Peeters, Rochelle Thiart, Maritha J. Kotze, María Rita Santos, J. N. P. De Villiers, Marco A. Vargas, Odell Loubser

Publikováno v: Human Genetics. 98:476-478

Mutation analysis of the low density lipoprotein receptor (LDLR) gene revealed a novel 8-bp duplication after nucleotide 681 in a Costa Rican patient with familial hypercholesterolaemia. The frameshift caused by this mutation results in a premature t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9127fad8fa6de1efb7a8429bff60753
https://doi.org/10.1007/s004390050242

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Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease

Autor: Juliette Gafni, Simon C. Warby, Claire-Anne Gutekunst, Lisa M. Ellerby, Yu-Zhou Yang, Donald W. Nicholson, Steven M. Hersch, Roshni R. Singaraja, Odell Loubser, Blair R. Leavitt, Cheryl L. Wellington, Dale E. Bredesen, Michael R. Hayden, Rona K. Graham, Sophie Roy, Daniel A. Rogers, Jeremy M. Van Raamsdonk

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience. 22(18)

Huntington's disease (HD) results from polyglutamine expansion in huntingtin (htt), a protein with several consensus caspase cleavage sites. Despite the identification of htt fragments in the brain, it has not been shown conclusively that htt is clea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dca71b9041a3ae1e941f1038c1887768
https://pubmed.ncbi.nlm.nih.gov/12223539

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Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia

Autor: Maritha J. Kotze, Rochelle Thiart, Odell Loubser, Catherine Boileau, L du Plessis, Russell S. Scott, Jnp de Villiers, C. J. Lintott, Mathilde Varret

Publikováno v: Molecular and cellular probes. 14(5)

Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) are relatively common lipid disorders caused by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (apo B) genes, respectively. Molecular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ab4889609bf5eab5fd9fff17656713
https://pubmed.ncbi.nlm.nih.gov/11040093

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Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa

Autor: Lana du Plessis, Odell Loubser, Leonora Theart, Vanessa M. Hayes, Maritha J. Kotze, Armand V. Peeters, Peter S. Hansen, Greetje de Jong, J. Nico P. de Villiers, Carl J. Lombard, Frederick J. Raal

Publikováno v: Clinical genetics. 54(1)

Three founder-related low-density lipoprotein receptor (LDLR) gene mutations, D154N, D206E and V408M, cause familial hypercholesterolemia (FH) in approximately 90% of South African Afrikaners. Two hundred and twenty-one South African children, from 8

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7a6fe0636dc285dc3cace48711e6317
https://pubmed.ncbi.nlm.nih.gov/9727745

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Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

Autor: Odell Loubser, Maritha J. Kotze, María Rita Santos, Rochelle Thiart, J. Nico P. de Villiers

Publikováno v: Molecular and cellular probes. 11(6)

Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664d581452290a4ec76f4043a2c7591a
https://pubmed.ncbi.nlm.nih.gov/9500809

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CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians

Autor: Leonora Theart, E. Langenhoven, Rochelle Thiart, Krisela Steyn, J. Nico P. de Villiers, Frederick J. Raal, A. David Marais, Maritha J. Kotze, Odell Loubser

Publikováno v: Clinical genetics. 51(6)

Mutation analysis of genomic DNA samples obtained from seven unrelated South African Indians with familial hypercholesterolaemia (FH) revealed two novel and two recurrent missense mutations in the low density lipoprotein receptor (LDLR) gene. The nov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::349bd083101f980aa7e1eb47d3782fcc
https://pubmed.ncbi.nlm.nih.gov/9237502

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