|
1
|
Letourneau A, Santoni FA, Bonilla X,
Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom
RS, Hibaoui Y, et al: Domains of genome-wide gene expression
dysregulation in Down's syndrome. Nature. 508:345–350.
2014.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Pontecorvo G: Induction of directional
chromosome elimination in somatic cell hybrids. Nature.
230:367–369. 1971.PubMed/NCBI View
Article : Google Scholar
|
|
3
|
Lewandoski M and Martin GR: Cre-mediated
chromosome loss in mice. Nat Genet. 17:223–225. 1997.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Matsumura H, Tada M, Otsuji T, Yasuchika
K, Nakatsuji N, Surani A and Tada T: Targeted chromosome
elimination from ES-somatic hybrid cells. Nat Methods. 4:23–25.
2007.PubMed/NCBI View
Article : Google Scholar
|
|
5
|
Li LB, Chang KH, Wang PR, Hirata RK,
Papayannopoulou T and Russell DW: Trisomy correction in Down
syndrome induced pluripotent stem cells. Cell Stem Cell.
11:615–619. 2012.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Jiang J, Jing Y, Cost GJ, Chiang JC, Kolpa
HJ, Cotton AM, Carone DM, Carone BR, Shivak DA, Guschin DY, et al:
Translating dosage compensation to trisomy 21. Nature. 500:296–300.
2013.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Brown CJ, Ballabio A, Rupert JL,
Lafreniere RG, Grompe M, Tonlorenzi R and Willard HF: A gene from
the region of the human X inactivation centre is expressed
exclusively from the inactive X chromosome. Nature. 349:38–44.
1991.PubMed/NCBI View
Article : Google Scholar
|
|
8
|
Brockdorff N, Ashworth A, Kay GF, McCabe
VM, Norris DP, Cooper PJ, Swift S and Rastan S: The product of the
mouse Xist gene is a 15 kb inactive X-specific transcript
containing no conserved ORF and located in the nucleus. Cell.
71:515–526. 1992.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Chang SC, Tucker T, Thorogood NP and Brown
CJ: Identification of regulatory elements flanking human XIST using
DNase I hypersensitivity mapping. BMC Mol Biol.
11(20)2010.PubMed/NCBI View Article : Google Scholar :
doi:10.1186/1471-2199-11-20.
|
|
10
|
Clemson CM, McNeil JA, Willard HF and
Lawrence JB: XIST RNA paints the inactive X chromosome at
interphase: Evidence for a novel RNA involved in nuclear/chromosome
structure. J Cell Biol. 132:259–275. 1996.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Penny GD, Kay GF, Sheardown SA, Rastan S
and Brockdorff N: Requirement for Xist in X chromosome
inactivation. Nature. 379:131–137. 1996.PubMed/NCBI View
Article : Google Scholar
|
|
12
|
Marahrens Y, Panning B, Dausman J, Strauss
W and Jaenisch R: Xist-deficient mice are defective in dosage
compensation but not spermatogenesis. Genes Dev. 11:156–166.
1997.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Wutz A and Jaenisch R: A shift from
reversible to irreversible X inactivation is triggered during ES
cell differentiation. Mol Cell. 5:695–705. 2000.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Chiang JC, Jiang J, Newburger PE and
Lawrence JB: Trisomy silencing by XIST normalizes Down syndrome
cell pathogenesis demonstrated for hematopoietic defects in vitro.
Nat Commun. 9(5180)2018.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Czermiński JT and Lawrence JB: Silencing
trisomy 21 with XIST in neural stem cells promotes neuronal
differentiation. Dev Cell. 52:294–308.e3. 2020.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Deshpande T, Kaushik PB, Shaikh R and
Tilak AV: Noncoding RNA therapeutics: Pioneering a new frontier.
Res J Pharm Technol. 17:3933–3935. 2024.
|
|
17
|
Jinek M, Chylinski K, Fonfara I, Hauer M,
Doudna JA and Charpentier E: A programmable dual-RNA-guided DNA
endonuclease in adaptive bacterial immunity. Science. 337:816–821.
2012.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Cong L, Ran FA, Cox D, Lin S, Barretto R,
Habib N, Hsu PD, Wu X, Jiang W, Marraffini LA and Zhang F:
Multiplex genome engineering using CRISPR/Cas systems. Science.
