keyword
MENU ▼
Read by QxMD icon Read
search

noonans disease

keyword
https://www.readbyqxmd.com/read/29214238/redox-regulation-of-a-gain-of-function-mutation-n308d-in-shp2-noonan-syndrome
#1
Luciana E S F Machado, David A Critton, Rebecca Page, Wolfgang Peti
SHP2 (Src homology 2 domain-containing protein tyrosine phosphatase 2; PTPN11) is a ubiquitous multidomain, nonreceptor protein tyrosine phosphatase (PTP) that plays an important role in diseases such as cancer, diabetes, and Noonan syndrome (NS). NS is one of the most common genetic disorders associated with congenital heart disease, and approximately half of the patients with Noonan syndrome have gain-of-function mutations in SHP2. One of the most common NS mutations is N308D. The activity of SHP2, like that of most PTPs, is reversibly inactivated by reactive oxygen species (ROS)...
November 30, 2017: ACS Omega
https://www.readbyqxmd.com/read/29211371/-primary-lymphedema
#2
Michèle Depairon, Claudia Lessert, Didier Tomson, Lucia Mazzolai
Characterized by an aplasia, hypoplasia or dysplasia of the lymphatic network, the primary lymphedema takes part of rare diseases. If 10 % of cases are congenital, the majority of them are detected before 35 years, most of the time due to an intercurrent event suh as a sprain or an infection. Although rarer, some primaries lymphedemas are family forms such the syndromes of Milroy and Meige. The primary lymphedema can also be a part of more complex malformative diseases such as Klinefelter, Turner or Noonan syndromes...
December 6, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29200190/libby-amphibole-disease-pulmonary-function-and-ct-abnormalities-in-vermiculite-miners
#3
Albert Miller, Jaime Szeinuk, Curtis W Noonan, Claudia I Henschke, Jean Pfau, Brad Black, David F Yankelevitz, Mingzhu Liang, Ying Liu, Rowena Yip, Tracy McNew, Laura Linker, Raja Flores
OBJECTIVE: This article describes radiologic and pulmonary function findings among miners exposed to Libby amphibole. Computed tomography permits the detection of the characteristic thin, lamellar pleural thickening (LPT). METHODS: Individuals who worked at the mine for a minimum of 6 months had chest CT and pulmonary function tests. RESULTS: Pleural thickening was noted in 223 (87%) of the 256 miners, parenchymal abnormalities in 49 (19%)...
December 1, 2017: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29189573/quality-of-life-and-health-utility-scores-among-canadian-traumatic-spinal-cord-injury-patients-a-national-cross-sectional-study
#4
Christian Iorio-Morin, Vanessa K Noonan, Barry White, Luc Noreau, Jean Leblond, Frédéric S Dumont, Brian K Kwon, Marcel F Dvorak, Nicolas Dea
STUDY DESIGN: National, multicenter, cross-sectional study. OBJECTIVE: The goal of this study was to provide overall quality of life (QOL) and health utility (HU) values for patients with traumatic spinal cord injury (SCI) stratified by injury level and neurological status. SUMMARY OF BACKGROUND DATA: Traumatic SCI is a leading cause of disability. Varying injury level and severity generate a spectrum of neurological dysfunction and reduction in long-term QOL...
November 17, 2017: Spine
https://www.readbyqxmd.com/read/29170230/molecular-and-cellular-reorganization-of-neural-circuits-in-the-human-lineage
#5
André M M Sousa, Ying Zhu, Mary Ann Raghanti, Robert R Kitchen, Marco Onorati, Andrew T N Tebbenkamp, Bernardo Stutz, Kyle A Meyer, Mingfeng Li, Yuka Imamura Kawasawa, Fuchen Liu, Raquel Garcia Perez, Marta Mele, Tiago Carvalho, Mario Skarica, Forrest O Gulden, Mihovil Pletikos, Akemi Shibata, Alexa R Stephenson, Melissa K Edler, John J Ely, John D Elsworth, Tamas L Horvath, Patrick R Hof, Thomas M Hyde, Joel E Kleinman, Daniel R Weinberger, Mark Reimers, Richard P Lifton, Shrikant M Mane, James P Noonan, Matthew W State, Ed S Lein, James A Knowles, Tomas Marques-Bonet, Chet C Sherwood, Mark B Gerstein, Nenad Sestan
To better understand the molecular and cellular differences in brain organization between human and nonhuman primates, we performed transcriptome sequencing of 16 regions of adult human, chimpanzee, and macaque brains. Integration with human single-cell transcriptomic data revealed global, regional, and cell-type-specific species expression differences in genes representing distinct functional categories. We validated and further characterized the human specificity of genes enriched in distinct cell types through histological and functional analyses, including rare subpallial-derived interneurons expressing dopamine biosynthesis genes enriched in the human striatum and absent in the nonhuman African ape neocortex...
