7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

被引：0

作者：

Antonio Adamo

Sina Atashpaz

Pierre-Luc Germain

Matteo Zanella

Giuseppe D'Agostino

Veronica Albertin

Josh Chenoweth

Lucia Micale

Carmela Fusco

Christian Unger

Bartolomeo Augello

Orazio Palumbo

Brad Hamilton

Massimo Carella

Emilio Donti

Giancarlo Pruneri

Angelo Selicorni

Elisa Biamino

Paolo Prontera

Ronald McKay

Giuseppe Merla

Giuseppe Testa

机构：

[1] European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico,Department of Experimental Oncology

[2] IRCCS),Department of Biomedical Sciences

[3] Lieber Institute for Brain Development,Department of Pediatrics

[4] Medical Genetics Unit,Department of Health Sciences

[5] IRCCS Casa Sollievo della Sofferenza Hospital,undefined

[6] University of Sheffield,undefined

[7] Stemgent,undefined

[8] Medical Genetics Unit,undefined

[9] Hospital Santa Maria della Misericordia,undefined

[10] University of Perugia,undefined

[11] Unità Operativa Semplice (UOS) Genetica Clinica Pediatrica,undefined

[12] Fondazione Monza e Brianza per il Bambino e la sua Mamma (Fondazione MBBM),undefined

[13] Azienda Ospedaliera San Gerardo,undefined

[14] University of Turin,undefined

[15] University of Milan,undefined

来源：

Nature Genetics | 2015年 / 47卷

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摘要：

Giuseppe Testa and colleagues report the generation and transcriptional characterization of patient-derived induced pluripotent stem cells (iPSCs) with copy number variants at 7q11.23, which cause syndromes including neurocognitive phenotypes. They find that the dosage of the transcription factor gene GTF2I accounts for 10–20% of the transcriptional dysregulation observed in these cells.

引用

页码：132 / 141

页数：9

共 5 条

[1] 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
Adamo, Antonio
Atashpaz, Sina
Germain, Pierre-Luc
Zanella, Matteo
D'Agostino, Giuseppe
Albertin, Veronica
Chenoweth, Josh
Micale, Lucia
Fusco, Carmela
Unger, Christian
Augello, Bartolomeo
Palumbo, Orazio
Hamilton, Brad
Carella, Massimo
Donti, Emilio
Pruneri, Giancarlo
Selicorni, Angelo
Biamino, Elisa
Prontera, Paolo
Mckay, Ronald
Merla, Giuseppe
Testa, Giuseppe
NATURE GENETICS, 2015, 47 (02) : 132 - 141
[2] Transcriptomic characterization of 7q11.23 patient-specific induced pluripotent stem cells (iPSCs) and derivates
Costa-Roger, Mar
Kuebler, Bernd
Alvarez-Estape, Marina
Flores, Raquel
Alberto Perez-Jurado, Luis
Cusco, Ivon
Corominas, Roser
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 260 - 260
[3] Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome
Kuebler, B.
Aran, B.
Flores, R.
Perez-Jurado, L. A.
Veiga, A.
Cusco, I
Corominas, R.
STEM CELL RESEARCH, 2020, 49
[4] Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)
Kuebler, B.
Aran, B.
Flores, R.
Perez-Jurado, L. A.
Veiga, A.
Corominas, R.
Cusco, I
STEM CELL RESEARCH, 2020, 49
[5] In Silico Analysis to Explore Lineage-Independent and -Dependent Transcriptional Programs Associated with the Process of Endothelial and Neural Differentiation of Human Induced Pluripotent Stem Cells
Nakhaei-Nejad, Maryam
Trinity, Luke
Jabbari, Hosna
Pasdar, Manijeh
Jahroudi, Nadia
JOURNAL OF CLINICAL MEDICINE, 2021, 10 (18)

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