Zobrazeno 1 - 10
of 16
pro vyhledávání: '"M. T. Lott"'
Autor:
M. T. Lott, Xiaowu Gai, Jeremy Leipzig, Marni J. Falk, Daniel Navarro-Gomez, Alphons P. M. Stassen, Janey L. Wiggs, Mannis van Oven, Lishuang Shen, Douglas C. Wallace
Publikováno v:
Bioinformatics, 31(8), 1310-1312. Oxford University Press
Motivation: All current mitochondrial haplogroup classification tools require variants to be detected from an alignment with the reference sequence and to be properly named according to the canonical nomenclature standards for describing mitochondria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d449ace95961cfdac85e408fb1013ef
https://pure.eur.nl/en/publications/9f7ddbab-c084-4914-8bcb-fdf6ee21955d
https://pure.eur.nl/en/publications/9f7ddbab-c084-4914-8bcb-fdf6ee21955d
Autor:
M. G. Bialer, S. G. Pavlakis, Douglas C. Wallace, J. Dixon, Allan Kaufman, M. T. Lott, John M. Shoffner, S. Teichberg
Publikováno v:
Neurology. 45:286-292
Article abstract—The investigation of pathogenic mitochondrial DNA (mtDNA) mutations has revealed a complex relation between patient genotype and phenotype. For unknown reasons, some mtDNA mutations produce specific clinical manifestations such as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93026f958bdc87ad865988314c1fae77
https://doi.org/10.1212/wnl.45.2.286
https://doi.org/10.1212/wnl.45.2.286
Autor:
Marisol Corral-Debrinski, Terzah M. Horton, Douglas C. Wallace, M. T. Lott, M F Beal, Ann C. McKee, Brett H. Graham, John M. Shoffner
Publikováno v:
Genomics. 23:471-476
Levels of the common 4977 nucleotide pair (np) mitochondrial DNA (mtDNA) deletion (mtDNA4977) were quantitated in the cortex, putamen, and cerebellum of patients with Alzheimer disease (AD) and compared to age-matched controls. Although cerebellum de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d106d8d3b3ef4128c192361cfb32ac1
https://doi.org/10.1006/geno.1994.1525
https://doi.org/10.1006/geno.1994.1525
Publikováno v:
Human mutation. 5(4)
Genetic predisposition, particularly specific mitochondrial DNA (mtDNA) backgrounds, has been proposed as a contributing factor in the expression of an epidemic of bilateral optic neuropathy that has affected residents of Cuba since 1991. To substant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7dce01361646639145be08407eaa7359
https://pubmed.ncbi.nlm.nih.gov/7627185
https://pubmed.ncbi.nlm.nih.gov/7627185
Publikováno v:
American journal of human genetics. 55(4)
mtDNA sequence variation was examined in 175 Caucasians from the United States and Canada by PCR amplification and high-resolution restriction-endonuclease analysis. The majority of the Caucasian mtDNAs were subsumed within four mtDNA lineages (haplo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::96396293dbd03c29167cb5424f4cc6eb
https://pubmed.ncbi.nlm.nih.gov/7942855
https://pubmed.ncbi.nlm.nih.gov/7942855
Publikováno v:
American journal of ophthalmology. 118(2)
An epidemic neuropathy in Cuba has caused bilateral optic neuropathies in more than 26,000 people during the past three years. Various pathogenetic factors have been proposed, including toxins, nutritional deficiencies, and an underlying genetic pred
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2968f691d4e8633b622a36da482829e0
https://pubmed.ncbi.nlm.nih.gov/8053461
https://pubmed.ncbi.nlm.nih.gov/8053461
Autor:
A, Torroni, Y S, Chen, O, Semino, A S, Santachiara-Beneceretti, C R, Scott, M T, Lott, M, Winter, D C, Wallace
Publikováno v:
American journal of human genetics. 54(2)
mtDNA sequence variation was examined in 60 Native Americans (Mixtecs from the Alta, Mixtecs from the Baja, Valley Zapotecs, and Highland Mixe) from southern Mexico by PCR amplification and high-resolution restriction endonuclease analysis. Four grou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::409453598ae9146f02bafdb709393bfe
https://pubmed.ncbi.nlm.nih.gov/7726181
https://pubmed.ncbi.nlm.nih.gov/7726181
Autor:
Michael D. Brown, Rem I. Sukernik, Olga Derbeneva, M. T. Lott, N. V. Volodko, IY Bychkov, Irina E. Mikhailovskaya, Douglas C. Wallace, Elena B. Starikovskaya
Publikováno v:
Journal of the Peripheral Nervous System. 7:211-212
To date, more than 100 point mutations and several hundreds of structural rearrangements of mitochondrial DNA (mtDNA) are known too be connected with characteristic neuromuscular and other mitochondrial syndromes varying from those causing death at t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1be37dda38208abb15a5a798a1ef4cc1
https://doi.org/10.1046/j.1529-8027.2002.02026_25.x
https://doi.org/10.1046/j.1529-8027.2002.02026_25.x
Publikováno v:
American journal of human genetics. 51(2)
A G-to-A transition at nucleotide pair (np) 7444 in the mtDNA was found to correlate with Leber hereditary optic neuropathy (LHON). The mutation eliminates the termination codon of the cytochrome c oxidase subunit I (COI) gene, extending the COI poly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::de2491a3fe34c900c2134b20b7131b50
https://pubmed.ncbi.nlm.nih.gov/1322638
https://pubmed.ncbi.nlm.nih.gov/1322638
Publikováno v:
Journal of clinical neuro-ophthalmology. 12(1)
Five patients with Leber's hereditary optic neuropathy (LHON) and the 11778 mitochondrial mutation spontaneously recovered 20/40 or better visual acuity in at least one eye after months to years of legal blindness. The patients ranged in age from 9 t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab5d5fd474c6f525c5b8502d555a442a
https://pubmed.ncbi.nlm.nih.gov/1532593
https://pubmed.ncbi.nlm.nih.gov/1532593