November 24, 2017: Science
https://www.readbyqxmd.com/read/29165300/foxi2-a-possible-gene-contributing-to-ectodermal-dysplasia
#6
Mazen Kurban, Savo Bou Zeineddine, Lamiaa Hamie, Remi Safi, Ossama Abbas, Abdul Ghani Kibbi, Fadi Bitar, Georges Nemer
Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population...
November 22, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29120925/noonan-syndrome-an-update-on-growth-and-development
#7
Armelle Yart, Thomas Edouard
PURPOSE OF REVIEW: To provide an update on recent developments on Noonan syndrome with a special focus on endocrinology, bone, and metabolism aspects. The key issues still to be resolved and the future therapeutic perspectives will be discussed. RECENT FINDINGS: The discovery of the molecular genetic causes of Noonan syndrome and Noonan-syndrome-related disorders has permitted us to better understand the mechanisms underlying the different symptoms of these diseases and to establish genotype-phenotype correlations (in growth patterns for example)...
November 7, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29074966/mutation-specific-mechanisms-of-hyperactivation-of-noonan-syndrome-sos-molecules-detected-with-single-molecule-imaging-in-living-cells
#8
Yuki Nakamura, Nobuhisa Umeki, Mitsuhiro Abe, Yasushi Sako
Noonan syndrome (NS) is a congenital hereditary disorder associated with developmental and cardiac defects. Some patients with NS carry mutations in SOS, a guanine nucleotide exchange factor (GEF) for the small GTPase RAS. NS mutations have been identified not only in the GEF domain, but also in various domains of SOS, suggesting that multiple mechanisms disrupt SOS function. In this study, we examined three NS mutations in different domains of SOS to clarify the abnormality in its translocation to the plasma membrane, where SOS activates RAS...
October 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29050118/-gene-mutation-and-clinical-phenotype-analysis-of-patients-with-noonan-syndrome-and-hypertrophic-cardiomyopathy
#9
X H Liu, W W Ding, L Han, X R Liu, Y Y Xiao, J Yang, Y Mo
Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy...
October 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29037749/psychopathological-features-in-noonan-syndrome
#10
Francesca Perrino, Serena Licchelli, Giulia Serra, Giorgia Piccini, Cristina Caciolo, Patrizio Pasqualetti, Flavia Cirillo, Chiara Leoni, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Paolo Alfieri, Stefano Vicari
INTRODUCTION: Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset and characterization of psychiatric features in this disorder. Herein, we evaluated the prevalence of attention deficit and hyperactivity disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals with clinical and molecular diagnosis of NS...
September 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#11
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28957739/novel-mutations-and-their-genotype-phenotype-correlations-in-patients-with-noonan-syndrome-using-next-generation-sequencing
#12
Alireza Tafazoli, Peyman Eshraghi, Francesca Pantaleoni, Rahim Vakili, Morteza Moghaddassian, Martha Ghahraman, Valentina Muto, Stefano Paolacci, Fatemeh Fardi Golyan, Mohammad Reza Abbaszadegan
PURPOSE: Noonan Syndrome (NS) is an autosomal dominant disorder with many variable and heterogeneous conditions. The genetic basis for 20-30% of cases is still unknown. This study evaluates Iranian Noonan patients both clinically and genetically for the first time. MATERIALS/METHODS: Mutational analysis of PTPN11 gene was performed in 15 Iranian patients, using PCR and Sanger sequencing at phase one. Then, as phase two, Next Generation Sequencing (NGS) in the form of targeted resequencing was utilized for analysis of exons from other related genes...
September 26, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28945734/heart-and-lung-complications-assessment-and-prevention-of-venous-thromboembolism-and-cardiovascular-disease-in-patients-with-multiple-myeloma%C3%A2
#13
Kimberly Noonan, Sandra Rome, Beth Faiman, Daniel Verina
BACKGROUND: Venous thromboembolism (VTE) and cardiovascular (CV) disease can occur in patients with multiple myeloma. Although VTE and CV disease are separate medical conditions, they can be serious and even life-threatening.
. OBJECTIVES: The objectives of this article are to describe risk factors for cancer-associated VTE, describe the influence of CV disease on patients with multiple myeloma, and review the approaches to VTE and CV disease identification and treatment...
October 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28945729/bone-health-pain-and-mobility-evidence-based-recommendations-for-patients-with-multiple-myeloma%C3%A2
#14
Sandra Rome, Kimberly Noonan, Page Bertolotti, Joseph D Tariman, Teresa Miceli
BACKGROUND: About 85% of patients with multiple myeloma develop bone disease. In these patients, lytic bone lesions can cause fractures, poor circulation, blood clots, pain, poor mobility, and decreased quality of life.
