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About 57,345 results

Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8373931
Nature Communications; Bolt CC, Lopez-Delisle L et. al.

Aug 20th, 2021 - Human families with chromosomal rearrangements at 2q31, where the human HOXD locus maps, display mesomelic dysplasia, a severe shortening and bending of the limb. In mice, the dominant Ulnaless inversion of the HoxD cluster produces a similar phenotype suggesting the same origin for these malformations in humans and mice. Here we engineer 1 Mb inversion including the HoxD gene cluster, which po...

The developing mouse coronal suture at single-cell resolution.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355337
Nature Communications; Farmer DT, Mlcochova H et. al.

Aug 12th, 2021 - Sutures separate the flat bones of the skull and enable coordinated growth of the brain and overlying cranium. The coronal suture is most commonly fused in monogenic craniosynostosis, yet the unique aspects of its development remain incompletely understood. To uncover the cellular diversity within the murine embryonic coronal suture, we generated single-cell transcriptomes and performed extensi...

Molecular architecture of the developing mouse brain.
https://doi.org/10.1038/s41586-021-03775-x 10.1073/pnas.1520760112 10.1016/j.cell.2015.09.004 10.1126/science.aap8809 10.1038/nature25980 10.1126/science.aav2522 10.1016/j.cell.2016.09.027 10.1016/j.cub.2018.07.062 10.1016/j.cell.2018.06.021 10.1126/science.aam8999 10.1038/s41586-019-0969-x 10.1038/74199 10.1242/dev.028415 10.1242/dev.092866 10.1016/j.stem.2010.04.017 10.1242/dev.01436 10.1038/s41586-019-0933-9 10.1111/j.1365-2443.2007.01113.x 10.1186/1749-8104-6-23 10.1016/S0925-4773(99)00005-2 10.1016/j.ydbio.2012.05.023 10.1002/dvg.23288 10.1016/j.devcel.2020.06.009 10.1016/j.immuni.2018.11.004 10.1038/nature05453 10.1002/(SICI)1520-6408(1999)24:1/2<165::AID-DVG15>3.0.CO;2-V 10.1093/nar/gkaa792 10.1371/journal.pone.0003859 10.1097/IAE.0b013e3181facfa9 10.1038/s41586-018-0414-6 10.17504/protocols.io.xy4fpyw 10.1038/s41467-019-13056-x 10.1038/s41598-017-04567-y
Nature La Manno G, Siletti K et. al.

Jul 30th, 2021 - The mammalian brain develops through a complex interplay of spatial cues generated by diffusible morphogens, cell-cell interactions and intrinsic genetic programs that result in probably more than a thousand distinct cell types. A complete understanding of this process requires a systematic characterization of cell states over the entire spatiotemporal range of brain development. The ability of...

Quantitative imaging of transcription in living Drosophila embryos reveals the impact o...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8302612
Nature Communications; Pimmett VL, Dejean M et. al.

Jul 25th, 2021 - Genes are expressed in stochastic transcriptional bursts linked to alternating active and inactive promoter states. A major challenge in transcription is understanding how promoter composition dictates bursting, particularly in multicellular organisms. We investigate two key Drosophila developmental promoter motifs, the TATA box (TATA) and the Initiator (INR). Using live imaging in Drosophila e...

A connexin/ifi30 pathway bridges HSCs with their niche to dampen oxidative stress.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8302694
Nature Communications; Cacialli P, Mahony CB et. al.

Jul 25th, 2021 - Reactive oxygen species (ROS) represent a by-product of metabolism and their excess is toxic for hematopoietic stem and progenitor cells (HSPCs). During embryogenesis, a small number of HSPCs are produced from the hemogenic endothelium, before they colonize a transient organ where they expand, for example the fetal liver in mammals. In this study, we use zebrafish to understand the molecular me...

Pancreatic Ppy-expressing γ-cells display mixed phenotypic traits and the adaptive plas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298494
Nature Communications; Perez-Frances M, van Gurp L et. al.

