A cohort study on deficiency of ADA2 from China
PreprintsGuomin Li, Xu Han, Ye Wu, Wei Wang, Hong-Xia Tang, Mei-Ping Lu, Xue-Mei Tang, Yi Lin, Fan Deng, Jun Yang, Xin-Ning Wang, Cong-Cong Liu, Wen-Jie Zheng, Bing-Bing Wu, Fang Zhou
Guomin Li, Xu Han, Ye Wu, Wei Wang, Hong-Xia Tang, Mei-Ping Lu, Xue-Mei Tang, Yi Lin, Fan Deng, Jun Yang, Xin-Ning Wang, Cong-Cong Liu, Wen-Jie Zheng, Bing-Bing Wu, Fang Zhou
Brijesh Kumar, Katie Batic, Poornima Bhat-Nakshatri, Maggie M Granatir, Rebekah Joann Addison, Megan Szymanski, Lee Ann Baldridge, Constance J Temm, George Sandusky, Sandra K Althouse, Anna Maria Storniolo, Harikrishna Nakshatri
Ao Fang, Yifan Wang, Naiyu Guan, Lingmin Lin, Binjie Guo, Wanxiong Cai, Xiangfeng Chen, Jingjia Ye, Zeinab Abdelrahman, Shuang Jin, Bin Yu, Xiaosong Gu, Xuhua Wang
Andrew D Duckworth, Cath Eberlein, Victoria Pollard, Richard Bethell, Joseph R Slupsky, Oliver Schon, John F Woolley, Tiffany Thorn
Alexander T.F. Bell, Jacob T. Mitchell, Ashley L. Kiemen, Kohei Fujikura, Helen Fedor, Bonnie Gambichler, Atul Deshpande, Pei-Hsun Wu, Dimitrios N Sidiropoulos, Rossin Erbe, Jacob Stern, Rena Chan, Stephen Williams, James M. Chell,
Peng Ding, Chuan Gao, Youshui Gao, Delin Liu, Hao Li, Jun Xu, Xiaoyi Chen, Yigang Huang, Changqing Zhang, Ming Hao Zheng, Junjie Gao
Wenxuan Wang, Chun Fan, Xinbo Yu, Xu Qiu, Yingzhe Hu, Shuhan Li, Xiangru Gao, Qiuxia Ji
Tarik Hadid, Ayad Al-Katib, Jose Binongo, Gina M. Berteotti, Salman Fazal, James M. Rossetti, John Lister
Philipp Gmach, Marc Bathe-Peters, Narasimha Telugu, Martin J Lohse, Paolo Annibale
Here, Seong et al. identify an optimal set of epiblast inducers that captures mouse trophectoderm stem cells (TESCs) as a stable and highly self-renewing state reflecting the blastocyst stage. TESCs have enhanced capacity to form blastoids that indu
Here, Seong et al. identify an optimal set of epiblast inducers that captures mouse trophectoderm stem cells (TESCs) as a stable and highly self-renewing state reflecting the blastocyst stage. TESCs have enhanced capacity to form blastoids that indu
Abstract: Background: Clinical and research based genetic testing has uncovered genes that encode chromatin modifying complex components required for organogenesis. Covalent histone modifications play a key role in establishing transcriptional plasticity during development, required for cell fate specification, and have been implicated as a developmental mechanism that accounts for autism spectrum disorder (ASD) and CHD co-occurrence. ASXL3 has been identified as a high confidence ASD gene. ASXL3 is a component of the Polycomb Repressive Deubiquitination (PR-DUB) complex, which deubiquitinates histone H2A. However, the role of ASXL3 in cardiac development remains unknown.
Neuroinflammation and activated microglia play important role in neuron damage in the traumatic brain injury (TBI). In this study, we determined the effect of human umbilical cord mesenchymal stem cells (UMSCs) combined with monosialotetrahexosy 1 ganglioside (GM1) on the neuroinflammation and polarization of microglia in a rat model of TBI, which was established in male rats using a fluid percussion brain injury device.
Here, Seong et al. identify an optimal set of epiblast inducers that captures mouse trophectoderm stem cells (TESCs) as a stable and highly self-renewing state reflecting the blastocyst stage. TESCs have enhanced capacity to form blastoids that indu
Here, Seong et al. identify an optimal set of epiblast inducers that captures mouse trophectoderm stem cells (TESCs) as a stable and highly self-renewing state reflecting the blastocyst stage. TESCs have enhanced capacity to form blastoids that indu
KPTN-related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN (kaptin), a component of the mTOR regulatory complex KICSTOR.
Alternative splicing of neuronal genes is controlled in part by the coordinated action of the polypyrimidine tract binding proteins (PTBP1 and PTBP2).
Vascular cambium contains bifacial stem cells, which produce secondary xylem to one side and secondary phloem to the other.
Olfactory mucosa is well-known for its lifelong ability for regeneration. Regeneration of neurons and regrowth of severed axons are the most common neural repair mechanisms in olfactory mucosa.
The polygenic and multifactorial nature of many psychiatric disorders has hampered the personalized medicine approach implementation in clinical practice.
Acute myeloid leukemia (AML) is a common and lethal haematological malignant hyperplastic disease originating from hematopoietic stem cells.
Abnormalities of brain connectivity are consistently observed in individuals with schizophrenias (SZ).
Human induced pluripotent stem cell–derived endothelial cells (hiPSC-ECs) exhibit potential in repairing the injured heart after myocardial infarction (MI) by promoting neovascularization and cardiomyocyte survival.
