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| N HowellSummaryAffiliation: University of Texas Medical Branch Country: USA Publications
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Publications
How rapidly does the human mitochondrial genome evolve?N Howell
Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77555 0656, USA
Am J Hum Genet 59:501-9. 1996..When this genealogical approach was applied to the nucleotide sequences of mitochondrial coding regions, the results again indicated a very rapid rate of evolution...
Mitochondrial gene segregation in mammals: is the bottleneck always narrow?N Howell
Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77550
Hum Genet 90:117-20. 1992..One possibility, which reconciles both physical and genetic studies of mammalian mtDNA, is that the unit of mitochondrial segregation is the organelle itself, each containing multiple mtDNA molecules...
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigreesN Howell
Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77550
Am J Hum Genet 49:939-50. 1991..In contrast, this sequence change was not found in any of the 47 non-LHON controls. The possible role of secondary complex I mutations in the etiology of LHON is also addressed in these studies...
Human mitochondrial diseases: answering questions and questioning answersN Howell
Department of Radiation Oncology, University of Texas Medical Branch, Galveston 77555, USA
Int Rev Cytol 186:49-116. 1999..Because mitochondrial genetics differs so strikingly from the Mendelian inheritance of chromosomes, recent research on the origin and subsequent segregation and transmission of mtDNA mutations is reviewed...
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 geneN Howell
Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77550
Am J Hum Genet 47:629-34. 1990..It is hypothesized that LHON may be a syndrome or set of related diseases in which the clinical abnormalities are a function, at least in part, of the mitochondrial Complex I gene in which the proximate mutation occurs...
Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigreesN Howell
Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77755 0656, USA
Genetics 140:285-302. 1995..Instead, the increased frequency is more likely to reflect the population genetic history of secondary mutations relative to that of primary LHON mutations...
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutationN Howell
Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77550
Am J Hum Genet 48:935-42. 1991..The clinical and biochemical phenotypes of the family members indicate that this second nucleotide substitution may function as an intragenic suppressor mutation which ameliorates the neurological abnormalities and complex I deficiency...
Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?N Howell
Department of Radiation Oncology, University of Texas Medical Branch, Galveston 77555, USA
J Bioenerg Biomembr 29:165-73. 1997....
Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerveN Howell
Department of Radiation Therapy, University of Texas Medical Branch, Galveston 77555 0656, USA
Vision Res 37:3495-507. 1997..In contrast, activation of the cell death pathway is less frequent, or less extensive, in 14,484 LHON patients and there is often a substantial recovery of vision...
Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerveN Howell
Department of Radiation Oncology, Department of Human Biological Chemistry and Genetics, University of Texas Medical Branch, Galveston 77555 0656, USA
Vision Res 38:1495-504. 1998....
Transmission of the human mitochondrial genomeN Howell
Department of Radiation Oncology, The University of Texas Medical Branch, Galveston 77555 0656, USA
Hum Reprod 15:235-45. 2000..However, there is also evidence for bias due to incomplete ascertainment of pedigrees and for negative selection of pathogenic mutations in rapidly dividing somatic tissues such as the white blood cell population...
