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Rasopathies

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https://www.readbyqxmd.com/read/29762158/recent-advances-in-the-diagnosis-and-pathogenesis-of-neurofibromatosis-type-1-nf1-associated-peripheral-nervous-system-neoplasms
#1
Jody F Longo, Shannon M Weber, Brittany P Turner-Ivey, Steven L Carroll
The diagnosis of a neurofibroma or a malignant peripheral nerve sheath tumor (MPNST) often raises the question of whether the patient has the genetic disorder neurofibromatosis type 1 (NF1) as well as how this will impact the patient's outcome, what their risk is for developing additional neoplasms and whether treatment options differ for NF1-associated and sporadic peripheral nerve sheath tumors. Establishing a diagnosis of NF1 is challenging as this disorder has numerous neoplastic and non-neoplastic manifestations which are variably present in individual patients...
May 4, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29752777/study-of-ras-mapk-pathway-gene-variants-in-chilean-patients-with-cryptorchidism
#2
F Rodríguez, C Vallejos, D Ponce, N Unanue, M I Hernández, S Célis, K Arcos, F Belmar, M T López, F Cassorla
Cryptorchidism is one of the most common congenital disorders in boys, and several genetic, hormonal, and environmental factors have been proposed as possible causes for this genitourinary defect. Genetic factors have been intensively searched, but relatively few pathogenic variants have been described. Cryptorchidism is a frequent finding in patients with RASopathies, a group of syndrome caused by mutations in genes of the Ras/MAPK pathway. Our aim was to determine whether patients with isolated cryptorchidism (IC) exhibit Ras/MAPK pathway gene variants associated with RASopathies...
May 11, 2018: Andrology
https://www.readbyqxmd.com/read/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#3
REVIEW
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29737035/systemic-lupus-erythematosus-in-a-patient-with-noonan-syndrome-like-disorder-with-loose-anagen-hair-1-more-than-a-chance-association
#4
Tomoko Uehara, Naoki Hosogaya, Nobutake Matsuo, Kenjiro Kosaki
Systemic lupus erythematosus (SLE) has been reported among patients with RASopathy. Five patients have been reported: three with SHOC2 variants, one with a PTPN11 variant, and one with a KRAS variant. SHOC2 variant might represent a relatively common predisposing factor for SLE among the RASopathy genes. However, the clinical details were only reported for two patients, while information on the remaining patient appeared only in a tabular format with minimal clinical description. Here, we report a patient with a SHOC2 variant and SLE...
May 7, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29704308/a-sibling-pair-with-cardiofaciocutaneous-syndrome-cfc-secondary-to-braf-mutation-with-unaffected-parents-the-first-cases-of-gonadal-mosaicism-in-cfc
#5
Sarah Geoghegan, Graham King, Jennifer Henchliffe, Simon C Ramsden, Raymond J Barry, Andrew J Green, Susan M O'Connell
Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by intellectual disability, congenital heart defects, a characteristic facial appearance, gastro-intestinal complications, ectodermal abnormalities and growth failure. The RASopathies result from germline mutations in the Ras/Mitogen-activated-protein-kinase (MAPK) pathway. CFC is associated with mutations in BRAF, KRAS, MEK1 and MEK2. CFC has been considered a "sporadic" disorder, with minimal recurrence risk to siblings. In recent years, vertical transmission of CFC has been seen in mutations involving the MEK2 and KRAS genes, but has not previously been reported with BRAF mutations...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696744/ngs-testing-for-cardiomyopathy-utility-of-adding-rasopathy-associated-genes
#6
Ozge Ceyhan-Birsoy, Maya M Miatkowski, Elizabeth Hynes, Birgit H Funke, Heather Mason-Suares
RASopathies include a group of syndromes caused by pathogenic germline variants in RAS-MAPK pathway genes and typically present with facial dysmorphology, cardiovascular disease, and musculoskeletal anomalies. Recently, variants in RASopathy-associated genes have been reported in individuals with apparently non-syndromic cardiomyopathy, suggesting that subtle features may be overlooked. To determine the utility and burden of adding RASopathy-associated genes to cardiomyopathy panels, we tested 11 RASopathy-associated genes by next generation sequencing (NGS), including NGS-based copy number variant assessment, in 1,111 individuals referred for genetic testing for hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM)...
