Búsqueda | BVS CLAP/SMR-OPS/OMS

1.

Abundance and localization of human UBE3A protein isoforms.

Sirois, Carissa L; Bloom, Judy E; Fink, James J; Gorka, Dea; Keller, Steffen; Germain, Noelle D; Levine, Eric S; Chamberlain, Stormy J.

Hum Mol Genet ; 29(18): 3021-3031, 2020 11 04.

Artículo en Inglés | MEDLINE | ID: mdl-32833011

2.

Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.

Langouët, Maéva; Gorka, Dea; Orniacki, Clarisse; Dupont-Thibert, Clémence M; Chung, Michael S; Glatt-Deeley, Heather R; Germain, Noelle; Crandall, Leann J; Cotney, Justin L; Stoddard, Christopher E; Lalande, Marc; Chamberlain, Stormy J.

Hum Mol Genet ; 29(19): 3285-3295, 2020 11 25.

Artículo en Inglés | MEDLINE | ID: mdl-32977341

3.

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.

Keute, Marius; Miller, Meghan T; Krishnan, Michelle L; Sadhwani, Anjali; Chamberlain, Stormy; Thibert, Ronald L; Tan, Wen-Hann; Bird, Lynne M; Hipp, Joerg F.

Mol Psychiatry ; 26(7): 3625-3633, 2021 07.

Artículo en Inglés | MEDLINE | ID: mdl-32792659

4.

A bipartite boundary element restricts UBE3A imprinting to mature neurons.

Hsiao, Jack S; Germain, Noelle D; Wilderman, Andrea; Stoddard, Christopher; Wojenski, Luke A; Villafano, Geno J; Core, Leighton; Cotney, Justin; Chamberlain, Stormy J.

Proc Natl Acad Sci U S A ; 116(6): 2181-2186, 2019 02 05.

Artículo en Inglés | MEDLINE | ID: mdl-30674673

5.

Topoisomerases facilitate transcription of long genes linked to autism.

King, Ian F; Yandava, Chandri N; Mabb, Angela M; Hsiao, Jack S; Huang, Hsien-Sung; Pearson, Brandon L; Calabrese, J Mauro; Starmer, Joshua; Parker, Joel S; Magnuson, Terry; Chamberlain, Stormy J; Philpot, Benjamin D; Zylka, Mark J.

Nature ; 501(7465): 58-62, 2013 Sep 05.

Artículo en Inglés | MEDLINE | ID: mdl-23995680

6.

Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs.

Cruvinel, Estela; Budinetz, Tara; Germain, Noelle; Chamberlain, Stormy; Lalande, Marc; Martins-Taylor, Kristen.

Hum Mol Genet ; 23(17): 4674-85, 2014 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-24760766

7.

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.

Martins-Taylor, Kristen; Hsiao, Jack S; Chen, Pin-Fang; Glatt-Deeley, Heather; De Smith, Adam J; Blakemore, Alexandra I F; Lalande, Marc; Chamberlain, Stormy J.

Hum Mol Genet ; 23(9): 2364-73, 2014 May 01.

Artículo en Inglés | MEDLINE | ID: mdl-24363065

8.

Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.

Smith, Emily Y; Futtner, Christopher R; Chamberlain, Stormy J; Johnstone, Karen A; Resnick, James L.

PLoS Genet ; 7(12): e1002422, 2011 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-22242001

9.

Monoallelically expressed noncoding RNAs form nucleolar territories on NOR-containing chromosomes and regulate rRNA expression.

Hao, Qinyu; Liu, Minxue; Daulatabad, Swapna Vidhur; Gaffari, Saba; Song, You Jin; Srivastava, Rajneesh; Bhaskar, Shivang; Moitra, Anurupa; Mangan, Hazel; Tseng, Elizabeth; Gilmore, Rachel B; Frier, Susan M; Chen, Xin; Wang, Chengliang; Huang, Sui; Chamberlain, Stormy; Jin, Hong; Korlach, Jonas; McStay, Brian; Sinha, Saurabh; Janga, Sarath Chandra; Prasanth, Supriya G; Prasanth, Kannanganattu V.

