×
About 4,693 results

Fmr1 exon 14 skipping in late embryonic development of the rat forebrain.
https://doi.org/10.1186/s12868-022-00711-1 10.1038/nrdp.2017.65 10.1016/bs.adgen.2020.01.001 10.1038/ng0693-147 10.1038/ng0893-335 10.1016/j.neuron.2005.07.005 10.1073/pnas.94.10.5401 10.1523/JNEUROSCI.21-14-05139.2001 10.1073/pnas.122205699 10.1073/pnas.0407533101 10.3389/neuro.04.017.2009 10.1002/dneu.22453 10.1038/ng0196-91 10.1523/JNEUROSCI.17-05-01539.1997 10.1093/hmg/ddu586 10.1016/j.neuron.2008.06.027 10.1371/journal.pone.0048741 10.1002/cne.24772 10.1002/glia.20573 10.1523/JNEUROSCI.4854-10.2011 10.1038/nn.3870 10.1038/ng0793-244 10.1093/hmg/5.1.95 10.1093/hmg/2.4.399 10.1016/j.gene.2020.144359 10.1093/hmg/ddp255 10.1016/j.nbd.2009.03.015 10.1371/journal.pone.0058296 10.1093/hmg/ddg350 10.1021/bi0525019 10.1038/s41580-019-0126-2 10.1093/hmg/5.8.1083 10.1002/j.1460-2075.1996.tb00924.x 10.1093/emboj/20.17.4803 10.1371/journal.pgen.1003890 10.1093/hmg/ddv299 10.3389/fnmol.2017.00269 10.1523/JNEUROSCI.5514-10.2011 10.1016/j.nlm.2004.11.004 10.1073/pnas.0404995101 10.1016/S0169-328X(00)00098-X 10.1523/JNEUROSCI.2185-04.2004 10.1016/j.ijdevneu.2015.02.004 10.1523/JNEUROSCI.3937-08.2009 10.1093/hmg/ddh009 10.1038/s41586-019-1338-5 10.1038/nature11737 10.4161/rna.22360 10.1002/(SICI)1096-8628(19960809)64:2<252::AID-AJMG3>3.0.CO;2-W 10.1523/JNEUROSCI.18-21-08900.1998 10.1523/JNEUROSCI.12-07-02685.1992 10.1016/0165-3806(95)00206-5 10.1523/JNEUROSCI.20-03-01260.2000 10.1006/nlme.1999.3914 10.1371/journal.pone.0030178 10.1002/wdev.290 10.1093/hmg/ddt044 10.1038/s41419-019-1517-1 10.1007/s11064-014-1471-3 10.1016/j.bbrc.2013.08.096 10.1523/ENEURO.0055-14.2014 10.1093/brain/awh650 10.1016/j.neuron.2007.07.020 10.1038/emboj.2010.21 10.1038/s41598-020-67946-y 10.1093/hmg/ddm293 10.1038/s41467-021-20979-x 10.3390/genes11040356 10.1093/nar/gkn472 10.1016/j.molcel.2016.09.025 10.1093/nar/gkac001 10.1038/s41556-020-00618-1 10.1101/gr.157354.113 10.1111/j.1601-183X.2008.00458.x 10.1186/gb-2002-3-7-research0034 10.1111/j.1601-183X.2009.00544.x 10.1038/nmeth.2089
BMC Neuroscience; Corrêa-Velloso JC, Linardi AM et. al.

Jun 2nd, 2022 - Fragile X syndrome, the major cause of inherited intellectual disability among men, is due to deficiency of the synaptic functional regulator FMR1 protein (FMRP), encoded by the FMRP translational regulator 1 (FMR1) gene. FMR1 alternative splicing produces distinct transcripts that may consequently impact FMRP functional roles. In transcripts without exon 14 the translational reading frame is s...

Recent advances in the developmental origin of neuroblastoma: an overview.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915499
Journal of Experimental & Clinical Cancer Research : CR; Ponzoni M, Bachetti T et. al.

Mar 13th, 2022 - Neuroblastoma (NB) is a pediatric tumor that originates from neural crest-derived cells undergoing a defective differentiation due to genomic and epigenetic impairments. Therefore, NB may arise at any final site reached by migrating neural crest cells (NCCs) and their progeny, preferentially in the adrenal medulla or in the para-spinal ganglia.NB shows a remarkable genetic heterogeneity includi...

BMP4 and Wnt signaling interact to promote mouse tracheal mesenchyme morphogenesis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8794023
American Journal of Physiology. Lung Cellular and Molecul... Bottasso-Arias N, Leesman L et. al.

Dec 2nd, 2021 - Tracheobronchomalacia and complete tracheal rings are congenital malformations of the trachea associated with morbidity and mortality for which the etiology remains poorly understood. Epithelial expression of Wls (a cargo receptor mediating Wnt ligand secretion) by tracheal cells is essential for patterning the embryonic mouse trachea's cartilage and muscle. RNA sequencing indicated that Wls di...

Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed populat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599455
Nature Communications; Nomaru H, Liu Y et. al.

