Abstract：
:We identified osteoclast defects in craniometaphyseal dysplasia (CMD) using an easy-to-use protocol for differentiating osteoclasts from human induced pluripotent stem cells (hiPSCs). CMD is a rare genetic bone disorder, characterized by life-long progressive thickening of craniofacial bones and abnormal shape of long bones. hiPSCs from CMD patients with an in-frame deletion of Phe377 or Ser375 in ANKH are more refractory to in vitro osteoclast differentiation than control hiPSCs. To exclude differentiation effects due to genetic variability, we generated isogenic hiPSCs, which have identical genetic background except for the ANKH mutation. Isogenic hiPSCs with ANKH mutations formed fewer osteoclasts, resorbed less bone, expressed lower levels of osteoclast marker genes, and showed decreased protein levels of ANKH and vacuolar proton pump v-ATP6v0d2. This proof-of-concept study demonstrates that efficient and reproducible differentiation of isogenic hiPSCs into osteoclasts is possible and a promising tool for investigating mechanisms of CMD or other osteoclast-related disorders.
journal_name
Stem Cell Reportsjournal_title
Stem cell reportsauthors
Chen IP,Luxmi R,Kanaujiya J,Hao Z,Reichenberger EJdoi
10.1016/j.stemcr.2017.09.016subject
Has Abstractpub_date
2017-11-14 00:00:00pages
1369-1376issue
5issn
2213-6711pii
S2213-6711(17)30423-Xjournal_volume
9pub_type
杂志文章abstract：:Insertion of reporter cassettes into the Lgr5 locus has enabled the characterization of mouse intestinal stem cells (ISCs). However, low cell surface abundance of LGR5 protein and lack of high-affinity anti-LGR5 antibodies represent a roadblock to efficiently isolate human colonic stem cells (hCoSCs). We set out to id...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2015.10.003
更新日期：2015-12-08 00:00:00
abstract：:High-purity cardiomyocytes (CMs) derived from human induced pluripotent stem cells (hiPSCs) are promising for drug development and myocardial regeneration. However, most hiPSC-derived CMs morphologically and functionally resemble immature rather than adult CMs, which could hamper their application. Here, we obtained h...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2017.09.007
更新日期：2017-11-14 00:00:00
abstract：:Induced pluripotent stem cells were created from a pancreas agenesis patient with a mutation in GATA6. Using genome-editing technology, additional stem cell lines with mutations in both GATA6 alleles were generated and demonstrated a severe block in definitive endoderm induction, which could be rescued by re-expressio...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2016.12.026
更新日期：2017-03-14 00:00:00
abstract：:ADP-ribosylation factor-like 4aa (Arl4aa) is a member of the ADP-ribosylation factor family. It is expressed in hematopoietic tissue during embryonic development, but its function was unknown. Zebrafish arl4aa is preferentially expressed in the ventral wall of the dorsal aorta (VDA) at 24 and 36 hpf and in caudal hema...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2020.02.012
更新日期：2020-04-14 00:00:00
abstract：:In addition to their promise in regenerative medicine, pluripotent stem cells have proved to be faithful models of many human diseases. In particular, patient-specific stem cell-derived cardiomyocytes recapitulate key features of several life-threatening cardiac arrhythmia syndromes. For both modeling and regenerative...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2014.01.003
更新日期：2014-02-06 00:00:00
abstract：:The in vitro derivation of hematopoietic stem cells (HSCs) from pluripotent stem cells (PSCs) is complicated by the existence of multiple overlapping embryonic blood cell programs called primitive, erythromyeloid progenitor (EMP), and definitive. As HSCs are only generated during the definitive stage of hematopoiesis,...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2015.07.008
更新日期：2015-08-11 00:00:00
abstract：:Understanding the processes that govern liver progenitor cell differentiation has important implications for the design of strategies targeting chronic liver diseases, whereby regeneration of liver tissue is critical. Although DNA methylation (5mC) and hydroxymethylation (5hmC) are highly dynamic during early embryoni...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2017.05.023
更新日期：2017-07-11 00:00:00
abstract：:Predicting developmental potency and risk of posttransplantation tumor formation by human pluripotent stem cells (hPSCs) and their derivatives largely rely on classical histological analysis of teratomas. Here, we investigated whether an assay based on microRNAs (miRNA) in blood plasma is able to detect potentially ma...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2018.11.002
