SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities
Cell Mol Life Sci. 2023 Dec 12;81(1):5. doi: 10.1007/s00018-023-05052-8.ABSTRACTSHP2 phosphatase promotes full activation of the RTK-dependent Ras/MAPK pathway. Its mutations can drive cancer and RASopathies, a group of neurodevelopmental disorders (NDDs). Here we ask how same residue mutations in SHP2 can lead to both cancer and NDD phenotypes, and whether we can predict what the outcome will be. We collected and analyzed mutation data from the literature and cancer databases and performed molecular dynamics simulations of SHP2 mutants. We show that both cancer and Noonan syndrome (NS, a RASopathy) mutations favor catalys...
Source: Cellular and Molecular Life Sciences : CMLS - December 12, 2023 Category: Cytology Authors: Yonglan Liu Wengang Zhang Hyunbum Jang Ruth Nussinov Source Type: research
IJERPH, Vol. 20, Pages 7166: Identifying Challenges and Solutions to Early Childhood Education and the Perceived Importance of Outdoor Time: A Mixed Methods Approach in a Socioeconomically Diverse Population
The objectives of this research were to use a mixed methods approach to identify (1) barriers and solutions to the integration of outdoor time in ECE settings, (2) if outdoor time is a priority in ECE settings compared to other ECE priorities, and (3) how socioeconomic status influences ECE priorities and barriers for outdoor time, and health outcomes. Fourteen focus groups were conducted (n = 50) in the United States (US) with participants from three stakeholder groups: outdoor educators, parents of children attending outdoor preschool, and community members with children. Participants completed a survey (n = 49) to evalu...
Source: International Journal of Environmental Research and Public Health - December 12, 2023 Category: Environmental Health Authors: Maria B. Butcher Magdalena K. Haakenstad Carolyn J. Noonan Amber L. Fyfe-Johnson Tags: Article Source Type: research
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
ConclusionGenetic analysis is a useful tool in the diagnostic workup of patients with SS, in adapting management and treatment, and in identifying syndromes with mild atypical clinical features. The role of VUS should not be underestimated, particularly when multiple VUS with possible mutual worsening effects are present in the same child. (Source: Journal of Endocrinological Investigation)
Source: Journal of Endocrinological Investigation - December 12, 2023 Category: Endocrinology Source Type: research
IJERPH, Vol. 20, Pages 7149: Outdoor Time in Childhood: A Mixed Methods Approach to Identify Barriers and Opportunities for Intervention in a Racially and Ethnically Mixed Population
The objectives of this research were to: (1) identify challenges and solutions to outdoor time for children; (2) assess the importance of outdoor time for children; and (3) evaluate results stratified by race/ethnicity. Using a convergent mixed methods approach, we conducted a thematic analysis from 14 focus groups (n = 50) with outdoor educators, parents with children attending outdoor preschools, and community members with children. In addition, 49 participants completed a survey to identify challenges and solutions, perceived importance, and culturally relevant perspectives of outdoor time. The main challenges identifie...
Source: International Journal of Environmental Research and Public Health - December 6, 2023 Category: Environmental Health Authors: Magdalena K. Haakenstad Maria B. Butcher Carolyn J. Noonan Amber L. Fyfe-Johnson Tags: Article Source Type: research
Genes, Vol. 14, Pages 2173: Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma & ndash;Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances
Genes, Vol. 14, Pages 2173: Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances
Genes doi: 10.3390/genes14122173
Authors:
Natalia Braun-Walicka
Agnieszka Pluta
Tomasz Wolak
Edyta Maj
Agnieszka Maryniak
Monika Gos
Anna Abramowicz
Aleksandra Landowska
Ewa Obersztyn
Jerzy Bal
Noonan syndrome (NS) is one of the most common genetic conditions inherited mostly in an autosomal dominant manner with vast heterogeneity in clinical and genetic features...
Source: Genes - December 3, 2023 Category: Genetics & Stem Cells Authors: Natalia Braun-Walicka Agnieszka Pluta Tomasz Wolak Edyta Maj Agnieszka Maryniak Monika Gos Anna Abramowicz Aleksandra Landowska Ewa Obersztyn Jerzy Bal Tags: Article Source Type: research
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene.PMID:38039040 | DOI:10.26355/eurrev_202311_34478 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - December 1, 2023 Category: Drugs & Pharmacology Authors: F Guglielmi F Kirschner E Staderini F Iavarone A Fiorino P Gallenzi Source Type: research
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene.PMID:38039040 | DOI:10.26355/eurrev_202311_34478 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - December 1, 2023 Category: Drugs & Pharmacology Authors: F Guglielmi F Kirschner E Staderini F Iavarone A Fiorino P Gallenzi Source Type: research
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene.PMID:38039040 | DOI:10.26355/eurrev_202311_34478 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - December 1, 2023 Category: Drugs & Pharmacology Authors: F Guglielmi F Kirschner E Staderini F Iavarone A Fiorino P Gallenzi Source Type: research
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene.PMID:38039040 | DOI:10.26355/eurrev_202311_34478 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - December 1, 2023 Category: Drugs & Pharmacology Authors: F Guglielmi F Kirschner E Staderini F Iavarone A Fiorino P Gallenzi Source Type: research
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene.PMID:38039040 | DOI:10.26355/eurrev_202311_34478 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - December 1, 2023 Category: Drugs & Pharmacology Authors: F Guglielmi F Kirschner E Staderini F Iavarone A Fiorino P Gallenzi Source Type: research
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene.PMID:38039040 | DOI:10.26355/eurrev_202311_34478 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - December 1, 2023 Category: Drugs & Pharmacology Authors: F Guglielmi F Kirschner E Staderini F Iavarone A Fiorino P Gallenzi Source Type: research
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene.PMID:38039040 | DOI:10.26355/eurrev_202311_34478 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - December 1, 2023 Category: Drugs & Pharmacology Authors: F Guglielmi F Kirschner E Staderini F Iavarone A Fiorino P Gallenzi Source Type: research
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene.PMID:38039040 | DOI:10.26355/eurrev_202311_34478 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - December 1, 2023 Category: Drugs & Pharmacology Authors: F Guglielmi F Kirschner E Staderini F Iavarone A Fiorino P Gallenzi Source Type: research
