|
|
|
|
| LEADER |
00000cam a2200000 a 4500 |
| 001 |
SCIDIR_on1176314890 |
| 003 |
OCoLC |
| 005 |
20231120010502.0 |
| 006 |
m o d |
| 007 |
cr |n||||||||| |
| 008 |
200723s2020 enk o 001 0 eng d |
| 040 |
|
|
|a YDX
|b eng
|e pn
|c YDX
|d UKAHL
|d OPELS
|d OCLCF
|d N$T
|d EBLCP
|d OCLCO
|d OCLCQ
|d OCLCO
|d SFB
|d OCLCQ
|d OCLCO
|
| 019 |
|
|
|a 1178649439
|a 1191084056
|
| 020 |
|
|
|a 9780128232699
|q (electronic bk.)
|
| 020 |
|
|
|a 0128232692
|q (electronic bk.)
|
| 020 |
|
|
|z 9780128222270
|
| 020 |
|
|
|z 0128222271
|
| 035 |
|
|
|a (OCoLC)1176314890
|z (OCoLC)1178649439
|z (OCoLC)1191084056
|
| 050 |
|
4 |
|a QH588.S83
|
| 082 |
0 |
4 |
|a 616.02/774
|2 23
|
| 245 |
0 |
0 |
|a Recent advances in IPSC disease modeling.
|n Volume 1 /
|c edited by Alexander Birbrair.
|
| 260 |
|
|
|a London, United Kingdom :
|b Academic Press,
|c 2020.
|
| 300 |
|
|
|a 1 online resource
|
| 336 |
|
|
|a text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a computer
|b c
|2 rdamedia
|
| 338 |
|
|
|a online resource
|b cr
|2 rdacarrier
|
| 490 |
1 |
|
|a Advances in stem cell biology
|
| 500 |
|
|
|a Includes index.
|
| 505 |
0 |
|
|a Front Cover -- Recent Advances in iPSC Disease Modeling, Volume 1 -- Recent Advances in iPSC Disease Modeling, Volume 1 -- Copyright -- Dedication -- Contents -- Contributors -- About the Editor -- Preface -- 1 -- iPSCs for modeling lysosomal storage diseases -- Introduction -- Lipid storage disorders -- GM2 gangliosides -- Tay-Sachs disease -- Sandhoff disease -- Other gangliosidoses -- GM1 gangliosidosis -- Sphingolipidosis -- Niemann-Pick disease -- Metachromatic leukodystrophy -- Gaucher disease -- Fabry disease -- Neuronal ceroid lipofuscinoses -- Other lipid storage disorders
|
| 505 |
8 |
|
|a Lysosomal acid lipase deficiency -- Mucopolysaccharidosis -- Lysosomal transport diseases -- Cystinosis -- Glycogenosis type II -- Pompe disease -- Danon disease -- Conclusion and future perspectives -- References -- 2 -- Sickle cell anemia: HBB haplotypes -- clinical heterogeneity -- iPSC modeling -- Introduction -- Haplotypes of the HbS gene -- Regulation of gene expression in the HBB gene cluster: hemoglobin switching -- Clinical heterogeneity -- The Arab-Indian haplotype: cis- and trans-acting HbF regulation and clinical phenotypes -- Saudi Benin and Cameroon haplotypes
|
| 505 |
8 |
|
|a Induced pluripotent stem cells and sickle cell anemia -- Conclusions -- References -- 3 -- iPSCs for modeling mtDNA diseases -- Introduction -- mtDNA diseases -- Clinical pathologies of mtDNA diseases -- MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) -- MERRF (Myoclonic epilepsy with ragged red fibers) -- MIDD (Maternally inherited diabetes and deafness) -- NARP (Neuropathy, ataxia and retinitis pigmentosa) -- Leigh syndrome -- LHON (Leber hereditary optic neuropathy) -- KSS (Kearns-Sayre syndrome)
|
| 505 |
8 |
|
|a CPEO (Chronic progressive external ophthalmoplegia) and PEO (Progressive external ophthalmoplegia) -- Pearson syndrome -- Heteroplasmy -- Model systems for mtDNA disease -- Advantages and limitations of iPSCs in evaluating mtDNA diseases -- iPSC models for mtDNA diseases -- Dynamics of the mtDNA mutation during reprogramming and in the iPSCs -- Mechanistic studies on iPSCs from MELAS patients -- Studies with iPSCs from mtDNA disease patients with neurological disease -- Studies with iPSCs from mtDNA disease patients with cardiac disease -- Studies with other cell types
|
| 650 |
|
0 |
|a Stem cells.
|
| 650 |
|
2 |
|a Stem Cells
|0 (DNLM)D013234
|
| 650 |
|
6 |
|a Cellules souches.
|0 (CaQQLa)201-0058821
|
| 650 |
|
7 |
|a Stem cells
|2 fast
|0 (OCoLC)fst01132975
|
| 700 |
1 |
|
|a Birbrair, Alexander.
|
| 776 |
0 |
8 |
|i Print version:
|z 0128222271
|z 9780128222270
|w (OCoLC)1160614152
|
| 830 |
|
0 |
|a Advances in stem cell biology.
|
| 856 |
4 |
0 |
|u https://sciencedirect.uam.elogim.com/science/book/9780128222270
|z Texto completo
|
