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At least 37 records · Page 2Linked to original sources
PubMed1975

Negative complementation at the notch locus of Drosophila melanogaster.

Four Abruptex alleles (AxE1, AxE2, Ax9B2, and Ax16172) have been mapped within the Notch locus. Based on their visible phenotypes and their interactions with one another and with N mutations, the Ax alleles can be divided into two groups. Heterozygous combinations of members of the same group are intermediate in phenotype compared to the respective homozygotes, whereas heterozygotes of Ax alleles from different groups exhibit negative heterosis, being much less viable and more extremely mutant than either homozygote. It is suggested that the Notch locus is a multi-functional regulator ("integrator") gene, whose product possesses both "repressor" and "activator" functions for the processes it regulates.

Animals↗
PubMed1979

Exaggerated anterior vertebral notching.

Three children with marrow-packing disorders demonstrated exaggerated anterior vertebral notches with poorly defined cortical margins. One child had thalassemia major, another had Gaucher disease, and a third had metastatic neuroblastoma. A discussion of each case and the etiology of the notches is presented.

Bone Neoplasms↗
PubMed1979

Brainstem evoked potentials to tonepips in notched noise.

Notched noise can be used to mask the frequency spread of acoustic energy in the brief tonepips that are used to elicit brainstem evoked potentials. Brainstem responses to tonepips and notched noise can therefore be used to evaluate auditory thresholds at particular frequencies. These thresholds are more frequency-specific than those obtained using tonepips alone, and are accurate to within 20 dB of the conventional audiometric thresholds.

Acoustic Stimulation↗
PubMed2025

Genetic insight into lung neuroendocrine tumors: Notch and Wnt signaling pathways as potential targets.

BACKGROUND: The molecular landscape of lung neuroendocrine neoplasms is still poorly characterized, making it difficult to develop a molecular classification and personalized therapeutic approaches. Significant clinical heterogeneity of these malignancies has been highlighted among poorly differentiated histotypes and within the subgroup of well-differentiated neuroendocrine tumors (NET). Currently, the main prognostic factors of lung NET include stage, histotype, grade, peripheral location, and demographic parameters. To gain deeper insights into the genomic underpinnings of lung NETs, we conducted a pilot investigation to uncover potential genetic mutations and copy number variations (CNVs) implicated in their pathogenesis. METHODS: Formalin-fixed, paraffin-embedded intraoperative tumor biopsies and matched peripheral blood mononuclear cell samples were collected from six consecutive patients with lung NETs. The whole exome sequencing (WES) was performed to profile germline and somatic mutations, identify novel genetic alterations, and detect CNVs. Clinical and pathological data were systematically documented at diagnosis and during follow-up. RESULTS: The WES analysis identified a subset of mutations shared between germline and somatic; some were of particular clinical interest as they were associated with tumor proliferation and potential therapeutic targets such as the genes KDM5C, ATR, COL7A1, NOTCH4, PTPRS, SMO, SPEN, SPTA1, TAF1. These mutations were predominantly linked to chromatin remodeling and were involved in critical oncogenic pathways such as Notch and Wnt signaling. CONCLUSIONS: This pilot study highlights the potential role of NGS analysis on solid biopsy in the assessment of the mutational profile of lung NET. A comparison of germline and somatic mutations is critical to identifying putative tumor driver mutations. In perspective, the enrichment of a subpopulation of cancer cells in the blood, with one or more specific mutations, is information of enormous clinical relevance, either for prognosis or therapeutic decisions. Translational studies on large prospective series are required to establish the role of liquid biopsy in lung NET.

Humans↗
PubMed2026

NOTCH3 Internal Tandem Duplication Defines a Novel Oncogenic Activation Mechanism of NOTCH Signaling.

NOTCH signaling is activated in tumors through multiple mechanisms, including mutations, gene rearrangements, and gene amplification. We report a novel activation mechanism, an internal tandem duplication (ITD) near the NOTCH3 negative regulatory region (NRR), found in a myogenic mesenchymal neoplasm. This 17-amino acid residue duplication disrupts the tightly autoinhibited structure surrounding the S2 cleavage site, resulting in ligand-independent S2 cleavage and constitutive pathway activation, as demonstrated by increased expression of the NOTCH3 target gene HES1. Cells expressing NOTCH3-ITD showed increased nuclear localization of the receptor and exhibited malignant phenotypes, including enhanced proliferation and migration. Together, these findings support the oncogenic role of NOTCH3-ITD.

