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1.	Picketts, D, et al. (author) Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition 2023 In: Research square. Journal article (other academic/artistic)
2.	Radio, FC, et al. (author) SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 2021 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 108:3, s. 502-516 Journal article (peer-reviewed)
3.	Radio, FC, et al. (author) SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 2022 In: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 30:SUPPL 1, s. 25-26 Conference paper (other academic/artistic)
4.	Verberne, EA, et al. (author) DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome 2022 In: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 23:14 Journal article (peer-reviewed)abstract JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial features. JARID2 encodes a transcriptional repressor protein that regulates the activity of various histone methyltransferase complexes. However, the molecular etiology is not fully understood, and JARID2-neurodevelopmental syndrome may vary in its typical clinical phenotype. In addition, the detection of variants of uncertain significance (VUSs) often results in a delay of final diagnosis which could hamper the appropriate care. In this study we aim to detect a specific and sensitive DNA methylation signature for JARID2-neurodevelopmental syndrome. Peripheral blood DNA methylation profiles from 56 control subjects, 8 patients with (likely) pathogenic JARID2 variants and 3 patients with JARID2 VUSs were analyzed. DNA methylation analysis indicated a clear and robust separation between patients with (likely) pathogenic variants and controls. A binary model capable of classifying patients with the JARID2-neurodevelopmental syndrome was constructed on the basis of the identified episignature. Patients carrying VUSs clustered with the control group. We identified a distinct DNA methylation signature associated with JARID2-neurodevelopmental syndrome, establishing its utility as a biomarker for this syndrome and expanding the EpiSign diagnostic test.

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Type of publication: journal article (3); conference paper (1)

Type of content: other academic/artistic (2); peer-reviewed (2)

Author/Editor: Sadikovic, B (4); Anderlid, BM (3); Levy, MA (3); Wang, TY (2); Pfundt, R (2); de Boer, E (2); show more...; Jackson, A (2); Graham, JM (2); Barakat, TS (2); Mcwalter, K (2); Amor, DJ (2); Faivre, L. (2); Tartaglia, M (2); Banka, S (2); Weiss, K (2); Lindstrom, K. (2); Scott, DA (2); Isidor, B (2); Ciolfi, A (2); Dallapiccola, B (2); Iascone, M (2); Chandler, KE (2); Vissers, LELM (2); Radio, FC (2); Sawyer, SL (2); Madan-Khetarpal, S (2); Tenconi, R (2); Steindl, K (2); Selicorni, A. (2); Faletra, F. (2); Pang, KF (2); Pedace, L (2); Stellacci, E (2); Lo Cicero, S (2); Dentici, ML (2); Sanchez-Lara, PA (2); MacKenzie, JJ (2); Monteleone, B (2); Zhou, DH (2); Monteiro, FP (2); Macke, EL (2); Stals, K (2); Cabet, S (2); Castle, AMR (2); Kalsner, L (2); Sheehan, W (2); Shinde, DN (2); Goodloe, D (2); Bluske, K (2); Kurtz-Nelson, EC (2); show less...

University: Karolinska Institutet (4)

Language: English (4)

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