Background The most serious condition of male infertility is complete Sertoli cell-only syndrome (SCOS), referring to lack of all spermatogenic cells in testes.
With human iPSC-based brain organoids and mouse chimeras, Jin and colleagues demonstrate that upregulated type-I-interferon (IFN-I) signaling in Down syndrome microglia causes elevated synaptic pruning during development and accelerated senescence, r
In this issue of Cell Stem Cell, Jin et al. report that human Down syndrome microglia exhibit enhanced synaptic engulfment and accelerated tau-induced cellular senescence in human-mouse chimeric brains. They show that inhibiting interferon signaling
Li et al. demonstrate that amino acid catabolism and the GCN2-eIF2α axis control protein synthesis and energy production in hematopoietic stem cells for maintenance and proliferation. They also show that nicotinamide riboside increases amino acid c
Here, Seong et al. identify an optimal set of epiblast inducers that captures mouse trophectoderm stem cells (TESCs) as a stable and highly self-renewing state reflecting the blastocyst stage. TESCs have enhanced capacity to form blastoids that indu
The atypical chemokine receptor 1 (ACKR1) was discovered on erythrocytes as the Duffy blood group antigen (Cutbush et al., 1950), also called Duffy-antigen/receptor for chemokines, or DARC (Novitzky-Basso and Rot, 2012). Erythrocytes are terminally
In this issue of Cell Stem Cell, Tran and colleagues develop a platform for differentiating thousands of miniature kidney organoids consisting of one or two nephron-like structures each. They use this platform to identify a potent new inhibitor of cy
Cell competition is a fitness quality control that eliminates cells that are less fit than their neighbors. Nichols, Lima, and Rodríguez review the importance of cell competition in the early mammalian embryo for the elimination of abnormal cells, f
Niec et al. integrate spatial and single-cell transcriptomics data and develop computational approaches to finely map the cellular and transcriptional landscape of the intestinal crypt-villus axis. Combining these results with functional experiments
Duffy antigen receptor for chemokines (DARC)/CD234, also known as atypical chemokine receptor 1 (ACKR1), is a seven-transmembrane domain protein expressed on erythrocytes, vascular endothelium, and a subset of epithelial cells (Peiper et al., 1995).
In this issue of Cell Stem Cell, Xu et al. and Yu et al. use low-input epigenetic profiling techniques to map H3K9me3 deposition in early human development. They reveal stage-specific H3K9me3 deposition on retrotransposons, which may play crucial c
Wang and colleagues comprehensively compare the landscapes of H3K9me3 between human and mouse early embryos and reveal the roles of hominoid-specific retrotransposons in H3K9me3-dependent heterochromatin remodeling during early human development. The
Xu et al. profiled the genome-wide H3K9me3 distribution in human oocytes and early embryos. They found the function and mechanism of H3K9me3 modification on long terminal repeat (LTR) regulation and provide a detailed map of the sequential reprogram
Your gut is a wondrous place. A special layer of cells that coats the insides of your small and large intestines takes in nutrients and water from what you ate while keeping anything bad out of your system.
Recombination-activating genes (RAG1 and RAG2) are critical in lymphoid cell development and function for initiating the V(D)J-recombination process to generate polyclonal lymphocytes with broad antigen-specificity.
The examination of post-mortem brain tissue suggests synaptic loss as a central pathological hallmark of schizophrenia.
Lebers Congenital Amaurosis (LCA16) is caused by point mutations in KCNJ13 gene, which encodes for an inward-rectifying potassium channel, Kir7.1.
Single nucleotide polymorphism rs6903956 has been identified as one of the genetic risk factors for coronary artery disease (CAD).
We investigated the potential correlation between the fluid shear stress and the proliferation of bone prostate cancer cells on the surface of nanoclay-based scaffolds in a perfusion bioreactor.
In a previous work, we presented a model that integrates cancer cell differentiation and immunotherapy, analysing a particular therapy against cancer stem cells by cytotoxic cell vaccines.
مدينة روتشستر، ولاية مينيسوتا— في إحدى الدراسات الأولى من نوعها، حللت مايو كلينك مجموعة كبيرة من المرضى لفهم دوافعهم للبحث عن علاجات بالخلايا الجذعية وما إذا كانت التوقعات مبنية على العلم. ويمكن أن تساعد هذه النتائج خبراء الرعاية الصحية على التعامل مع الادعاءات المضللة وتقديم المشورة للمرضى بشكل أفضل.
p53 is one of the most important proteins in cancer biology. Often referred to as a “guardian of the genome,” p53 becomes activated in response to various cellular stressors like DNA damage.
Allogeneic hematopoietic cell transplantation between female donors and male recipients (female-to-male allo-HCT) is a well-established risk factor for inferior survival outcomes due to a higher incidence of graft-versus-host disease (GVHD).
To ensure faultless duplication of the entire genome, eukaryotic replication initiates from thousands of replication origins.
Suspension cultures are widely used for cell expansion in regenerative medicine and production.
Germ cells are the vehicle of human reproduction, arising early in embryonic development and developing throughout adult life until menopause onset in women.
YES-associated protein (YAP) is a transcriptional cofactor with a key role in the regulation of several cellular processes, including proliferation, differentiation and epithelial-to-mesenchymal transition (EMT), by integrating multiple cell autonomous and microenvironmental cues.