更新日期：2018-12-11 00:00:00
abstract：:FAM122A is a highly conserved housekeeping gene, but its physiological and pathophysiological roles remain greatly elusive. Based on the fact that FAM122A is highly expressed in human CD71+ early erythroid cells, herein we report that FAM122A is downregulated during erythroid differentiation, while its overexpression ...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2020.07.010
更新日期：2020-09-08 00:00:00
abstract：:Being able to summarize properly your work is not an easy task. But learning the skill of writing a good abstract is very important, as it can open many doors, including the possibility to be selected as a speaker at conferences. As meeting abstract reviewers, here we are writing to give you insights into the abstract...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2018.11.016
更新日期：2018-12-11 00:00:00
abstract：:Reprogramming of somatic cells produces induced pluripotent stem cells (iPSCs) that are invaluable resources for biomedical research. Here, we extended the previous transcriptome studies by performing RNA-seq on cells defined by a combination of multiple cellular surface markers. We found that transcriptome changes du...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2015.04.009
更新日期：2015-06-09 00:00:00
abstract：:Precise methods for transgene regulation are important to study signaling pathways and cell lineages in biological systems where gene function is often recycled within and across lineages. We engineered a genetic toolset for flexible transgene regulation in these diverse cellular contexts. Specifically, we created an ...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2015.01.013
更新日期：2015-03-10 00:00:00
abstract：:The core pluripotency transcription factor NANOG is critical for embryonic stem cell (ESC) self-renewal and somatic cell reprogramming. Although NANOG is phosphorylated at multiple residues, the role of NANOG phosphorylation in ESC self-renewal is incompletely understood, and no information exists regarding its functi...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2017.03.023
更新日期：2017-05-09 00:00:00
abstract：:We describe the use of a characteristic blue fluorescence to identify and isolate pluripotent human embryonic stem cells and human-induced pluripotent stem cells. The blue fluorescence emission (450-500 nm) is readily observed by fluorescence microscopy and correlates with the expression of pluripotency markers (OCT4,...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2014.05.004
更新日期：2014-06-12 00:00:00
abstract：:Human embryonic stem cells (hESCs) provide a platform for studying human development and understanding mechanisms underlying diseases. Retinoblastoma-1 (RB1) is a key regulator of cell cycling, of which biallelic inactivation initiates retinoblastoma, the most common congenital intraocular malignancy. We developed a m...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2017.03.005
更新日期：2017-05-09 00:00:00
abstract：:In various vertebrate species, the dorsal aorta (Ao) is the site of specification of adult hematopoietic stem cells (HSCs). It has been observed that the upregulation of essential hematopoietic transcription factors and the formation of specific intra-aortic hematopoietic cell clusters occur predominantly in the ventr...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2014.02.004
更新日期：2014-03-27 00:00:00
abstract：:Generation of hematopoietic stem cells (HSCs) from pluripotent stem cells (PSCs) could potentially provide unlimited HSCs for clinical transplantation, a curative treatment for numerous blood diseases. However, to date, bona fide HSC generation has been largely unsuccessful in vitro. We have previously described proof...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2017.08.010
更新日期：2017-10-10 00:00:00
abstract：:We have developed an improved episomal vector system for efficient generation of integration-free induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells. More recently, we reported that the use of an optimized CRISPR-Cas9 system together with a double-cut donor increases homology-directed repai...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2018.04.013
更新日期：2018-06-05 00:00:00
abstract：:Non-human primates (NHPs) can serve as a human-like model to study cell therapy using induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs). However, whether the efficacy of NHP and human iPSC-CMs is mechanistically similar remains unknown. To examine this, RNU rats received intramyocardial injection of 1 × ...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2018.01.002
