Doenças de repetição de trinucleotídeos (Portuguese Wikipedia)

Analysis of information sources in references of the Wikipedia article "Doenças de repetição de trinucleotídeos" in Portuguese language version.

refsWebsite

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19nih.gov

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16doi.org

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2harvard.edu

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1sciencedirect.com

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doi.org

dx.doi.org

Orr, HT; Zoghbi, HY (2007). «Trinucleotide repeat disorders». Annual Review of Neuroscience. 30 (1): 575–621. PMID 17417937. doi:10.1146/annurev.neuro.29.051605.113042
Adegbuyiro, A; Sedighi, F; Pilkington, AW; Groover, S; Legleiter, J (Março de 2017). «Proteins Containing Expanded Polyglutamine Tracts and Neurodegenerative Disease». Biochemistry. 56 (9): 1199–1217. PMC 5727916. PMID 28170216. doi:10.1021/acs.biochem.6b00936
Laskaratos, A; Breza, M; Karadima, G; Koutsis, G (Junho de 2021). «Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach». Journal of Medical Genetics. 58 (6): 385–391. PMID 32571900. doi:10.1136/jmedgenet-2020-106963
Gao, FB; Richter, JD (Janeiro de 2017). «Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation». Neuron. 93 (2): 249–251. PMID 28103472. doi:10.1016/j.neuron.2017.01.001
LaCroix, AJ; Stabley, D; Sahraoui, R; Adam, MP; Mehaffey, M; Kernan, K; Myers, CT; Fagerstrom, C; Anadiotis, G; Akkari, YM; Robbins, KM; Gripp, KW; Baratela, WA; Bober, MB; Duker, AL; Doherty, D; Dempsey, JC; Miller, DG; Kircher, M; Bamshad, MJ; Nickerson, DA; Mefford, HC; Sol-Church, K (Janeiro de 2019). «GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome». American Journal of Human Genetics. 104 (1): 35–44. PMC 6323552. PMID 30554721. doi:10.1016/j.ajhg.2018.11.005
Srivastava, AK; Takkar, A; Garg, A; Faruq, M (Janeiro de 2017). «Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B». Brain. 140 (1): 27–36. PMID 27864267. doi:10.1093/brain/aww269
O'Hearn E, Holmes SE, Margolis RL (1 de janeiro de 2012). «Chapter 34 - Spinocerebellar ataxia type 12». In: Subramony SH, Dürr A. Handbook of Clinical Neurology (em inglês). 103. [S.l.]: Elsevier. pp. 535–547. ISBN 9780444518927. PMID 21827912. doi:10.1016/b978-0-444-51892-7.00034-6. Consultado em 7 de dezembro de 2022
Adegbuyiro, A; Sedighi, F; Pilkington, AW; Groover, S; Legleiter, J (Março de 2017). «Proteins Containing Expanded Polyglutamine Tracts and Neurodegenerative Disease». Biochemistry. 56 (9): 1199–1217. PMC 5727916. PMID 28170216. doi:10.1021/acs.biochem.6b00936
Fan, HC; Ho, LI; Chi, CS; Chen, SJ; Peng, GS; Chan, TM; Lin, SZ; Harn, HJ (maio de 2014). «Polyglutamine (PolyQ) diseases: genetics to treatments». Cell Transplantation. 23 (4–5): 441–458. PMID 24816443. doi:10.3727/096368914X678454
Sanders, DW; Brangwynne, CP (junho de 2017). «Neurodegenerative disease: RNA repeats put a freeze on cells». Nature. 546 (7657): 215–216. Bibcode:2017Natur.546..215S. PMID 28562583. doi:10.1038/nature22503
Walker, FO (janeiro de 2007). «Huntington's disease». Lancet. 369 (9557): 218–228. PMID 17240289. doi:10.1016/S0140-6736(07)60111-1
Mirkin, SM (junho de 2007). «Expandable DNA repeats and human disease». Nature. 447 (7147): 932–940. Bibcode:2007Natur.447..932M. PMID 17581576. doi:10.1038/nature05977
Usdin, K; House, NC; Freudenreich, CH (2015). «Repeat instability during DNA repair: Insights from model systems». Critical Reviews in Biochemistry and Molecular Biology. 50 (2): 142–167. PMC 4454471. PMID 25608779. doi:10.3109/10409238.2014.999192
Petruska, J; Hartenstine, MJ; Goodman, MF (fevereiro de 1998). «Analysis of strand slippage in DNA polymerase expansions of CAG/CTG triplet repeats associated with neurodegenerative disease». The Journal of Biological Chemistry. 273 (9): 5204–5210. PMID 9478975. doi:10.1074/jbc.273.9.5204
McIvor, EI; Polak, U; Napierala, M (2010). «New insights into repeat instability: role of RNA•DNA hybrids». RNA Biology. 7 (5): 551–558. PMC 3073251. PMID 20729633. doi:10.4161/rna.7.5.12745
Salinas-Rios, V; Belotserkovskii, BP; Hanawalt, PC (setembro de 2011). «DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instability». Nucleic Acids Research. 39 (17): 7444–7454. PMC 3177194. PMID 21666257. doi:10.1093/nar/gkr429

