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About 4,438 results

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...

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...

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 ...

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8244898
PLoS Genetics; Pottie L, Van Gool W et. al.

Jun 19th, 2021 - The inability to maintain a strictly regulated endo(lyso)somal acidic pH through the proton-pumping action of the vacuolar-ATPases (v-ATPases) has been associated with various human diseases including heritable connective tissue disorders. Autosomal recessive (AR) cutis laxa (CL) type 2C syndrome is associated with genetic defects in the ATP6V1E1 gene and is characterized by skin wrinkles or lo...

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...

Dissecting the Transcriptional and Chromatin Accessibility Heterogeneity of Proliferati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8132003
Investigative Ophthalmology & Visual Science; Collin J, Queen R et. al.

May 19th, 2021 - Retinoblastoma (Rb) is a malignant neoplasm arising during retinal development from mutations in the RB1 gene. Loss or inactivation of both copies of RB1 results in initiation of retinoblastoma tumors; however, additional genetic changes are needed for the continued growth and spread of the tumor. Ex vivo research has shown that in humans, retinoblastoma may initiate from RB1-depleted cone prec...

Partial congenital arrhinia: never seen before adult presentation.
https://doi.org/10.1017/S0022215121000219
The Journal of Laryngology and Otology; Malakar S, Garg N et. al.

May 18th, 2021 - Arrhinia is defined as the partial or complete absence of the nasal structures. It is a defect of embryonal origin and can be seen in association with other craniofacial anomalies, central nervous system anomalies, absence of paranasal sinuses, and other palatal and ocular abnormalities. Very few patients with arrhinia have been reported so far in the history of modern medicine. This study repo...

The phenotypic spectrum associated with OTX2 mutations in humans.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437083
European Journal of Endocrinology; Gregory LC, Gergics P et. al.

May 6th, 2021 - The transcription factor OTX2 is implicated in ocular, craniofacial, and pituitary development. We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities, study functional consequences, and establish OTX2 expression in the human brain, with a view to investigate the mechanism of action. We screened patients from the UK (n = 10...

Stereological Lung Parameters After Fetoscopic Abdominal Decompression of Congenital Di...
https://doi.org/10.1089/lap.2020.0954
Journal of Laparoendoscopic & Advanced Surgical Technique... Bergholz R, Fromm F et. al.

Apr 30th, 2021 - Background: Fetoscopic endoluminal tracheal occlusion (FETO) improves lung maturation in severe cases of congenital diaphragmatic hernia (CDH) but it does not ameliorate lung compression by herniated abdominal organs. Surgically opening the fetal abdomen (abdominal decompression [AD]) reduces the intrathoracic pressure by diverting the abdominal organs into the amniotic cavity-a probable causal...

Single-cell transcriptomics of human embryos identifies multiple sympathoblast lineages...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7610777
Nature Genetics; Kameneva P, Artemov AV et. al.

Apr 10th, 2021 - Characterization of the progression of cellular states during human embryogenesis can provide insights into the origin of pediatric diseases. We examined the transcriptional states of neural crest- and mesoderm-derived lineages differentiating into adrenal glands, kidneys, endothelium and hematopoietic tissue between post-conception weeks 6 and 14 of human development. Our results reveal transi...

A conserved role for the ALS-linked splicing factor SFPQ in repression of pathogenic cr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997972
Nature Communications; Gordon PM, Hamid F et. al.

Mar 28th, 2021 - The RNA-binding protein SFPQ plays an important role in neuronal development and has been associated with several neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Alzheimer's disease. Here, we report that loss of sfpq leads to premature termination of multiple transcripts due to widespread activation of previously unannotated cryptic...

Single-cell transcriptomic analyses provide insights into the developmental origins of ...
https://doi.org/10.1038/s41588-021-00806-1
Nature Genetics; Jansky S, Sharma AK et. al.

Mar 27th, 2021 - Neuroblastoma is a pediatric tumor of the developing sympathetic nervous system. However, the cellular origin of neuroblastoma has yet to be defined. Here we studied the single-cell transcriptomes of neuroblastomas and normal human developing adrenal glands at various stages of embryonic and fetal development. We defined normal differentiation trajectories from Schwann cell precursors over inte...