更新日期：2018-02-13 00:00:00
abstract：:Physical activity is a strong positive physiological modulator of adult neurogenesis in the hippocampal dentate gyrus. Although the underlying regulatory mechanisms are still unknown, systemic processes must be involved. Here we show that platelets are activated after acute periods of running, and that activated plate...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2019.02.009
更新日期：2019-04-09 00:00:00
abstract：:Hematopoietic stem cells (HSCs) exist in a dormant state and progressively lose regenerative potency as they undergo successive divisions. Why this functional decline occurs and how this information is encoded is unclear. To better understand how this information is stored, we performed RNA sequencing on HSC populatio...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2020.03.005
更新日期：2020-04-14 00:00:00
abstract：:Transcriptome analysis has uncovered a series of long noncoding RNAs (lncRNAs) transcribed during cell differentiation, but how lncRNA is integrated with known transcriptional regulatory network is poorly understood. Here, we utilize human definitive endoderm differentiation as a model system and decipher the function...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2020.07.014
更新日期：2020-09-08 00:00:00
abstract：:The balance of self-renewal and differentiation in long-term repopulating hematopoietic stem cells (LT-HSC) must be strictly controlled to maintain blood homeostasis and to prevent leukemogenesis. Hematopoietic cytokines can induce differentiation in LT-HSCs; however, the molecular mechanism orchestrating this delicat...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2014.05.010
更新日期：2014-06-19 00:00:00
abstract：:Primordial germ cells (PGCs) are fate restricted to differentiate into gametes in vivo. However, when removed from their embryonic niche, PGCs undergo reversion to pluripotent embryonic germ cells (EGCs) in vitro. One of the major differences between EGCs and embryonic stem cells (ESCs) is variable methylation at impr...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2015.07.006
更新日期：2015-09-08 00:00:00
abstract：:In placental mammals, balanced expression of X-linked genes is accomplished by X chromosome inactivation (XCI) in female cells. In humans, random XCI is initiated early during embryonic development. To investigate whether reprogramming of female human fibroblasts into induced pluripotent stem cells (iPSCs) leads to re...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2014.12.012
更新日期：2015-02-10 00:00:00
abstract：:Diminished mitochondrial function is causally related to some heart diseases. Here, we developed a human disease model based on cardiomyocytes from human embryonic stem cells (hESCs), in which an important pathway of mitochondrial gene expression was inactivated. Repression of PGC-1α, which is normally induced during ...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2013.11.008
更新日期：2013-12-12 00:00:00
abstract：:In human-to-mouse xenograft models, reconstitution of human hematopoiesis is usually B-lymphoid dominant. Here we show that the introduction of homozygous Kit(Wv) mutations into C57BL/6.Rag2(null)Il2rg(null) mice with NOD-Sirpa (BRGS) strongly promoted human multi-lineage reconstitution. After xenotransplantation of h...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2016.07.002
更新日期：2016-09-13 00:00:00
abstract：:A method to maintain and rebuild ureteric bud (UB)-like structures from UB cells in vitro could provide a useful tool for kidney regeneration. We aimed in our present study to establish a serum-free culture system that enables the expansion of UB progenitor cells, i.e., UB tip cells, and reconstruction of UB-like stru...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2016.12.011
更新日期：2017-02-14 00:00:00
abstract：:The small intestine plays an important role in the absorption and metabolism of oral drugs. In the current evaluation system, it is difficult to predict the precise absorption and metabolism of oral drugs. In this study, we generated small intestinal epithelial-like cells from human induced pluripotent stem cells (hiP...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2018.10.019
更新日期：2018-12-11 00:00:00
abstract：:The recent development of targeted murine reporter alleles as proxies for intestinal stem cell activity has led to significant advances in our understanding of somatic stem cell hierarchies and dynamics. Analysis of these reporters has led to a model in which an indispensable reserve stem cell at the top of the hierar...
journal_title：Stem cell reports
pub_type： 杂志文章
doi：10.1016/j.stemcr.2014.09.011
更新日期：2014-11-11 00:00:00
