2001 William Allan award address from down syndrome to the "Human" in "Human Genetics"

American Journal of Human Genetics

Volumn 70, Issue 2, 2002, Pages 300-313

  Epstein, Charles J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 21; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONFERENCE PAPER; DISEASE MODEL; DOWN SYNDROME; EXPERIMENTAL MOUSE; HUMAN GENETICS; MEDICAL RESEARCH; MOLECULAR CLONING; PHENOTYPE; PRIORITY JOURNAL; TRISOMY 16; TRISOMY 21;

EID: 0036155180     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/338915     Document Type: Conference Paper

References (52)

1. Ts65Dn: Localization of the translocation breakpoint and trisomic gene content in a mouse model for Down syndrome
2. Principles that govern the folding of protein chains
3. Delayed thymocyte maturation in the trisomy 16 mouse fetus
4. Lactate dehydrogenase activity in the preimplanted mouse embryo
5. Glucose-6-phosphate dehydrogenase activity in the preimplanted mouse embryo
6. Cell surface changes during preimplantation development in the mouse
7. Acute thermal and mechanical nociceptive responses in Ts65Dn mice, a mouse model for Down syndrome
8. Failed retrograde transport of NGF in a mouse model of Down's syndrome: Reversal of cholinergic neurodegenerative phenotypes following NGF infusion
9. Behavioral assessment of the Ts65Dn mouse, a model for Down syndrome: Altered behavior in the elevated plus maze and the open field
10. Genes coding for sensitivity to interferon (IfRec) and soluble superoxide dismutase (SOD-1) are linked in mouse and man and map to mouse chromosome 16
11. Cost and effectiveness of the California triple marker prenatal screening program
12. Mammalian oocytes: X-chromosome activity
13. Expression of the mammalian X-chromosome before and after fertilization
14. Inactivation of the X-chromosome
15. ASHG Presidential address: Toward the 21st century
16. Down syndrome (trisomy 21)
17. Transgenic mice with increased CuZn-superoxide dismutase activity: An animal model of dosage effects in Down syndrome
18. The genetic control of tertiary protein structure: Studies with model systems
19. Stem cell deficiencies and thymic abnormalities in fetal mouse trisomy 16
20. Werner's syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process
21. Direct evidence that the gene product of the human chromosome 21 locus, IFRC, is the interferon-α receptor
22. Both X-chromosomes function prior to visible X-chromosome inactivation in female mouse embryos
23. Production of viable adult trisomy 17 ↔ diploid mouse chimeras
24. Localization of the gene AVG for the antiviral expression of immune and classical interferon to the distal portion of the long arm of chromosome 21
25. Enhanced sensitivity of trisomy 21 monocytes to the maturation-inhibiting effects of interferon
26. Copper/zinc superoxide dismutase transgenic brain accumulates hydrogen peroxide after perinatal hypoxia ischemia
27. Transgenic models for chromosome 21 gene dosage effects
28. Systematic approach to the study of trisomy in the mouse. II
29. Nerve growth factor reverses neuronal atrophy in a Down syndrome model of age-related neurodegeneration
30. Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome
31. Ubiquitous overexpression of CuZn superoxide dismutase does not extend life span in mice
32. The use of transgenic and mutant mice to study oxygen free radical metabolism
33. The molecular biology of memory storage: A dialogue between genes and synapses
34. Down syndrome phenotypes: The consequences of chromosome imbalance
35. The William Allan Memorial Award lecture: On the nature of man
36. A murine model for Down syndrome shows reduced responsiveness to pain
37. Allophenic mice of multi-embryo origin
38. The disability rights critique of prenatal genetic testing: Reflections and recommendations
39. Too much of a good thing: Mechanisms of gene action in Down syndrome
40. A mouse model for Down syndrome exhibits learning and behavior deficits
41. Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice
42. Craniofacial anomalies in segmentally trisomic mouse models for Down syndrome
43. Ts1Cje, a new partial trisomy mouse model for Down syndrome, exhibits learning and behavioral abnormalities
44. Genetic dissection of the region associated with behavioral abnormalities in mouse models of Down syndrome
45. Replication rate and lifespan of cultured fibroblasts in Down's syndrome
46. Increased synaptic depression in the Ts65Dn mouse, a model for mental retardation in Down syndrome
47. Metabolism of oxygen derivatives in Down's syndrome
48. The linkage of genes for the human interferon-induced antiviral protein and indophenoloxidase-B traits to chromosome G-21
49. Synthesis of interferon-induced polypeptides in normal and chromosome 21-aneuploid human fibroblasts: Relationship to relative sensitivities in antiviral assays
50. Positional cloning of the Werner's syndrome gene