Nov 19th, 2021 - The poles of the heart and branchiomeric muscles of the face and neck are formed from the cardiopharyngeal mesoderm within the pharyngeal apparatus. They are disrupted in patients with 22q11.2 deletion syndrome, due to haploinsufficiency of TBX1, encoding a T-box transcription factor. Here, using single cell RNA-sequencing, we now identify a multilineage primed population within the cardiophary...

From Progenitors to Progeny: Shaping Striatal Circuit Development and Function.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612473
The Journal of Neuroscience : the Official Journal of The... Knowles R, Dehorter N et. al.

Nov 19th, 2021 - Understanding how neurons of the striatum are formed and integrate into complex synaptic circuits is essential to provide insight into striatal function in health and disease. In this review, we summarize our current understanding of the development of striatal neurons and associated circuits with a focus on their embryonic origin. Specifically, we address the role of distinct types of embryoni...

Short- and Long-Term Outcomes of Prenatally Diagnosed Dandy-Walker Malformation, Vermia...
https://doi.org/10.1177/08830738211049115
Journal of Child Neurology; Venkatesan C, Kline-Fath B et. al.

Nov 11th, 2021 - Dandy-Walker continuum, which includes Dandy-Walker malformation, vermian hypoplasia, and Blake pouch cyst, is among the most commonly diagnosed posterior fossa malformation by fetal magnetic resonance imaging (MRI). The objective of our retrospective study was to evaluate fetal and postnatal MRI scan and clinical outcomes. Seventy-two patients were identified; 40 patients had postnatal imaging...

Human neural tube morphogenesis in vitro by geometric constraints.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8828633
Nature Karzbrun E, Khankhel AH et. al.

Oct 29th, 2021 - Understanding human organ formation is a scientific challenge with far-reaching medical implications1,2. Three-dimensional stem-cell cultures have provided insights into human cell differentiation3,4. However, current approaches use scaffold-free stem-cell aggregates, which develop non-reproducible tissue shapes and variable cell-fate patterns. This limits their capacity to recapitulate organ f...

SOX10: 20 years of phenotypic plurality and current understanding of its developmental ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788258
Journal of Medical Genetics; Pingault V, Zerad L et. al.

Oct 21st, 2021 - SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to cell type specification and differentiation of various lineages. The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations occurring within and around SOX10 cause Wa...

SARS-CoV-2-associated cytokine storm during pregnancy as a possible risk factor for neu...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519783
Neuropharmacology Figueiredo CP, Fontes-Dantas FL et. al.

Oct 20th, 2021 - A strong association between perinatal viral infections and neurodevelopmental disorders has been established. Both the direct contact of the virus with the developing brain and the strong maternal immune response originated by viral infections can impair proper neurodevelopment. Coronavirus disease 2019 (COVID-19), caused by the highly-infectious severe acute respiratory syndrome coronavirus 2...

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insu...
https://doi.org/10.1007/s00439-021-02380-2 10.1002/path.4809 10.1016/j.tig.2018.05.009 10.1093/humrep/15.suppl_2.189 10.1016/j.cell.2017.12.039 10.1038/ng1095-144 10.3791/4228 10.1016/j.bbagrm.2012.03.002 10.1093/gigascience/gix120 10.2147/IJWH.S37636 10.1210/en.2017-00617 10.1006/jmbi.1995.9889 10.1172/JCI128514 10.1016/j.ajhg.2019.05.007 10.1016/j.bbadis.2017.02.017 10.3791/55630 10.1016/S0021-9258(17)39184-6 10.1042/bj3430281 10.1210/en.2018-00878 10.1073/pnas.1109263108 10.1111/joim.13064 10.1038/ng0398-231 10.1055/s-0036-1585402 10.1093/bioinformatics/btp324 10.1016/j.gene.2005.03.029 10.1093/humrep/deh667 10.1101/gr.107524.110 10.1212/WNL.0000000000001036 10.1038/nsmb.2159 10.1038/ncomms4077 10.3791/50338 10.1016/j.cell.2012.02.035 10.3389/fcell.2020.00381 10.1016/j.cell.2008.06.016 10.1038/35000651 10.1002/cpmo.21 10.1038/nsmb.2160 10.1016/j.autrev.2014.01.003 10.1002/humu.22844 10.1042/EBC20170110 10.1016/j.ebiom.2020.102784 10.1002/jimd.12130 10.1016/j.ymgme.2016.07.001 10.1038/nature10354 10.1016/j.ebiom.2020.102730 10.1210/en.2019-00441 10.1038/nature11707 10.1093/oxfordjournals.humrep.a135954 10.3390/biom10081193 10.1016/j.jdermsci.2017.09.001
Human Genetics; Ullah F, Rauf W et. al.

Oct 15th, 2021 - Mitochondrial disorders are collectively common, genetically heterogeneous disorders in both pediatric and adult populations. They are caused by molecular defects in oxidative phosphorylation, failure of essential bioenergetic supply to mitochondria, and apoptosis. Here, we present three affected individuals from a consanguineous family of Pakistani origin with variable seizures and intellectua...