harvard.edu

ui.adsabs.harvard.edu

Sanders, DW; Brangwynne, CP (junho de 2017). «Neurodegenerative disease: RNA repeats put a freeze on cells». Nature. 546 (7657): 215–216. Bibcode:2017Natur.546..215S. PMID 28562583. doi:10.1038/nature22503
Mirkin, SM (junho de 2007). «Expandable DNA repeats and human disease». Nature. 447 (7147): 932–940. Bibcode:2007Natur.447..932M. PMID 17581576. doi:10.1038/nature05977

nih.gov

ncbi.nlm.nih.gov

Orr, HT; Zoghbi, HY (2007). «Trinucleotide repeat disorders». Annual Review of Neuroscience. 30 (1): 575–621. PMID 17417937. doi:10.1146/annurev.neuro.29.051605.113042
Paulson H. Repeat expansion diseases. Handb Clin Neurol. 2018;147:105-123. doi: 10.1016/B978-0-444-63233-3.00009-9. PMID: 29325606; PMCID: PMC6485936.
Ramakrishnan S, Gupta V. Trinucleotide Repeat Disorders. [Updated 2022 Aug 1]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. NCBI
Adegbuyiro, A; Sedighi, F; Pilkington, AW; Groover, S; Legleiter, J (Março de 2017). «Proteins Containing Expanded Polyglutamine Tracts and Neurodegenerative Disease». Biochemistry. 56 (9): 1199–1217. PMC 5727916. PMID 28170216. doi:10.1021/acs.biochem.6b00936
Laskaratos, A; Breza, M; Karadima, G; Koutsis, G (Junho de 2021). «Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach». Journal of Medical Genetics. 58 (6): 385–391. PMID 32571900. doi:10.1136/jmedgenet-2020-106963
Gao, FB; Richter, JD (Janeiro de 2017). «Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation». Neuron. 93 (2): 249–251. PMID 28103472. doi:10.1016/j.neuron.2017.01.001
LaCroix, AJ; Stabley, D; Sahraoui, R; Adam, MP; Mehaffey, M; Kernan, K; Myers, CT; Fagerstrom, C; Anadiotis, G; Akkari, YM; Robbins, KM; Gripp, KW; Baratela, WA; Bober, MB; Duker, AL; Doherty, D; Dempsey, JC; Miller, DG; Kircher, M; Bamshad, MJ; Nickerson, DA; Mefford, HC; Sol-Church, K (Janeiro de 2019). «GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome». American Journal of Human Genetics. 104 (1): 35–44. PMC 6323552. PMID 30554721. doi:10.1016/j.ajhg.2018.11.005
Srivastava, AK; Takkar, A; Garg, A; Faruq, M (Janeiro de 2017). «Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B». Brain. 140 (1): 27–36. PMID 27864267. doi:10.1093/brain/aww269
O'Hearn E, Holmes SE, Margolis RL (1 de janeiro de 2012). «Chapter 34 - Spinocerebellar ataxia type 12». In: Subramony SH, Dürr A. Handbook of Clinical Neurology (em inglês). 103. [S.l.]: Elsevier. pp. 535–547. ISBN 9780444518927. PMID 21827912. doi:10.1016/b978-0-444-51892-7.00034-6. Consultado em 7 de dezembro de 2022