Jul 24th, 2021 - The cellular identity of pancreatic polypeptide (Ppy)-expressing γ-cells, one of the rarest pancreatic islet cell-type, remains elusive. Within islets, glucagon and somatostatin, released respectively from α- and δ-cells, modulate the secretion of insulin by β-cells. Dysregulation of insulin production raises blood glucose levels, leading to diabetes onset. Here, we present the genetic signatur...

Human neuropathology confirms projection neuron and interneuron defects and delayed oli...
https://doi.org/10.1016/j.ejmg.2021.104282
European Journal of Medical Genetics; Wilpert NM, Marguet F et. al.

Jul 21st, 2021 - The Forkhead transcription factor FOXG1 is a prerequisite for telencephalon development in mammals and is an essential factor controlling expansion of the dorsal telencephalon by promoting neuron and interneuron production. Heterozygous FOXG1 gene mutations cause FOXG1 syndrome characterized by severe intellectual disability, motor delay, dyskinetic movements and epilepsy. Neuroimaging studies ...

The porcine cerebellin gene family.
https://doi.org/10.1016/j.gene.2021.145852
Gene Larsen K

Jul 19th, 2021 - Cerebellins (CBLN1-4), together with C1qTNF proteins, belong to the CBLN subfamily of C1q proteins. Cerebellin-1 (CBLN1) is active in synapse formation and functions at the parallel fiber-Purkinje cell synapses. Cerebellins form tripartite complexes with neurexins and the glutamate-receptor-related proteins GluD1 and GluD2, playing a role as trans-synaptic cell-adhesion molecules that criticall...

In Vivo Characterization of Endogenous Cardiovascular Extracellular Vesicles in Larval ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8384253
Arteriosclerosis, Thrombosis, and Vascular Biology; Scott A, Sueiro Ballesteros L et. al.

Jul 16th, 2021 - Extracellular vesicles (EVs) facilitate molecular transport across extracellular space, allowing local and systemic signaling during homeostasis and in disease. Extensive studies have described functional roles for EV populations, including during cardiovascular disease, but the in vivo characterization of endogenously produced EVs is still in its infancy. Because of their genetic tractability ...

Coordination of endothelial cell positioning and fate specification by the epicardium.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260743
Nature Communications; Quijada P, Trembley MA et. al.

Jul 8th, 2021 - The organization of an integrated coronary vasculature requires the specification of immature endothelial cells (ECs) into arterial and venous fates based on their localization within the heart. It remains unclear how spatial information controls EC identity and behavior. Here we use single-cell RNA sequencing at key developmental timepoints to interrogate cellular contributions to coronary ves...

Aflatoxin B1 interferes with embryonic liver development: Involvement of p53 signaling ...
https://doi.org/10.1016/j.tox.2021.152844
Toxicology Cheng YC, Wu TS et. al.

Jul 3rd, 2021 - Aflatoxin B1 (AFB1), a naturally occurring mycotoxin, is present in human placenta and cord blood. AFB1 at concentrations found in contaminated food commodities (0.25 and 0.5 μM) did not alter the spontaneous movement, heart rate, hatchability, or morphology of embryonic zebrafish. However, around 86 % of 0.25 μM AFB1-treated embryos had livers of reduced size, and AFB1 disrupted the hepatocyte...

Cnidarian-bilaterian comparison reveals the ancestral regulatory logic of the β-catenin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241978
Nature Communications; Lebedeva T, Aman AJ et. al.

Jul 1st, 2021 - In animals, body axis patterning is based on the concentration-dependent interpretation of graded morphogen signals, which enables correct positioning of the anatomical structures. The most ancient axis patterning system acting across animal phyla relies on β-catenin signaling, which directs gastrulation, and patterns the main body axis. However, within Bilateria, the patterning logic varies si...