April 25, 2018: Human Mutation
https://www.readbyqxmd.com/read/29693080/nevus-anemicus-and-rasopathies
#7
Charlotte Bulteel, Marie-Anne Morren, Petra De Haes, Ellen Denayer, Eric Legius, Hilde Brems
No abstract text is available yet for this article.
May 2018: JAAD Case Reports
https://www.readbyqxmd.com/read/29683947/encephalocraniocutaneous-lipomatosis
#8
Abhishek Bavle, Rikin Shah, Naina Gross, Theresa Gavula, Alejandro Ruiz-Elizalde, Klaas Wierenga, Rene McNall-Knapp
A 5-year-old boy presented with worsening headaches for 3 months. On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue masses on the right side of his face, neck, mandible and right buttock and epibulbar dermoid of the right eye (choristoma) (Figs. 1A, B). Magnetic resonance imaging revealed a large suprasellar mass, which was debulked and found to be a pilocytic astrocytoma. Testing was not performed for the BRAF/KIAA1549 fusion or BRAFV600E mutation...
April 20, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29659143/rasopathies-are-associated-with-a-distinct-personality-profile
#9
Varoona Bizaoui, Jessica Gage, Rita Brar, Katherine A Rauen, Lauren A Weiss
Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls...
April 16, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29622558/characteristic-mr-imaging-findings-of-the-neonatal-brain-in-rasopathies
#10
M N Cizmeci, M Lequin, K D Lichtenbelt, D Chitayat, P Kannu, A G James, F Groenendaal, E Chakkarapani, S Blaser, L S de Vries
BACKGROUND AND PURPOSE: Neuroimaging features in neonates with RASopathies are rarely reported, and to date, there are no neuroimaging studies conducted in this population. Our aim was to investigate the occurrence of supratentorial and posterior fossa abnormalities on brain MRIs of neonates with a RASopathy. MATERIALS AND METHODS: An observational case-control study of neonates with a confirmed RASopathy was conducted. The presence of an intraventricular and/or parenchymal hemorrhage and punctate white matter lesions and assessments of the splenium of the corpus callosum, gyrification of the cortical gray matter, and enlargement of the extracerebral space were noted...
April 5, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29590634/-mek1-y130c-mice-recapitulate-aspects-of-human-cardio-facio-cutaneous-syndrome
#11
Rifdat Aoidi, Nicolas Houde, Kim Landry-Truchon, Michael Holter, Kevin Jacquet, Louis Charron, Suguna Rani Krishnaswami, Benjamin D Yu, Katherine A Rauen, Nicolas Bisson, Jason Newbern, Jean Charron
The RAS/MAPK signaling pathway is one of the most investigated pathways, owing to its established role in numerous cellular processes and implication in cancer. Germline mutations in genes encoding members of the RAS/MAPK pathway also cause severe developmental syndromes collectively known as RASopathies. These syndromes share overlapping characteristics, including craniofacial dysmorphology, cardiac malformations, cutaneous abnormalities and developmental delay. Cardio-facio-cutaneous syndrome (CFC) is a rare RASopathy associated with mutations in BRAF , KRAS , MEK1 ( MAP2K1 ) and MEK2 ( MAP2K2 )...
March 13, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29541661/data-on-cardiac-defects-morbidity-and-mortality-in-patients-affected-by-rasopathies-carnet-study-results
#12
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, Maria Cristina Digilio, Anwar Baban, Sonia B Albanese, Paolo Versacci, Enrica De Luca, Giovanni B Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P Kaski, Giulia Tuo, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed...
