ArticleThe Journal of biological chemistry2012
Aberrant gene expression profiles in pluripotent stem cells induced from fibroblasts of a Klinefelter syndrome patient.
Article in The Journal of biological chemistry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- NANOG governs cell metabolism and redox homeostasis in human naïve embryonic stem cells.EMBO reports · 2025Article
- Generation of iPSC Cell Lines from Patients with Sex Chromosome Aneuploidies.Methods in molecular biology (Clifton, N.J.) · 2024Article
- A transcriptomic signature of X chromosome overdosage in Saudi Klinefelter syndrome induced pluripotent stem cells.Endocrine connections · 2023Article
- Pseudoautosomal Region 1 Overdosage Affects the Global Transcriptome in iPSCs From Patients With Klinefelter Syndrome and High-Grade X Chromosome Aneuploidies.Frontiers in cell and developmental biology · 2021Article
- TheFrontiers in molecular neuroscience · 2021Article
- Derivation and propagation of spermatogonial stem cells from human pluripotent cells.Stem cell research & therapy · 2020Article
- Human Pluripotent Stem Cells in Reproductive Science-a Comparison of Protocols Used to Generate and Define Male Germ Cells from Pluripotent Stem Cells.International journal of molecular sciences · 2020Review
- Modeling Klinefelter Syndrome Using Induced Pluripotent Stem Cells Reveals Impaired Germ Cell Differentiation.Frontiers in cell and developmental biology · 2020Article
- Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells.Frontiers in cellular neuroscience · 2020Article
- Induced Pluripotent Stem Cells Derived From Two Idiopathic Azoospermia Patients Display Compromised Differentiation Potential for Primordial Germ Cell Fate.Frontiers in cell and developmental biology · 2020Article
- Human induced pluripotent stem cells from two azoospermic patients with Klinefelter syndrome show similar X chromosome inactivation behavior to female pluripotent stem cells.Human reproduction (Oxford, England) · 2019Article
- APOL1 and kidney cell function.American journal of physiology. Renal physiology · 2019Review
- Reprogramming the Epigenome With Vitamin C.Frontiers in cell and developmental biology · 2019Review
- Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity.Human molecular genetics · 2017Article
- Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis.Scientific reports · 2017Article
- Early pathogenic event of Alzheimer's disease documented in iPSCs from patients with PSEN1 mutations.Oncotarget · 2017Article
- Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies.Scientific reports · 2017Article
- Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Oncotarget · 2016Article
- hiPSC-derived iMSCs: NextGen MSCs as an advanced therapeutically active cell resource for regenerative medicine.Journal of cellular and molecular medicine · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Klinefelter syndrome (KS) is the most common male chromosome aneuploidy. Its pathophysiology is largely unexplained due to the lack of adequate models. Here, we report the derivation of induced pluripotent stem cell (iPSCs) lines from a KS patient with a karyotype of 47, XXY. Derived KS-iPSCs meet all criteria of normal iPSCs with the potential for germ cell differentiation. Although X chromosome inactivation occurs in all KS-iPSCs, genome-wide transcriptome analysis identifies aberrantly expressed genes associated with the clinical features of KS. Our KS-iPSCs can serve as a cellular model for KS research. Identified genes may become biomarkers for early diagnosis or potential therapeutic targets for KS and significantly accelerate the understanding, diagnosis, and treatment of Klinefelter syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.