A genetically encoded anti-CRISPR protein constrains gene drive spread and prevents pop...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8233359
Nature Communications; Taxiarchi C, Beaghton A et. al.

Jun 27th, 2021 - CRISPR-based gene drives offer promising means to reduce the burden of pests and vector-borne diseases. These techniques consist of releasing genetically modified organisms carrying CRISPR-Cas nucleases designed to bias their inheritance and rapidly propagate desired modifications. Gene drives can be intended to reduce reproductive capacity of harmful insects or spread anti-pathogen effectors t...

Analysis of gene network bifurcation during optic cup morphogenesis in zebrafish.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222258
Nature Communications; Buono L, Corbacho J et. al.

Jun 25th, 2021 - Sight depends on the tight cooperation between photoreceptors and pigmented cells, which derive from common progenitors through the bifurcation of a single gene regulatory network into the neural retina (NR) and retinal-pigmented epithelium (RPE) programs. Although genetic studies have identified upstream nodes controlling these networks, their regulatory logic remains poorly investigated. Here...

Single cell derived mRNA signals across human kidney tumors.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222373
Nature Communications; Young MD, Mitchell TJ et. al.

Jun 25th, 2021 - Tumor cells may share some patterns of gene expression with their cell of origin, providing clues into the differentiation state and origin of cancer. Here, we study the differentiation state and cellular origin of 1300 childhood and adult kidney tumors. Using single cell mRNA reference maps of normal tissues, we quantify reference "cellular signals" in each tumor. Quantifying global differenti...

Recent advances in critical nodes of embryo engineering technology.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8210615
Theranostics Ma Y, Gu M et. al.

Jun 24th, 2021 - The normal development and maturation of oocytes and sperm, the formation of fertilized ova, the implantation of early embryos, and the growth and development of foetuses are the biological basis of mammalian reproduction. Therefore, research on oocytes has always occupied a very important position in the life sciences and reproductive medicine fields. Various embryo engineering technologies fo...

Unexpected contribution of fibroblasts to muscle lineage as a mechanism for limb muscle...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8219714
Nature Communications; Esteves de Lima J, Blavet C et. al.

Jun 24th, 2021 - Positional information driving limb muscle patterning is contained in connective tissue fibroblasts but not in myogenic cells. Limb muscles originate from somites, while connective tissues originate from lateral plate mesoderm. With cell and genetic lineage tracing we challenge this model and identify an unexpected contribution of lateral plate-derived fibroblasts to the myogenic lineage, prefe...

Model-based prediction of spatial gene expression via generative linear mapping.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8211835
Nature Communications; Okochi Y, Sakaguchi S et. al.

Jun 19th, 2021 - Decoding spatial transcriptomes from single-cell RNA sequencing (scRNA-seq) data has become a fundamental technique for understanding multicellular systems; however, existing computational methods lack both accuracy and biological interpretability due to their model-free frameworks. Here, we introduce Perler, a model-based method to integrate scRNA-seq data with reference in situ hybridization ...

Generation of patterned kidney organoids that recapitulate the adult kidney collecting ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206157
Nature Communications; Zeng Z, Huang B et. al.

Jun 17th, 2021 - Current kidney organoids model development and diseases of the nephron but not the contiguous epithelial network of the kidney's collecting duct (CD) system. Here, we report the generation of an expandable, 3D branching ureteric bud (UB) organoid culture model that can be derived from primary UB progenitors from mouse and human fetal kidneys, or generated de novo from human pluripotent stem cel...

Altered heparan sulfate metabolism during development triggers dopamine-dependent autis...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8190083
Nature Communications; De Risi M, Tufano M et. al.

Jun 11th, 2021 - Lysosomal storage disorders characterized by altered metabolism of heparan sulfate, including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions leading to neurodegeneration and dementia in children. In lysosomal storage disorders, dementia is preceded by severe and therapy-resistant autistic-like symptoms of unknown cause. Using mouse and cellular models of MPS-IIIA, we...