Výsledky vyhledávání - "Daman Kumari"

Akademický článek

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

Autor: Bruce Hayward, Daman Kumari, Saikat Santra, Clara D. M. van Karnebeek, André B. P. van Kuilenburg, Karen Usdin

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

Abstract The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Fu

Externí odkaz: https://doaj.org/article/d5440151ce024f64b7170c28c47217da

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

The fragile X locus is prone to spontaneous DNA damage that is preferentially repaired by nonhomologous end-joining to preserve genome integrity

Autor: Daman Kumari, Rachel Adihe Lokanga, Cai McCann, Thomas Ried, Karen Usdin

Publikováno v: iScience, Vol 27, Iss 2, Pp 108814- (2024)

Summary: A long CGG-repeat tract in the FMR1 gene induces the epigenetic silencing that causes fragile X syndrome (FXS). Epigenetic changes include H4K20 trimethylation, a heterochromatic modification frequently implicated in transcriptional silencin

Externí odkaz: https://doaj.org/article/398907151c9f4a538caeef7f8c4c68d4

Zobrazit plný text záznamu

Akademický článek

Common Threads: Aphidicolin-Inducible and Folate-Sensitive Fragile Sites in the Human Genome

Autor: Rachel Adihe Lokanga, Daman Kumari, Karen Usdin

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

The human genome has many chromosomal regions that are fragile, demonstrating chromatin breaks, gaps, or constrictions on exposure to replication stress. Common fragile sites (CFSs) are found widely distributed in the population, with the largest sub

Externí odkaz: https://doaj.org/article/c01cda9b39404869ac608160912e73d4

Zobrazit plný text záznamu

Akademický článek

Towards Mechanism-Based Treatments for Fragile X Syndrome

Autor: Daman Kumari, Inbal Gazy

Publikováno v: Brain Sciences, Vol 9, Iss 8, p 202 (2019)

Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000−8000 people worldwide [...]

Externí odkaz: https://doaj.org/article/265fc514bf8449119a44230bd6179d3c

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome

Autor: Daman Kumari, Inbal Gazy, Karen Usdin

Publikováno v: Brain Sciences, Vol 9, Iss 2, p 39 (2019)

More than ~200 CGG repeats in the 5′ untranslated region of the FMR1 gene results in transcriptional silencing and the absence of the FMR1 encoded protein, FMRP. FMRP is an RNA-binding protein that regulates the transport and translation of a varie

Externí odkaz: https://doaj.org/article/dfa537e2d9824e03bba904e4184b522c

Zobrazit plný text záznamu

Akademický článek

Sequencing Errors in Reactions Using Labeled Terminators

Autor: Daman Kumari, Karen Usdin

Publikováno v: BioTechniques, Vol 27, Iss 4, Pp 648-650 (1999)

Externí odkaz: https://doaj.org/article/08027d6de38a4a84a71396e617b8850f

Zobrazit plný text záznamu

Akademický článek

SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome.

Autor: Rea Biacsi, Daman Kumari, Karen Usdin

Publikováno v: PLoS Genetics, Vol 4, Iss 3, p e1000017 (2008)

Expansion of the CGG.CCG-repeat tract in the 5' UTR of the FMR1 gene to >200 repeats leads to heterochromatinization of the promoter and gene silencing. This results in Fragile X syndrome (FXS), the most common heritable form of mental retardation. T

Externí odkaz: https://doaj.org/article/8500b6d849ac43399b6e245f549073f1

Zobrazit plný text záznamu

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease

Autor: Daman Kumari, Bruce E. Hayward, Karen Usdin, Antonia G. Vitalo, Ricardo Mouro Pinto, Xiao-Nan Zhao, Geum-Yi Kim, Carson J. Miller

Publikováno v: Journal of Huntington's Disease

Huntington’s disease (HD) is one of a large group of human disorders that are caused by expanded DNA repeats. These repeat expansion disorders can have repeat units of different size and sequence that can be located in any part of the gene and, whi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f399a5de4f0187afd3e05d67e00613be
http://europepmc.org/articles/PMC7990428

Zobrazit plný text záznamu

Plný text ve formátu HTML

Molecular analysis of FMR1 alleles for fragile X syndrome diagnosis and patient stratification

Autor: Karen Usdin, Daman Kumari

Publikováno v: Expert Review of Molecular Diagnostics. 20:363-365

Fragile X syndrome (FXS), a neurodevelopmental disorder, is the leading form of heritable cognitive disability and autism, affecting approximately 1 in 5,000 males and 1 in 4,000 to 8,000 females [...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::65c2dcd64530845d7c82463bacf9232d
https://doi.org/10.1080/14737159.2020.1729744

Zobrazit plný text záznamu

Glutaminase deficiency caused by short tandem repeat expansion in GLS

Autor: Farhad Karbassi, Joke J.F.A. van Vugt, Daman Kumari, Doreen Dobritzsch, Britt I. Drögemöller, Michael A. Eberle, Clara D. M. van Karnebeek, Maja Tarailo-Graovac, Brett Trost, Ronald J. A. Wanders, Saikat Santra, Michel van Weeghel, Youdong Wang, Wyeth W. Wasserman, Marjolein Turkenburg, Xiao-Yan Wen, Andre B. P. van Kuilenburg, Meaghan J Jones, Jagdeep S. Walia, Koroboshka Brand-Arzamendi, Rene Leen, Julia L Macisaac, Hans R. Waterham, Laura A. Tseng, Michael S. Kobor, Charlotte Nguyen, Karen Usdin, Janet Koster, Indhu-Shree Rajan-Babu, Xiaohong Xu, Bernice Sim, Jinqiu Zhang, Jan H. Veldink, Meng Li, Egor Dolzhenko, Ryan K. C. Yuen, Stephen W. Scherer, Cassandra L. McDonald, Judith Meijer, Phillip A. Richmond, Bruce E. Hayward, C. J. Ross, Galen E.B. Wright, Mahmoud A. Pouladi, Michael T. Geraghty

Publikováno v: New England journal of medicine, 380(15), 1433-1441. Massachussetts Medical Society
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Med

We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified through detailed clinical and biochemical phenotyping, combined with whole

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813158a7c5d6c16623b474be3bcc9e38
https://doi.org/10.1056/nejmoa1806627

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání