Results 81 to 90 of about 107,221 (257)
Cells, 2020 Myelin basic protein (MBP) is located in the insulating covers of nerve cells in the brain and spinal cord. By interacting with lipid membranes, it is responsible for compaction of the myelin sheath in the central nervous system, which is weakened in ...
Jennica Träger +4 more
doaj +1 more source
MAGEA6 Engages a YY1‐Dependent Transcription to Dictate Perineural Invasion in Colorectal Cancer
Advanced Science, EarlyView.This study investigates the role of MAGEA6 in perineural invasion (PNI) in colorectal cancer (CRC). MAGEA6 promotes CRC invasiveness by inhibiting YY1 ubiquitination, enhancing CXCL1 secretion, and recruiting Schwann cells. These findings highlight the potential of targeting the MAGEA6/YY1/CXCL1 axis for therapeutic strategies against PNI and tumor ...
Hao Wang +9 more
wiley +1 more source
Derivation of cable equation by multiscale analysis for a model of myelinated axons [PDF]
arXiv, 2018 The paper concerns the multiscale modeling of a myelinated axon. Taking into account the microstructure with alternating myelinated parts and nodes Ranvier, we derive a nonlinear cable equation describing the potential propagation along the axon.
arxiv
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi +7 more
wiley +1 more source
Embedding protein 3D-structures in a cubic lattice. I. The basic algorithms [PDF]
arXiv, 2010 Realistic 3D-conformations of protein structures can be embedded in a cubic lattice using exclusively integer numbers, additions, subtractions and boolean operations.
arxiv
Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé +5 more
wiley +1 more source
Lethal adulthood myelin breakdown by oligodendrocyte-specific Ddx54 knockout
iScience, 2023 Summary: Multiple sclerosis (MS) is a leading disease that causes disability in young adults. We have previously shown that a DEAD-box RNA helicase Ddx54 binds to mRNA and protein isoforms of myelin basic protein (MBP) and that Ddx54 siRNA blocking ...
Hiroaki Oizumi +10 more
doaj
Peripheral nerve pathology in sickle cell disease mice
PAIN Reports, 2019 . Introduction:. Many patients with sickle cell disease (SCD) suffer from chronic pain, which is often described as neuropathic in nature. Although vascular and inflammatory pathology undoubtedly contribute to the SCD pain experience, the nociceptive ...
Katelyn E. Sadler +4 more
doaj +1 more source