Adegbuyiro, A; Sedighi, F; Pilkington, AW; Groover, S; Legleiter, J (Março de 2017). «Proteins Containing Expanded Polyglutamine Tracts and Neurodegenerative Disease». Biochemistry. 56 (9): 1199–1217. PMC 5727916. PMID 28170216. doi:10.1021/acs.biochem.6b00936
Fan, HC; Ho, LI; Chi, CS; Chen, SJ; Peng, GS; Chan, TM; Lin, SZ; Harn, HJ (maio de 2014). «Polyglutamine (PolyQ) diseases: genetics to treatments». Cell Transplantation. 23 (4–5): 441–458. PMID 24816443. doi:10.3727/096368914X678454
Sanders, DW; Brangwynne, CP (junho de 2017). «Neurodegenerative disease: RNA repeats put a freeze on cells». Nature. 546 (7657): 215–216. Bibcode:2017Natur.546..215S. PMID 28562583. doi:10.1038/nature22503
Walker, FO (janeiro de 2007). «Huntington's disease». Lancet. 369 (9557): 218–228. PMID 17240289. doi:10.1016/S0140-6736(07)60111-1
Mirkin, SM (junho de 2007). «Expandable DNA repeats and human disease». Nature. 447 (7147): 932–940. Bibcode:2007Natur.447..932M. PMID 17581576. doi:10.1038/nature05977
Usdin, K; House, NC; Freudenreich, CH (2015). «Repeat instability during DNA repair: Insights from model systems». Critical Reviews in Biochemistry and Molecular Biology. 50 (2): 142–167. PMC 4454471. PMID 25608779. doi:10.3109/10409238.2014.999192
Petruska, J; Hartenstine, MJ; Goodman, MF (fevereiro de 1998). «Analysis of strand slippage in DNA polymerase expansions of CAG/CTG triplet repeats associated with neurodegenerative disease». The Journal of Biological Chemistry. 273 (9): 5204–5210. PMID 9478975. doi:10.1074/jbc.273.9.5204
McIvor, EI; Polak, U; Napierala, M (2010). «New insights into repeat instability: role of RNA•DNA hybrids». RNA Biology. 7 (5): 551–558. PMC 3073251. PMID 20729633. doi:10.4161/rna.7.5.12745
Salinas-Rios, V; Belotserkovskii, BP; Hanawalt, PC (setembro de 2011). «DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instability». Nucleic Acids Research. 39 (17): 7444–7454. PMC 3177194. PMID 21666257. doi:10.1093/nar/gkr429

rarediseases.info.nih.gov

«Fragile XE syndrome». Genetic and Rare Diseases Information Center (GARD). Consultado em 14 de Setembro de 2012

sciencedirect.com

O'Hearn E, Holmes SE, Margolis RL (1 de janeiro de 2012). «Chapter 34 - Spinocerebellar ataxia type 12». In: Subramony SH, Dürr A. Handbook of Clinical Neurology (em inglês). 103. [S.l.]: Elsevier. pp. 535–547. ISBN 9780444518927. PMID 21827912. doi:10.1016/b978-0-444-51892-7.00034-6. Consultado em 7 de dezembro de 2022