339:819–823. 2013.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Mali P, Yang L, Esvelt KM, Aach J, Guell
M, DiCarlo JE, Norville JE and Church GM: RNA-guided human genome
engineering via Cas9. Science. 339:823–826. 2013.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Hashizume R, Wakita S, Sawada H,
Takebayashi SI, Kitabatake Y, Miyagawa Y, Hirokawa YS, Imai H and
Kurahashi H: Trisomic rescue via allele-specific multiple
chromosome cleavage using CRISPR-Cas9 in trisomy 21 cells. PNAS
Nexus. 4(pgaf022)2025.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Zuccaro MV, Xu J, Mitchell C, Marin D,
Zimmerman R, Rana B, Weinstein E, King RT, Palmerola KL, Smith ME,
et al: Allele-specific chromosome removal after Cas9 cleavage in
human embryos. Cell. 183:1650–1664.e15. 2020.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Dawood AA and Jasim BI: The CRISPR Genome
Editing Process is an Effective Advancement of Short-Term Cancer
Treatment. RJPT. 13:54–56. 2021.DOI:
10.5958/0975-4377.2021.00009.4.
|
|
23
|
Page MJ, McKenzie JE, Bossuyt PM, Boutron
I, Hoffmann TC, Mulrow CD, Shamseer L, Tetzlaff JM, Akl EA, Brennan
SE, et al: The PRISMA 2020 statement: An updated guideline for
reporting systematic reviews. BMJ. 372(n71)2021.
|
|
24
|
Zuo E, Huo X, Yao X, Hu X, Sun Y, Yin J,
He B, Wang X, Shi L, Ping J, et al: CRISPR/Cas9-mediated targeted
chromosome elimination. Genome Biol. 18(224)2017.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Inoue M, Kajiwara K, Yamaguchi A, Kiyono
T, Samura O, Akutsu H, Sago H, Okamoto A and Umezawa A: Autonomous
trisomic rescue of Down syndrome cells. Lab Invest. 99:885–897.
2019.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Murray A, Letourneau A, Canzonetta C,
Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S,
Baldo C, et al: Isogenic induced pluripotent stem cell lines from
an adult with mosaic Down syndrome model accelerated neuronal
ageing and neurodegeneration. Stem Cells. 33:2077–2084.
2015.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Ihry RJ, Worringer KA, Salick MR, Frias E,
Ho D, Theriault K, Kommineni S, Chen J, Sondey M, Ye C, et al: p53
inhibits CRISPR-Cas9 engineering in human pluripotent stem cells.
Nat Med. 24:939–946. 2018.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Tao J, Bauer DE and Chiarle R: Assessing
and advancing the safety of CRISPR-Cas tools: From DNA to RNA
editing. Nat Commun. 14(212)2023.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Raguram A, Banskota S and Liu DR:
Therapeutic in vivo delivery of gene editing agents. Cell.
185:2806–1827. 2022.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Komor AC, Kim YB, Packer MS, Zuris JA and
Liu DR: Programmable editing of a target base in genomic DNA
without double-stranded DNA cleavage. Nature. 533:420–424.
2016.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Anzalone AV, Randolph PB, Davis JR, Sousa
AA, Koblan LW, Levy JM, Chen PJ, Wilson C, Newby GA, Raguram A and
Liu DR: Search-and-replace genome editing without double-strand
breaks or donor DNA. Nature. 576:149–157. 2019.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Klompe SE, Vo PLH, Halpin-Healy TS and
Sternberg SH: Transposon-encoded CRISPR-Cas systems direct
RNA-guided DNA integration. Nature. 571:219–225. 2019.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Gilbert LA, Larson MH, Morsut L, Liu Z,
Brar GA, Torres SE, Stern-Ginossar N, Brandman O, Whitehead EH,
Doudna JA, et al: CRISPR-mediated modular RNA-guided regulation of
transcription in eukaryotes. Cell. 154:442–451. 2013.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Thakore PI, Black JB, Hilton IB and
Gersbach CA: Editing the epigenome: Technologies for programmable
transcription and epigenetic modulation. Nat Methods. 13:127–137.
2016.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Baylis F, Darnovsky M, Hasson K and Krahn
TM: Human germ line and heritable genome editing: The global policy
landscape. CRISPR J. 3:365–377. 2020.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Egawa M, Uno N, Komazaki R, Ohkame Y,
Yamazaki K, Yoshimatsu C, Ishizu Y, Okano Y, Miyamoto H, et al:
Generation of monosomy 21q human iPS cells by CRISPR/Cas9-mediated
interstitial megabase deletion. Genes Cells.
30(e13184)2025.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Kumar AS and Reddy PB: A review of the
state of drug development for uncommon diseases and its future
potential. Res J Pharm Technol. 17:2405–2408. 2024.
|
|
38
|
Cullot G, Boutin J, Toutain J, Prat F,
Pennamen P, Rooryck C, Teichmann M, Rousseau E, Lamrissi-Garcia I,
Guyonnet-Duperat V, et al: CRISPR-Cas9 genome editing induces
megabase-scale chromosomal truncations. Nat Commun.
10(1136)2019.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Mishra NK, Mishra A, Sahoo PK and
Priyadarshini R: Current treatment process and challenges for
spinal muscular atrophy (SMA). Res J Pharm Technol. 17:3730–3738.
2024.
|