Receptor, Notch3↗
PubMed1979

Mid systolic notching of the pulmonary valve in the absence of pulmonary hypertension.

In a patient with idiopathic dilatation of the pulmonary artery the pulmonary valve echogram showed a prominent mid systolic closing motion or notching indistinguishable from that seen in pulmonary hypertension. Normal right ventricular and pulmonary arterial pressures were recorded simultaneously with echocardiograms of the pulmonary valve.

Adult↗
PubMed1976

The notched articular process of C7 (dorsalization of C7).

The frequency of variation from the standard in the articular processes of C7 is very high (43.9 percent). These variations are: (1) A notch on the back of the superior articular facet. (2) Elongation the the "articular pillary" so that the posterior edge of the inferior articular process of C7 lies backward in relation to the posterior edges of the other cervical articular process. (3) A combination of both. Item 1 should not be mistaken for a fracture and item 2 should not be mistaken for a dislocation. These variants represent a partial dorsalization of C7.

Age Factors↗
PubMed1979

Level dependence of critical bandwidth: notched-noise masking paradigm.

The effect of increased stimulus level on critical bandwidth was investigated. Noise-masked, pulsed-tone thresholds were obtained by a Bekesy tracking procedure from 4 practiced normal-hearing adults at .5, 1, 2, and 4 kc/s. Tones were placed symmetrically within a band-reject region. Critical bandwidth was taken as the frequency separation between noise bands at which masked tonal threshold began to change and was found to increase fairly regularly as the spectrum level of the noise increased from 30-60 db SPL. However, the data at 60 db SPL may have been influenced a 2 and 4 kc/s by the detection of aural distortion products. The suggestion was made that when signal frequency is outside the spectral limits of the masker, critical bandwidth widens as masker level is raised; however, when signal frequency is within the spectral limits of the masker (as with a continuous noise wit no notches), critical bandwidth remains unchanged up to 80 bd SPL.

Adult↗
PubMed2026

A conserved Notch-Meis1-Pbx cascade specifies secretory progenitors into spatially diverse intestinal best4 + cells.

best4 + cells are a recently described vertebrate intestinal epithelial cell type. best4 + cells are altered in inflammatory bowel disease and colorectal cancer, suggesting that stimulation of their homeostatic replenishment may have therapeutic potential. However, the development and function of best4 + cells remain unclear. Since mice lack best4 + cells, we established zebrafish as a tractable in vivo model to observe, manipulate, and remove best4 + cells in an organismal context. We dissected best4 + cell developmental regulation in vivo from birth to differentiation and specialization, focusing on factors conserved in best4 + cells across vertebrates. Lineage tracing demonstrated that best4 + cells arise from secretory progenitors, where Notch/Dll4 signaling mediates a decision between best4 + and enterochromaffin cells by triggering meis1b expression. Following specification by meis1b, pbx3a spatially diversifies best4 + cells, which develop regional heterogeneity in gene expression, intracellular pH, and function. In vivo live imaging and removal of best4 + cells showed that best4+ cells sense luminal pH changes and extend dynamic luminal and stromal projections, but are not required to restore global luminal pH after challenge. Altogether, this study experimentally delineates best4 + cell developmental regulation and develops a genetic toolkit to examine their function in vivo, both of which will aid investigating how best4 + cells are altered or can be restored during disease.

Animals↗
PubMed1977

Suprasternal notch echocardiography. Assessment of its clinical utility in pediatric cardiology.

Echocardiographic suprasternal relationships of the transverse aortic arch (TAA), right pulmonary artery (RPA) and left atrium (Y' LAD) were validated and angiographic-echocardiographic measurement correlations were made for each structure. Normal values were determined with respect to body surface area. In normals, regardless of age or body size, mean dimensional TAA/RPA ratio was 1.2:1 and Y' LAD equaled the anterior-posterior, or Z axis, left atrial dimension (Z LAD)- TAA/RPA ratio was increased in aortic stenosis and tetralogy of Fallot and was decreased in ventricular septal defect, atrial septal defect and pulmonary stenosis. Ratio did not correlate with lesions severity as assessed by cardiac catheterization except in pulmonary stenosis. Discrepant Y' LAD values (usually increased Y' LAD and decreased Z LAD) occurred in children with various forms of heart disease. Some had sternal compression but others had normal chests. Children with pectus excavatum showed similar compression. These findings underscore the need for incorporation of a suprasternal examination into the standard echocardiographic examination of children.

Adolescent↗