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Quoted phrase not found in phrase index: "Chromosome 4Q32.1-q32.2 triplication syndrome"
Page 1
Down syndrome.
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Antonarakis SE, et al. Nat Rev Dis Primers. 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7. Nat Rev Dis Primers. 2020. PMID: 32029743 Free PMC article. Review.
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). ...Mouse models of DS, involving trisomy of all or part of human chromosome 21 or orthologous mouse genomic regions, …
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syn …
Incontinence in persons with Down Syndrome.
Niemczyk J, von Gontard A, Equit M, Medoff D, Wagner C, Curfs L. Niemczyk J, et al. Neurourol Urodyn. 2017 Aug;36(6):1550-1556. doi: 10.1002/nau.23146. Epub 2016 Oct 4. Neurourol Urodyn. 2017. PMID: 27701769
AIMS: To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome, a genetic syndrome caused by partial or complete triplication (trisomy) of chromosome 21 and characterized by typica …
AIMS: To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome …
Trisomy 21 impairs PGE2 production in dermal fibroblasts.
Marentette JO, Anderson CC, Prutton KM, Jennings EQ, Rauniyar AK, Galligan JJ, Roede JR. Marentette JO, et al. Prostaglandins Other Lipid Mediat. 2021 Apr;153:106524. doi: 10.1016/j.prostaglandins.2020.106524. Epub 2021 Jan 5. Prostaglandins Other Lipid Mediat. 2021. PMID: 33418267 Free PMC article.
The triplication of human chromosome 21 results in Down syndrome (DS), the most common genetic form of intellectual disability. ...
The triplication of human chromosome 21 results in Down syndrome (DS), the most common genetic form of intellectual dis …
Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjogren's Syndrome.
Sharma R, Harris VM, Cavett J, Kurien BT, Liu K, Koelsch KA, Fayaaz A, Chaudhari KS, Radfar L, Lewis D, Stone DU, Kaufman CE, Li S, Segal B, Wallace DJ, Weisman MH, Venuturupalli S, Kelly JA, Pons-Estel B, Jonsson R, Lu X, Gottenberg JE, Anaya JM, Cunninghame-Graham DS, Huang AJW, Brennan MT, Hughes P, Alevizos I, Miceli-Richard C, Keystone EC, Bykerk VP, Hirschfield G, Nordmark G, Bucher SM, Eriksson P, Omdal R, Rhodus NL, Rischmueller M, Rohrer M, Wahren-Herlenius M, Witte T, Alarcón-Riquelme M, Mariette X, Lessard CJ, Harley JB, Ng WF, Rasmussen A, Sivils KL, Scofield RH. Sharma R, et al. Arthritis Rheumatol. 2017 Nov;69(11):2187-2192. doi: 10.1002/art.40207. Epub 2017 Oct 12. Arthritis Rheumatol. 2017. PMID: 28692793 Free PMC article.
Among ~2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in the 47,XXX cells. Neither the triple mosaic nor the partial triplication was found among the controls. In another SS cohort, we found a …
Among ~2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in th …
Genetic Mapping of APP and Amyloid-β Biology Modulation by Trisomy 21.
Mumford P, Tosh J, Anderle S, Gkanatsiou Wikberg E, Lau G, Noy S, Cleverley K, Saito T, Saido TC, Yu E, Brinkmalm G, Portelius E, Blennow K, Zetterberg H, Tybulewicz V, Fisher EMC, Wiseman FK. Mumford P, et al. J Neurosci. 2022 Aug 17;42(33):6453-6468. doi: 10.1523/JNEUROSCI.0521-22.2022. Epub 2022 Jul 14. J Neurosci. 2022. PMID: 35835549 Free PMC article.
Abeta is produced by amyloid precursor protein (APP), a gene located on chromosome 21. People who have DS have three copies of chromosome 21 and thus also an additional copy of APP; this genetic change drives the early development of AD in these individuals. ...This …
Abeta is produced by amyloid precursor protein (APP), a gene located on chromosome 21. People who have DS have three copies of chr …
Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease.
Colacurcio DJ, Pensalfini A, Jiang Y, Nixon RA. Colacurcio DJ, et al. Free Radic Biol Med. 2018 Jan;114:40-51. doi: 10.1016/j.freeradbiomed.2017.10.001. Epub 2017 Oct 6. Free Radic Biol Med. 2018. PMID: 28988799 Free PMC article. Review.
Individuals with Down syndrome (DS) have an increased risk of early-onset Alzheimer's Disease (AD), largely owing to a triplication of the APP gene, located on chromosome 21. ...
Individuals with Down syndrome (DS) have an increased risk of early-onset Alzheimer's Disease (AD), largely owing to a triplicatio …
Nerve growth factor metabolic dysfunction in Alzheimer's disease and Down syndrome.
Iulita MF, Cuello AC. Iulita MF, et al. Trends Pharmacol Sci. 2014 Jul;35(7):338-48. doi: 10.1016/j.tips.2014.04.010. Epub 2014 Jun 21. Trends Pharmacol Sci. 2014. PMID: 24962069 Review.
Alzheimer's disease (AD) is a devastating neurodegenerative condition and the most common type of amnestic dementia in the elderly. Individuals with Down syndrome (DS) are at increased risk of developing AD in adulthood as a result of chromosome 21 trisomy and tr …
Alzheimer's disease (AD) is a devastating neurodegenerative condition and the most common type of amnestic dementia in the elderly. Individu …
Chromosome 21-Encoded microRNAs (mRNAs): Impact on Down's Syndrome and Trisomy-21 Linked Disease.
Alexandrov PN, Percy ME, Lukiw WJ. Alexandrov PN, et al. Cell Mol Neurobiol. 2018 Apr;38(3):769-774. doi: 10.1007/s10571-017-0514-0. Epub 2017 Jul 7. Cell Mol Neurobiol. 2018. PMID: 28687876 Free PMC article.
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). ...Besides the cognitive disruptions and dementia in DS patients other serious health problems such as atherosclerosis, altered lipo …
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 ( …
Focusing on cellular biomarkers: The endo-lysosomal pathway in Down syndrome.
Botté A, Potier MC. Botté A, et al. Prog Brain Res. 2020;251:209-243. doi: 10.1016/bs.pbr.2019.10.002. Epub 2019 Nov 20. Prog Brain Res. 2020. PMID: 32057308 Review.
Down syndrome (DS) is the most frequent chromosomal disorder. It is caused by the triplication of human chromosome 21, leading to increased dosage of a variety of genes including APP (Amyloid Precursor Protein). ...In this review, we outline the normal …
Down syndrome (DS) is the most frequent chromosomal disorder. It is caused by the triplication of human chromosome …
Novel Approaches to an Integrated Route for Trisomy 21 Evaluation.
Buczyńska A, Sidorkiewicz I, Trochimiuk A, Ławicki S, Krętowski AJ, Zbucka-Krętowska M. Buczyńska A, et al. Biomolecules. 2021 Sep 8;11(9):1328. doi: 10.3390/biom11091328. Biomolecules. 2021. PMID: 34572541 Free PMC article. Review.
Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the partial or complete triplication of chromosome 21. Despite the significant progress in the diagnostic tools applied for prenatal screening, commonly used methods are still imprec …
Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the partial or complete triplication of chromo …
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