Memento mori. История человеческих достижений в борьбе с неизбежным - Эндрю Дойг
Шрифт:
Интервал:
Закладка:
419
K. Maurer et al. Auguste D and Alzheimer’s disease // The Lancet, 1997, 349. P. 1546–1549.
420
T. G. Beach. The History of Alzheimer’s Disease — 3 Debates // Journal of the History of Medicine and Allied Sciences, 1987, 42. P. 327–349.
421
Ibid.
422
R. Katzman. Prevalence and Malignancy of Alzheimer Disease — A Major Killer // Archives of Neurology, 1976, 33. P. 217, 218.
423
R. H. Swerdlow. Pathogenesis of Alzheimer’s disease // Clinical Interventions in Aging, 2007, 2. P. 347–359.
424
G. G. Glenner and C. W. Wong. Alzheimer’s disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein // Biochemical and Biophysical Research Communications, 1984, 120. P. 885–890.
425
S. N. Chen and G. Parmigiani. Meta-analysis of BRCA1 and BRCA2 penetrance // Journal of Clinical Oncology, 2007, 25. P. 1329–1333.
426
M. N. Braskie et al. Common Alzheimer’s Disease Risk Variant within the CLU Gene Affects White Matter Microstructure in Young Adults // Journal of Neuroscience, 2011, 31. P. 6764–6770.
427
C. C. Liu et al. Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy // Nature Reviews Neurology, 2013, 9. P. 106–118.
428
C. J. Smith et al. Putative Survival Advantages in Young Apolipoprotein ɛ4 Carriers are Associated with Increased Neural Stress // Journal of Alzheimer’s Disease, 2019, 68. P. 885–923.
429
M. Wadman. James Watson’s genome sequenced at high speed // Nature, 2008, 452. P. 788.
430
K. A. Wetterstrand. The Cost of Sequencing a Human Genome, 2020. URL: https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost.
431
M. J. Owen et al. Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome // New England Journal of Medicine, 2021, 384. P. 2159–2161.
432
D. Dimmock et al. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care // American Journal of Human Genetics, 2021, 108. P. 1231–1238.
433
Human Fertilisation and Embryology Authority. Pre-implantation genetic diagnosis (PGD), 2019.
434
T. Jonsson et al. A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline // Nature, 2012, 488. P. 96–99.
435
L. S. Wang et al. Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States // JAMA Neurology, 2015, 72. P. 209–216.
436
S. J. van der Lee et al. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity // Acta Neuropathologica, 2019, 138. P. 237–250.
437
E. Evangelou et al. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits // Nature Genetics, 2018, 50. P. 1412–1425.
438
R. Ray et al. Nicotine Dependence Pharmacogenetics: Role of Genetic Variation in Nicotine-Metabolizing Enzymes // Journal of Neurogenetics, 2009, 23. P. 252–261.
439
G. Alanis-Lobato et al. Frequent loss-of-heterozygosity in CRISPR Cas9-edited early human embryos // Proceedings of the National Academy of Sciences, 2021, 202004832.
440
D. Cyranoski. Russian «CRISPR-baby» scientist has started editing genes in human eggs with goal of altering deaf gene // Nature, 2019, 574. P. 465, 466.
441
R. Stein. Gene-Edited «Supercells» Make Progress In Fight Against Sickle Cell Disease // Shots: Health News from NPR [Online], 2019. https://www.npr.org/sections/health-shots/2019/11/19/780510277/geneedited-supercells-make-progress-in-fight-against-sickle-cell-disease.
442
McKusick-Nathans Institute of Genetic Medicine. Online Mendelian Inheritance in Man, OMIM®, 2021. URL: https://www.omim.org.
443
L. Yengo et al. Meta-analysis of genome-wide association studies for height and body mass index in ∼700,000 individuals of European ancestry // Human Molecular Genetics 2018, 27. P. 3641–3649.
444
J. E. Savage et al. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence // Nature Genetics, 2018, 50. P. 912–919.
445
J. L. H. Down. Observations on an ethnic classification of idiots // Clinical Lecture Reports, London Hospital, 1866, 3. P. 259–262.
446
N. Howard-Jones. On the diagnostic term «Down’s disease» // Medical History, 1979, 23. P. 102–104.
447
G. Allen et al. «MONGOLISM» // The Lancet, 1961, 277. P. 775.
448
T. Cavazza et al. Parental genome unification is highly error-prone in mammalian embryos // Cell, 2021. P. 2860–2877.
449
P. Cerruti Mainardi. Cri du Chat syndrome // Orphanet Journal of Rare Diseases, 2006, 1. P. 33.
450
Five P-Society. Five P-Society Home Page, 2020. URL: https://fivepminus.org.
451
M. Medina et al. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome // Genomics, 2000, 63. P. 157–164.
452
K. Bender. Cri du Chat Syndrome (Cry of the Cat), 2009. http://ji-criduchat.blogspot.com/.
453
K. Oktay et al. Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines // Journal of Pediatric and Adolescent Gynecology, 2016, 29. P. 409–416.
454
Martin Luther King. Stride Toward Freedom: The Montgomery Story. Harper & Brothers: New York, 1958.
455
In Africa: The role of East Africa in the evolution of human diversity, 2021. URL: http://in-africa.org/in-africa-project/.
456
M. M. Lahr et al. Inter-group violence among early Holocene hunter-gatherers of West Turkana, Kenya // Nature, 2016, 529. P. 394.
457
M. M. Lahr.