Larval ecology and bionomics of Anopheles funestus in highland and lowland sites in wes...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504749
PloS One; Debrah I, Afrane YA et. al.

Oct 12th, 2021 - An. funestus is a major Afrotropical vector of human malaria. This study sought to investigate the larval ecology, sporozoite infection rates and blood meal sources of An. funestus in western Kenya. Larval surveys were carried out in Bungoma (Highland) and Kombewa (lowland) of western Kenya. Aquatic habitats were identified, characterized, georeferenced and carefully examined for mosquito larva...

Neurocognitive outcomes in Malawian children exposed to malaria during pregnancy: An ob...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8478258
PLoS Medicine; Weckman AM, Conroy AL et. al.

Sep 29th, 2021 - Annually 125 million pregnancies are at risk of malaria infection. However, the impact of exposure to malaria in pregnancy on neurodevelopment in children is not well understood. We hypothesized that malaria in pregnancy and associated maternal immune activation result in neurodevelopmental delay in exposed offspring. Between April 2014 and April 2015, we followed 421 Malawian mother-baby dyads...

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-depen...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8425566
PloS One; Minenkova A, Jansen EEW et. al.

Sep 9th, 2021 - Pyridoxine-dependent epilepsy (PDE) is due to biallelic variants in ALDH7A1 (PDE-ALDH7A1). ALDH7A1 encodes α-aminoadipic semialdehyde dehydrogenase in lysine catabolism. We investigated the gamma aminobutyric acid (GABA) metabolism and energy production pathways in human PDE-ALDH7A1 and its knock-out aldh7a1 zebrafish model. We measured GABA pathway, and tricarboxylic acid cycle metabolites and...

The E3 ubiquitin ligase component, Cereblon, is an evolutionarily conserved regulator o...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421366
Nature Communications; Shen C, Nayak A et. al.

Sep 8th, 2021 - Immunomodulatory drugs (IMiDs) are important for the treatment of multiple myeloma and myelodysplastic syndrome. Binding of IMiDs to Cereblon (CRBN), the substrate receptor of the CRL4CRBN E3 ubiquitin ligase, induces cancer cell death by targeting key neo-substrates for degradation. Despite this clinical significance, the physiological regulation of CRBN remains largely unknown. Herein we demo...

Complex gastroschisis: a new indication for fetal surgery?
https://doi.org/10.1002/uog.24759
Ultrasound in Obstetrics & Gynecology : the Official Jour... Joyeux L, Belfort MA et. al.

Sep 2nd, 2021 - Gastroschisis (GS) is a congenital abdominal wall defect, in which the bowel eviscerates from the abdominal cavity. It is a non-lethal isolated anomaly and its pathogenesis is hypothesized to occur as a result of two hits: primary rupture of the 'physiological' umbilical hernia (congenital anomaly) followed by progressive damage of the eviscerated bowel (secondary injury). The second hit is tho...

Inadvertent irreversible closure of arterial duct following therapeutic use of transpla...
https://doi.org/10.1002/uog.24758
Ultrasound in Obstetrics & Gynecology : the Official Jour... Gill K, Arbic N et. al.

Aug 29th, 2021 - We report on a fetal case of Ebstein's anomaly with severe tricuspid regurgitation, functional pulmonary atresia and progressive circular shunting (CS) across a widely patent ductus arteriosus (DA) and regurgitant pulmonary valve, contributing to significant systemic hypoperfusion. To mitigate the extent of CS and allow the pregnancy to continue, maternal non-steroidal anti-inflammatory drug (N...

Developmental HCN channelopathy results in decreased neural progenitor proliferation an...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536352
Proceedings of the National Academy of Sciences of the Un... Schlusche AK, Vay SU et. al.

Aug 26th, 2021 - The development of the cerebral cortex relies on the controlled division of neural stem and progenitor cells. The requirement for precise spatiotemporal control of proliferation and cell fate places a high demand on the cell division machinery, and defective cell division can cause microcephaly and other brain malformations. Cell-extrinsic and -intrinsic factors govern the capacity of cortical ...

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...

Clinical experience with non-invasive prenatal screening for single-gene disorders.
https://doi.org/10.1002/uog.23756
Ultrasound in Obstetrics & Gynecology : the Official Jour... Mohan P, Lemoine J et. al.

Aug 7th, 2021 - To assess the performance of a non-invasive prenatal screening test (NIPT) for a panel of dominant single-gene disorders (SGD) with a combined population incidence of 1 in 600. Cell-free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next-generation sequencing, targeting 30 genes, to look for pathogenic or likely pathogenic var...

The clinical spectrum and immunopathological mechanisms underlying ZIKV-induced neurolo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8341629
PLoS Neglected Tropical Diseases; Filgueiras IS, Torrentes de Carvalho A et. al.

Aug 6th, 2021 - Since the 2015 to 2016 outbreak in America, Zika virus (ZIKV) infected almost 900,000 patients. This international public health emergency was mainly associated with a significant increase in the number of newborns with congenital microcephaly and abnormal neurologic development, known as congenital Zika syndrome (CZS). Furthermore, Guillain-Barré syndrome (GBS), a neuroimmune disorder of adult...