Elife ; 132024 Jan 19.

Artículo en Inglés | MEDLINE | ID: mdl-38240312

10.

Disease modelling using human iPSCs.

Chamberlain, Stormy J.

Hum Mol Genet ; 25(R2): R173-R181, 2016 Oct 01.

Artículo en Inglés | MEDLINE | ID: mdl-27493026

11.

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.

Chamberlain, Stormy J; Chen, Pin-Fang; Ng, Khong Y; Bourgois-Rocha, Fany; Lemtiri-Chlieh, Fouad; Levine, Eric S; Lalande, Marc.

Proc Natl Acad Sci U S A ; 107(41): 17668-73, 2010 Oct 12.

Artículo en Inglés | MEDLINE | ID: mdl-20876107

12.

Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.

Gilmore, Rachel B; Gorka, Dea; Stoddard, Christopher E; Cotney, Justin L; Chamberlain, Stormy J.

bioRxiv ; 2023 Aug 30.

Artículo en Inglés | MEDLINE | ID: mdl-37693591

13.

The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.

Elamin, Marwa; Dumarchey, Aurelie; Stoddard, Christopher; Robinson, Tiwanna M; Cowie, Christopher; Gorka, Dea; Chamberlain, Stormy J; Levine, Eric S.

Stem Cell Reports ; 18(4): 884-898, 2023 04 11.

Artículo en Inglés | MEDLINE | ID: mdl-36898382

14.

Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Perez, Yonatan; Velmeshev, Dmitry; Wang, Li; White, Matthew; Siebert, Clara; Baltazar, Jennifer; Dutton, Natalia Garcia; Wang, Shaohui; Haeussler, Maximilian; Chamberlain, Stormy; Kriegstein, Arnold.

bioRxiv ; 2023 Sep 22.

Artículo en Inglés | MEDLINE | ID: mdl-37790331

15.

A mono-allelic bivalent chromatin domain controls tissue-specific imprinting at Grb10.

Sanz, Lionel A; Chamberlain, Stormy; Sabourin, Jean-Charles; Henckel, Amandine; Magnuson, Terry; Hugnot, Jean-Philippe; Feil, Robert; Arnaud, Philippe.

EMBO J ; 27(19): 2523-32, 2008 Oct 08.

Artículo en Inglés | MEDLINE | ID: mdl-18650936

16.

Neuronal chromatin dynamics of imprinting in development and disease.

Leung, Karen N; Chamberlain, Stormy J; Lalande, Marc; LaSalle, Janine M.

J Cell Biochem ; 112(2): 365-73, 2011 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-21268055

17.

A protein regulated by UBE3A PEGs a potential biomarker.

Germain, Noelle D; Chamberlain, Stormy J.

Cell Rep Med ; 2(8): 100377, 2021 08 17.

Artículo en Inglés | MEDLINE | ID: mdl-34467252

18.

Communication-related assessments in an Angelman syndrome mouse model.

Perrino, Peter A; Chamberlain, Stormy J; Eigsti, Inge-Marie; Fitch, Roslyn Holly.

Brain Behav ; 11(1): e01937, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-33151040

19.

Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism.

Fink, James J; Schreiner, Jeremy D; Bloom, Judy E; James, Jadin; Baker, Dylan S; Robinson, Tiwanna M; Lieberman, Richard; Loew, Leslie M; Chamberlain, Stormy J; Levine, Eric S.

Biol Psychiatry ; 90(11): 756-765, 2021 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-34538422

20.

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13.

Chamberlain, Stormy J; Lalande, Marc.

Neurobiol Dis ; 39(1): 13-20, 2010 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-20304067

BVS CLAP/SMR-OPS/OMS

Centro Latinoamericano de Perinatología, Salud de la Mujer y Reproductiva

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