February 2018: Data in Brief
https://www.readbyqxmd.com/read/29525650/clinical-presentation-and-natural-history-of-hypertrophic-cardiomyopathy-in-rasopathies
#13
REVIEW
Giulio Calcagni, Rachele Adorisio, Simone Martinelli, Giorgia Grutter, Anwar Baban, Paolo Versacci, Maria Cristina Digilio, Fabrizio Drago, Bruce D Gelb, Marco Tartaglia, Bruno Marino
RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29493581/clingen-s-rasopathy-expert-panel-consensus-methods-for-variant-interpretation
#14
Bruce D Gelb, Hélène Cavé, Mitchell W Dillon, Karen W Gripp, Jennifer A Lee, Heather Mason-Suares, Katherine A Rauen, Bradley Williams, Martin Zenker, Lisa M Vincent
PurposeStandardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain working groups (CDWGs) are systematically reviewing disease-associated genes for sufficient evidence to support disease causality and creating disease-specific specifications of American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines for consistent and accurate variant classification.MethodsThe ClinGen RASopathy CDWG established an expert panel to curate gene information and generate gene- and disease-specific specifications to ACMG-AMP variant classification framework...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29445579/patient-with-confirmed-leopard-syndrome-developing-multiple-melanoma
#15
Caroline Colmant, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D)...
January 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29441747/the-complexity-of-pediatric-multifocal-atrial-tachycardia-and-its-prognostic-factors
#16
Seung Min Baek, Hyun Chung, Mi Kyoung Song, Eun Jung Bae, Gi Beom Kim, Chung Il Noh
BACKGROUND AND OBJECTIVES: Multifocal atrial tachycardia (MAT), in general, has a favorable outcome. However, there are insufficient data regarding MAT in a pediatric population. This study sought to determine the clinical course of MAT and identify potential prognostic factors. METHODS: The medical records of MAT patients from 1997-2015 were reviewed. The arrhythmia control rate and factors for unfavorable outcomes were assessed and compared to those in the literature...
February 2018: Korean Circulation Journal
https://www.readbyqxmd.com/read/29402968/integrating-functional-analysis-in-the-next-generation-sequencing-diagnostic-pipeline-of-rasopathies
#17
Gordon K C Leung, H M Luk, Vincent H M Tang, W W Gao, Christopher C Y Mak, Mullin H C Yu, W L Wong, Yoyo W Y Chu, W L Yang, Wilfred H S Wong, Alvin C H Ma, Anskar Y H Leung, D Y Jin, Kelvin Y K Chan, Judith Allanson, Ivan F M Lo, Brian H Y Chung
RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS), sequencing capacity is no longer a limitation to molecular diagnosis. Instead, the rising number of variants of unknown significance (VUSs) poses challenges to clinical interpretation and genetic counselling. We investigated the potential of an integrated pipeline combining NGS and the functional assessment of variants for the diagnosis of RASopathies...
February 5, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29335026/congenital-anomalies-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#18
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen
BACKGROUND: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 were evaluated. METHODS: One thousand four hundred ten patients with NF1 were identified by searching the medical records related to inpatient and outpatient hospital visits of patients with an associated diagnosis for NF1 in 1987-2011...
January 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29316280/giant-congenital-melanocytic-nevus-with-vascular-malformation-and-epidermal-cysts-associated-with-a-somatic-activating-mutation-in-braf
#19
Heather C Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frédéric Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas Macagno, Sven Krengel
Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year-old patient with a giant congenital melanocytic nevus (CMN) of the lower back, buttocks, and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it...
May 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29314428/mosaic-nrasopathy-n-a-child-with-giant-melanocytic-congenital-naevus-epidermal-hamartoma-and-bilateral-nephroblastomatosis-clinical-implication-for-follow-up
#20
LETTER
C Maridet, F Morice-Picard, A Gros, L Crivelli, A de la Fouchardière, B Vergier, A Taïeb
No abstract text is available yet for this article.
January 5, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
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