221 related articles for article (PubMed ID: 36134658)
1. Molecular and behavioral consequences of Ube3a gene overdosage in mice.
Punt AM; Judson MC; Sidorov MS; Williams BN; Johnson NS; Belder S; den Hertog D; Davis CR; Feygin MS; Lang PF; Jolfaei MA; Curran PJ; van IJcken WF; Elgersma Y; Philpot BD
JCI Insight; 2022 Sep; 7(18):. PubMed ID: 36134658
[TBL] [Abstract][Full Text] [Related]
2. Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.
Copping NA; Christian SGB; Ritter DJ; Islam MS; Buscher N; Zolkowska D; Pride MC; Berg EL; LaSalle JM; Ellegood J; Lerch JP; Reiter LT; Silverman JL; Dindot SV
Hum Mol Genet; 2017 Oct; 26(20):3995-4010. PubMed ID: 29016856
[TBL] [Abstract][Full Text] [Related]
3. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.
Elamin M; Dumarchey A; Stoddard C; Robinson TM; Cowie C; Gorka D; Chamberlain SJ; Levine ES
Stem Cell Reports; 2023 Apr; 18(4):884-898. PubMed ID: 36898382
[TBL] [Abstract][Full Text] [Related]
4. Mechanisms underlying the EEG biomarker in Dup15q syndrome.
Frohlich J; Reiter LT; Saravanapandian V; DiStefano C; Huberty S; Hyde C; Chamberlain S; Bearden CE; Golshani P; Irimia A; Olsen RW; Hipp JF; Jeste SS
Mol Autism; 2019; 10():29. PubMed ID: 31312421
[TBL] [Abstract][Full Text] [Related]
5. A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster.
Hope KA; McGinn A; Reiter LT
Sci Rep; 2019 Feb; 9(1):2382. PubMed ID: 30787400
[TBL] [Abstract][Full Text] [Related]
6. Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples.
Scoles HA; Urraca N; Chadwick SW; Reiter LT; Lasalle JM
Mol Autism; 2011 Dec; 2(1):19. PubMed ID: 22152151
[TBL] [Abstract][Full Text] [Related]
7. Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.
Baker EK; Butler MG; Hartin SN; Ling L; Bui M; Francis D; Rogers C; Field MJ; Slee J; Gamage D; Amor DJ; Godler DE
Transl Psychiatry; 2020 Oct; 10(1):362. PubMed ID: 33116122
[TBL] [Abstract][Full Text] [Related]
8. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
Jiang YH; Pan Y; Zhu L; Landa L; Yoo J; Spencer C; Lorenzo I; Brilliant M; Noebels J; Beaudet AL
PLoS One; 2010 Aug; 5(8):e12278. PubMed ID: 20808828
[TBL] [Abstract][Full Text] [Related]
9. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Noor A; Dupuis L; Mittal K; Lionel AC; Marshall CR; Scherer SW; Stockley T; Vincent JB; Mendoza-Londono R; Stavropoulos DJ
Hum Mutat; 2015 Jul; 36(7):689-93. PubMed ID: 25884337
[TBL] [Abstract][Full Text] [Related]
10. Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.
DiStefano C; Wilson RB; Hyde C; Cook EH; Thibert RL; Reiter LT; Vogel-Farley V; Hipp J; Jeste S
Am J Med Genet A; 2020 Jan; 182(1):71-84. PubMed ID: 31654560
[TBL] [Abstract][Full Text] [Related]
11. Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications.
Herzing LB; Cook EH; Ledbetter DH
Hum Mol Genet; 2002 Jul; 11(15):1707-18. PubMed ID: 12095913
[TBL] [Abstract][Full Text] [Related]
12. Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.
Meng L; Person RE; Huang W; Zhu PJ; Costa-Mattioli M; Beaudet AL
PLoS Genet; 2013; 9(12):e1004039. PubMed ID: 24385930
[TBL] [Abstract][Full Text] [Related]
13. Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.
Neubert G; von Au K; Drossel K; Tzschach A; Horn D; Nickel R; Kaindl AM
Gene; 2013 Jan; 512(2):453-5. PubMed ID: 23124039
[TBL] [Abstract][Full Text] [Related]
14. Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.
Germain ND; Chen PF; Plocik AM; Glatt-Deeley H; Brown J; Fink JJ; Bolduc KA; Robinson TM; Levine ES; Reiter LT; Graveley BR; Lalande M; Chamberlain SJ
Mol Autism; 2014; 5():44. PubMed ID: 25694803
[TBL] [Abstract][Full Text] [Related]
15. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Urraca N; Cleary J; Brewer V; Pivnick EK; McVicar K; Thibert RL; Schanen NC; Esmer C; Lamport D; Reiter LT
Autism Res; 2013 Aug; 6(4):268-79. PubMed ID: 23495136
[TBL] [Abstract][Full Text] [Related]
16. Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11-q13 duplication syndrome.
Elamin M; Lemtiri-Chlieh F; Robinson TM; Levine ES
Epilepsia; 2023 Sep; 64(9):2515-2527. PubMed ID: 37329181
[TBL] [Abstract][Full Text] [Related]
17. Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism.
Fink JJ; Schreiner JD; Bloom JE; James J; Baker DS; Robinson TM; Lieberman R; Loew LM; Chamberlain SJ; Levine ES
Biol Psychiatry; 2021 Dec; 90(11):756-765. PubMed ID: 34538422
[TBL] [Abstract][Full Text] [Related]
18. Angelman Syndrome: From Mouse Models to Therapy.
Rotaru DC; Mientjes EJ; Elgersma Y
Neuroscience; 2020 Oct; 445():172-189. PubMed ID: 32088294
[TBL] [Abstract][Full Text] [Related]
19. Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.
Saravanapandian V; Nadkarni D; Hsu SH; Hussain SA; Maski K; Golshani P; Colwell CS; Balasubramanian S; Dixon A; Geschwind DH; Jeste SS
Mol Autism; 2021 Aug; 12(1):54. PubMed ID: 34344470
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]