Transuterine Fetal Tracheal Occlusion Model in Mice.
https://doi.org/10.3791/61772
Journal of Visualized Experiments : JoVE; Aydın E, Joshi R et. al.

Feb 23rd, 2021 - Fetal tracheal occlusion (TO), an established treatment modality, promotes fetal lung growth and survival in severe congenital diaphragmatic hernia (CDH). Following TO, retention of the secreted epithelial fluid increases luminal pressure and induces lung growth. Various animal models have been defined to understand the pathophysiology of CDH and TO. All have their own advantages and disadvanta...

BAF subunit switching regulates chromatin accessibility to control cell cycle exit in t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7919417
Genes & Development; Braun SMG, Petrova R et. al.

Feb 20th, 2021 - mSWI/SNF or BAF chromatin regulatory complexes are dosage-sensitive regulators of human neural development frequently mutated in autism spectrum disorders and intellectual disability. Cell cycle exit and differentiation of neural stem/progenitor cells is accompanied by BAF subunit switching to generate neuron-specific nBAF complexes. We manipulated the timing of BAF subunit exchange in vivo and...

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920168
Journal of the American Society of Nephrology : JASN; Mann N, Mzoughi S et. al.

Feb 18th, 2021 - Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of children progress to renal failure. The discovery of monogenic causes of GAMOS has uncovered molecular pathways involved in the pathogenesis of disease. Homozygosity ma...

Pulmonary hypertension is an important co-morbidity in developmental lung diseases of i...
https://doi.org/10.1002/ppul.25258
Pediatric Pulmonology; Varghese NP, Tillman RH et. al.

Feb 10th, 2021 - Bronchopulmonary dysplasia (BPD) following preterm birth and congenital diaphragmatic hernia (CDH) are both forms of developmental lung disease that may result in persistent pulmonary and pulmonary vascular morbidity in childhood. The pulmonary vascular disease (PVD) which accompanies BPD and CDH is due to developmental abnormalities and ongoing perinatal insults. This may be accompanied by evi...

Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other mal...
https://doi.org/10.1002/ajmg.a.62103
American Journal of Medical Genetics. Part A; Stevenson RE

Feb 2nd, 2021 - Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenome...

Disorders of the enteric nervous system - a holistic view.
https://doi.org/10.1038/s41575-020-00385-2
Nature Reviews. Gastroenterology & Hepatology; Niesler B, Kuerten S et. al.

Jan 31st, 2021 - The enteric nervous system (ENS) is the largest division of the peripheral nervous system and closely resembles components and functions of the central nervous system. Although the central role of the ENS in congenital enteric neuropathic disorders, including Hirschsprung disease and inflammatory and functional bowel diseases, is well acknowledged, its role in systemic diseases is less understo...

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral s...
https://doi.org/10.1007/s00439-021-02255-6
Human Genetics; Tingaud-Sequeira A, Trimouille A et. al.

Jan 22nd, 2021 - Goldenhar syndrome or oculo-auriculo-vertebral spectrum (OAVS) is a complex developmental disorder characterized by asymmetric ear anomalies, hemifacial microsomia, ocular and vertebral defects. We aimed at identifying and characterizing a new gene associated with OAVS. Two affected brothers with OAVS were analyzed by exome sequencing that revealed a missense variant (p.(Asn358Ser)) in the EYA3...

Infantile hepatic hemangioma misdiagnosed by prenatal ultrasonography: A case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808497
Medicine Jin Y, Li L et. al.

Jan 21st, 2021 - The drastic differences in treatment and prognosis of infantile hepatic hemangioma (IHH) and hepatoblastoma (HBL) make accurate prenatal diagnosis imperative. The retrospective comparisons of ultrasonic features between fetal IHH and HBL have been reported before, but clinically, the differential diagnosis in utero is very difficult and can lead to prenatal misdiagnosis. A 27-year-old woman at ...