Results 41 to 50 of about 416,381 (343)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Comprehensive single cell transcriptome lineages of a proto-vertebrate

open access: yesNature, 2019
Ascidian embryos highlight the importance of cell lineages in animal development. As simple proto-vertebrates, they also provide insights into the evolutionary origins of cell types such as cranial placodes and neural crest cells. Here we have determined
Chen Cao   +9 more
semanticscholar   +1 more source

Inhibitor of DNA binding‐1 is a key regulator of cancer cell vasculogenic mimicry

open access: yesMolecular Oncology, EarlyView.
Elevated expression of transcriptional regulator inhibitor of DNA binding 1 (ID1) promoted cancer cell‐mediated vasculogenic mimicry (VM) through regulation of pro‐angiogenic and pro‐cancerous genes (e.g. VE‐cadherin (CDH5), TIE2, MMP9, DKK1). Higher ID1 expression also increased metastases to the lung and the liver.
Emma J. Thompson   +11 more
wiley   +1 more source

Ensembl Genomes 2018: an integrated omics infrastructure for non-vertebrate species

open access: yesNucleic Acids Res., 2017
Ensembl Genomes (http://www.ensemblgenomes.org) is an integrating resource for genome-scale data from non-vertebrate species, complementing the resources for vertebrate genomics developed in the Ensembl project (http://www.ensembl.org). Together, the two
P. Kersey   +45 more
semanticscholar   +1 more source

Regeneration in Vertebrates

open access: yesDevelopmental Biology, 2000
One way or another, all species possess the ability to regenerate damaged tissues. The degree of regeneration, however, varies considerably among tissues within a body and among species, with urodeles being the most spectacular. Such differences in regenerative capacity are indicative of specific mechanisms that control the different types of ...
openaire   +3 more sources

Landscape of BRAF transcript variants in human cancer

open access: yesMolecular Oncology, EarlyView.
We investigate the annotation of BRAF variants, focusing on protein‐coding BRAF‐220 (formerly BRAF‐reference) and BRAF‐204 (BRAF‐X1). The IsoWorm pipeline allows us to quantify these variants in human cancer, starting from RNA‐sequencing data. BRAF‐204 is more abundant than BRAF‐220 and impacts patient survival.
Maurizio S. Podda   +5 more
wiley   +1 more source

High‐altitude adaptation in vertebrates as revealed by mitochondrial genome analyses

open access: yesEcology and Evolution, 2021
The high‐altitude environment may drive vertebrate evolution in a certain way, and vertebrates living in different altitude environments might have different energy requirements.
Xibao Wang   +9 more
doaj   +1 more source

Vertebral deformities as predictors of non-vertebral fractures [PDF]

open access: yesBMJ, 1994
The estimated number of people fracturing a hip will increase from 1.7 million in 1990 to 6.3 million in 2050.1 It is therefore important to identify risk factors.2 Previous vertebral fractures have been shown to increase the risk of subsequent vertebral fractures.3 The degree of spinal deformity may, however, indicate the bone quality of the whole ...
H. Burger   +7 more
openaire   +3 more sources

Development of 4T1 breast cancer mouse model system for preclinical carbonic anhydrase IX studies

open access: yesFEBS Open Bio, EarlyView.
Carbonic anhydrase IX (CAIX) is a well‐recognised therapeutic target and prognostic biomarker in cancer. We developed and characterised a robust murine breast cancer model system that is suitable for CAIX studies in vitro and in vivo—it comprises both CAIX‐positive and CAIX‐negative controls and provides a solid platform for the comprehensive ...
Zane Kalniņa   +13 more
wiley   +1 more source

Is 21st century neuroscience too focussed on the rat/mouse model of brain function and dysfunction?

open access: yesFrontiers in Neuroanatomy, 2008
Studies in the basic neurosciences are heavily reliant upon rat and mouse models. The brain is one of the most distinguishing features of the human species, but is enough being done to fully understand the evolution of the human brain and brain ...
Paul Manger   +7 more
doaj   +1 more source

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