. OBJECTIVES: This article presents consensus statements to guide nurses in the assessment and management of bone disease, pain, and mobility in patients with multiple myeloma at varying points in their disease trajectory.
. METHODS: Members of the International Myeloma Foundation Nurse Leadership Board reviewed previously provided recommendations, current recommendations based on literature review, and evidence-based grading...
October 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28942122/clcn7-f318l-as-a-new-mouse-model-of-albers-sch%C3%A3-nberg-disease
#15
J Caetano-Lopes, S G Lessard, S Hann, K Espinoza, K S Kang, K E Lim, D J Horan, H R Noonan, D Hu, R Baron, A G Robling, M L Warman
Dominant negative mutations in CLCN7, which encodes a homodimeric chloride channel needed for matrix acidification by osteoclasts, cause Albers-Schönberg disease (also known as autosomal dominant osteopetrosis type 2). More than 25 different CLCN7 mutations have been identified in patients affected with Albers-Schönberg disease, but only one mutation (Clcn7(G213R)) has been introduced in mice to create an animal model of this disease. Here we describe a mouse with a different osteopetrosis-causing mutation (Clcn7(F318L))...
September 20, 2017: Bone
https://www.readbyqxmd.com/read/28933290/nutraceuticals-and-repurposed-drugs-of-phytochemical-origin-in-prevention-and-interception-of-chronic-degenerative-disease-and-cancer
#16
Adriana Albini, Barbara Bassani, Denisa Baci, Katiuscia Dallaglio, Matteo Gallazzi, Paola Corradino, Antonino Bruno, Douglas M Noonan
Chronic, degenerative diseases are often characterized by inflammation and aberrant angiogenesis. For many of these pathologies, including rheumatoid arthritis, cardiovascular and autoimmune diseases, cancer, diabetes, and obesity, current therapies have limited efficacy, thus the validation of novel (chemo)preventive and interceptive approaches, of new or repurposed agents, alone or in combination with registered drugs, are urgently required. Phytochemicals (triterpenoids, flavonoids, retinoids) and their derivatives, non-steroidal anti-inflammatory drugs (aspirin) as well as biguanides (metformin and phenformin) originally developed from phytochemical backbones, are multi-target agents showing anti-angiogenic and anti-anti-inflammatory proprieties...
September 20, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28911943/heterozygous-deletion-of-akt1-rescues-cardiac-contractility-but-not-hypertrophy-in-a-mouse-model-of-noonan-syndrome-with-multiple-lentigines
#17
Rajika Roy, Maike Krenz
Noonan Syndrome with Multiple Lentigines (NSML) is associated with congenital heart disease in form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Genetically, NSML is primarily caused by mutations in the non-receptor protein tyrosine phosphatase SHP2. Importantly, certain SHP2 mutations such as Q510E can cause a particularly severe form of HCM with heart failure in infancy. Due to lack of insight into the underlying pathomechanisms, an effective custom-tailored therapy to prevent heart failure in these patients has not yet been found...
November 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28873355/pulmonary-interstitial-glycogenosis-associated-with-a-spectrum-of-neonatal-pulmonary-disorders
#18
Ernest Cutz, Rose Chami, Sharon Dell, Jacob Langer, David Manson
Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the interstitium by spindle-shaped cells with pale cytoplasm that, on electron microscopy (EM), are poorly differentiated mesenchymal cells containing abundant monoparticulate glycogen. This glycogenosis appears to be a transient abnormality, usually with a favorable prognosis...
October 2017: Human Pathology
https://www.readbyqxmd.com/read/28828065/regenerate-bone-fracture-rate-following-femoral-lengthening-in-paediatric-patients
#19
N G Burke, A J Cassar-Gheiti, J Tan, G McHugh, B J O'Neil, M Noonan, D Moore
PURPOSE: Femoral lengthening using a circular or mono-lateral frame is a commonly used technique. Fracture at the site of the regenerate bone is a major concern especially following removal of the external fixator. This aim of this study was to assess the rate of fracture of the regenerate bone in this single surgeon series of paediatric patients and determine potential risk factors. METHODS: Retrospective review of all the femoral lengthening performed by the senior author was performed...
June 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28777851/-analysis-of-genomic-copy-number-variations-in-36-fetuses-with-heart-malformations-using-next-generation-sequencing
#20
Ming Gao, Hong Pang, Yanhui Zhao, Jesse Li-Ling
OBJECTIVE: To explore the implications of copy number variations (CNVs) for congenital heart diseases (CHD) in fetuses. METHODS: G-banding karyotype analysis and next-generation sequencing (NGS) technology were performed on cord blood samples derived from 36 fetuses with CHD. Pathological implication of the CNVs was explored through comparison against the International Genomic Polymorphism Database (http://www.ebi.ac.uk/dgva/), Phenotype Database (http://decipher...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
keyword
keyword
89674
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"