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Quoted phrase not found in phrase index: "Chromosome 4Q32.1-q32.2 triplication syndrome"
Page 1
Alpha-thalassaemia.
Bernini LF, Harteveld CL. Bernini LF, et al. Baillieres Clin Haematol. 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. Baillieres Clin Haematol. 1998. PMID: 10872473 Review.
These deletions do not include the structural genes but, nevertheless, suppress completely their expression. Larger deletions involving the tip of the short arm of chromosome 16 by truncation, interstitial deletions or translocations result in the contiguous gene syndro …
These deletions do not include the structural genes but, nevertheless, suppress completely their expression. Larger deletions involving the …
Down syndrome and the eye: Ocular characteristics and ocular assessment.
Mathan JJ, Simkin SK, Gokul A, McGhee CNJ. Mathan JJ, et al. Surv Ophthalmol. 2022 Nov-Dec;67(6):1631-1646. doi: 10.1016/j.survophthal.2022.03.006. Epub 2022 Apr 1. Surv Ophthalmol. 2022. PMID: 35367480 Review.
The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectual disability. The triplication of this chromosome, known as Down syndrome (DS) is also associated with several manifes …
The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectu …
RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome.
Rozen EJ, Ozeroff CD, Allen MA. Rozen EJ, et al. Hum Genomics. 2023 Sep 5;17(1):83. doi: 10.1186/s40246-023-00531-2. Hum Genomics. 2023. PMID: 37670378 Free PMC article. Review.
Mutations and rearrangements on RUNX1 are key drivers of hematological malignancies. In humans, this gene is localized to the 'Down syndrome critical region' of chromosome 21, triplication of which is necessary and sufficient for most phenotypes that characte …
Mutations and rearrangements on RUNX1 are key drivers of hematological malignancies. In humans, this gene is localized to the 'Down syndr …
Dysregulated systemic metabolism in a Down syndrome mouse model.
Sarver DC, Xu C, Velez LM, Aja S, Jaffe AE, Seldin MM, Reeves RH, Wong GW. Sarver DC, et al. Mol Metab. 2023 Feb;68:101666. doi: 10.1016/j.molmet.2022.101666. Epub 2022 Dec 29. Mol Metab. 2023. PMID: 36587842 Free PMC article.
OBJECTIVE: Trisomy 21 is one of the most complex genetic perturbations compatible with postnatal survival. Dosage imbalance arising from the triplication of genes on human chromosome 21 (Hsa21) affects multiple organ systems. Much of Down syndrome (DS) resear …
OBJECTIVE: Trisomy 21 is one of the most complex genetic perturbations compatible with postnatal survival. Dosage imbalance arising from the …
Aging in Down Syndrome and the Development of Alzheimer's Disease Neuropathology.
Head E, Lott IT, Wilcock DM, Lemere CA. Head E, et al. Curr Alzheimer Res. 2016;13(1):18-29. doi: 10.2174/1567205012666151020114607. Curr Alzheimer Res. 2016. PMID: 26651341 Free PMC article. Review.
Chromosome 21, triplicated in Down Syndrome, contains several genes that are thought to play a critical role in the development of AD neuropathology. The overexpression of the gene for the amyloid precursor protein (APP), on chromosome 21, leads to ear …
Chromosome 21, triplicated in Down Syndrome, contains several genes that are thought to play a critical role in the dev …
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 …
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 …
Searching for new pharmacological targets for the treatment of Alzheimer's disease in Down syndrome.
Caraci F, Iulita MF, Pentz R, Flores Aguilar L, Orciani C, Barone C, Romano C, Drago F, Cuello AC. Caraci F, et al. Eur J Pharmacol. 2017 Dec 15;817:7-19. doi: 10.1016/j.ejphar.2017.10.004. Epub 2017 Oct 5. Eur J Pharmacol. 2017. PMID: 28987272 Review.
Individuals with Down syndrome are at increased risk of developing Alzheimer's disease due to increase gene dosage resulting from chromosome 21 triplication. ...Therefore, a good understanding of the pathophysiology of Alzheimer's disease in Down syndrome …
Individuals with Down syndrome are at increased risk of developing Alzheimer's disease due to increase gene dosage resulting from …
The Down syndrome critical region.
Shapiro BL. Shapiro BL. J Neural Transm Suppl. 1999;57:41-60. doi: 10.1007/978-3-7091-6380-1_3. J Neural Transm Suppl. 1999. PMID: 10666667 Review.
Since the early 1970's numerous attempts have been made to learn whether specific segments of chromosome 21, when triplicated, are responsible for the clinical condition Down syndrome (DS). Studies were reported in which positive or negative clinical diagnose …
Since the early 1970's numerous attempts have been made to learn whether specific segments of chromosome 21, when triplicated, …
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M. Muranishi Y, et al. Hum Reprod. 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. Hum Reprod. 2024. PMID: 38511217
STUDY QUESTION: Do copy-number variations (CNVs) in the azoospermia factor (AZF) regions and monogenic mutations play a major role in the development of isolated (non-syndromic) non-obstructive azoospermia (NOA) in Japanese men with a normal 46, XY karyotype? ...MAIN RESUL …
STUDY QUESTION: Do copy-number variations (CNVs) in the azoospermia factor (AZF) regions and monogenic mutations play a major role in the de …
56 results