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[PMID]:28748642
[Au] Autor:Kruszka P; Porras AR; Addissie YA; Moresco A; Medrano S; Mok GTK; Leung GKC; Tekendo-Ngongang C; Uwineza A; Thong MK; Muthukumarasamy P; Honey E; Ekure EN; Sokunbi OJ; Kalu N; Jones KL; Kaplan JD; Abdul-Rahman OA; Vincent LM; Love A; Belhassan K; Ouldim K; El Bouchikhi I; Shukla A; Girisha KM; Patil SJ; Sirisena ND; Dissanayake VHW; Paththinige CS; Mishra R; Klein-Zighelboim E; Gallardo Jugo BE; Chávez Pastor M; Abarca-Barriga HH; Skinner SA; Prijoles EJ; Badoe E; Gill AD; Shotelersuk V; Smpokou P; Kisling MS; Ferreira CR; Mutesa L; Megarbane A; Kline AD; Kimball A; Okello E; Lwabi P; Aliku T; Tenywa E
[Ad] Endereço:Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
[Ti] Título:Noonan syndrome in diverse populations.
[So] Source:Am J Med Genet A;173(9):2323-2334, 2017 Sep.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.
[Mh] Termos MeSH primário: Face/fisiopatologia
Genética Populacional
Síndrome de Noonan/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Africano/genética
Grupo com Ancestrais do Continente Asiático
Criança
Grupo com Ancestrais do Continente Europeu/genética
Feminino
Seres Humanos
Masculino
Quinases de Proteína Quinase Ativadas por Mitógeno/genética
Síndrome de Noonan/fisiopatologia
Transdução de Sinais
Proteínas ras/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.12.2 (Mitogen-Activated Protein Kinase Kinases); EC 3.6.5.2 (ras Proteins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171203
[Lr] Data última revisão:
171203
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38362


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[PMID]:28594414
[Au] Autor:Altmüller F; Lissewski C; Bertola D; Flex E; Stark Z; Spranger S; Baynam G; Buscarilli M; Dyack S; Gillis J; Yntema HG; Pantaleoni F; van Loon RL; MacKay S; Mina K; Schanze I; Tan TY; Walsh M; White SM; Niewisch MR; García-Miñaúr S; Plaza D; Ahmadian MR; Cavé H; Tartaglia M; Zenker M
[Ad] Endereço:Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
[Ti] Título:Genotype and phenotype spectrum of NRAS germline variants.
[So] Source:Eur J Hum Genet;25(7):823-831, 2017 Jun.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly conserved RAS-MAPK signalling pathway that lead to dysregulation of cell signal transmission. Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants). A small number of RASopathy cases with disease-causing germline NRAS alterations have been reported. Affected individuals exhibited features fitting Noonan syndrome, and the observed germline variants differed from the typical oncogenic NRAS changes occurring as somatic events in tumours. Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS. Importantly, four of them harbored missense changes affecting Gly12, which was previously described to occur exclusively in cancer. The phenotype in our cohort was variable but well within the RASopathy spectrum. Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. With this report, we expand the genotype and phenotype spectrum of RASopathy-associated germline NRAS variants and provide evidence that NRAS variants do not spare the cancer-associated mutation hotspots.
[Mh] Termos MeSH primário: Síndrome de Costello/genética
Displasia Ectodérmica/genética
Insuficiência de Crescimento/genética
GTP Fosfo-Hidrolases/genética
Mutação em Linhagem Germinativa
Cardiopatias Congênitas/genética
Proteínas de Membrana/genética
Síndrome de Noonan/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Síndrome de Costello/patologia
Displasia Ectodérmica/patologia
Facies
Insuficiência de Crescimento/patologia
Feminino
Genótipo
Cardiopatias Congênitas/patologia
Seres Humanos
Lactente
Recém-Nascido
Masculino
Mutação de Sentido Incorreto
Síndrome de Noonan/patologia
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Proteins); EC 3.6.1.- (GTP Phosphohydrolases); EC 3.6.1.- (NRAS protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2017.65


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[PMID]:28483241
[Au] Autor:van Nierop JWI; van Trier DC; van der Burgt I; Draaisma JMT; Mylanus EAM; Snik AF; Admiraal RJC; Kunst HPM
[Ad] Endereço:Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Josephine.vannierop@radboudumc.nl.
[Ti] Título:Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.
[So] Source:Int J Pediatr Otorhinolaryngol;97:228-234, 2017 Jun.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Existing literature only reports a few patients with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) who underwent cochlear implantation (CI). The present study describes four NS patients and one NSML patient with a PTPN11 mutation. They all had severe to profound hearing loss, and they received a CI. The age at which the CI surgery occurred ranged from 1 to 13 years old, and the audiological results in all five patients improved after the CI. Otological and audiological examinations in NS and NSML are important, and for those with severe hearing loss, the CI surgery improved the audiological outcome regardless of age.
[Mh] Termos MeSH primário: Implante Coclear/métodos
Perda Auditiva/cirurgia
Síndrome LEOPARD/terapia
Síndrome de Noonan/terapia
Proteína Tirosina Fosfatase não Receptora Tipo 11/genética
[Mh] Termos MeSH secundário: Adolescente
Audiometria
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Síndrome LEOPARD/genética
Masculino
Mutação
Síndrome de Noonan/diagnóstico
Síndrome de Noonan/genética
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.3.48 (PTPN11 protein, human); EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 11)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170718
[Lr] Data última revisão:
170718
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170510
[St] Status:MEDLINE


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[PMID]:28414188
[Au] Autor:Coe RR; McKinnon ML; Tarailo-Graovac M; Ross CJ; Wasserman WW; Friedman JM; Rogers PC; van Karnebeek CDM
[Ad] Endereço:Department of Medical Genetics, University of British Columbia, Vancouver, Canada; British Columbia Children's Hospital Research Institute, Vancouver, Canada.
[Ti] Título:A case of splenomegaly in CBL syndrome.
[So] Source:Eur J Med Genet;60(7):374-379, 2017 Jul.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric clinical setting. CLINICAL REPORT: A 7-year-old boy presented with unexplained splenomegaly, attention deficit hyperactivity disorder, mild learning difficulties, easy bruising, mild thrombocytopenia, and subtle dysmorphic features. Extensive haematological testing including a bone marrow biopsy showed mild megaloblastoid erythropoiesis and borderline fibrosis. There were no haematological cytogenetic anomalies or other haematological pathology to explain the splenomegaly. Metabolic testing and chromosomal microarray were unremarkable. Trio whole-exome sequencing (WES) identified a pathogenic de novo heterozygous germline CBL variant (c.1111T > C, p.Y371H), previously reported to cause CBL syndrome and implicated in development of juvenile myelomonocytic leukemia (JMML). DISCUSSION: CBL syndrome (more formally known as "Noonan-syndrome-like disorder with or without juvenile myelomonocytic leukemia") has overlapping features to Noonan syndrome with significant variability. CBL syndrome and other RASopathy disorders-including Noonan syndrome, neurofibromatosis 1, and Costello syndrome-are important to recognize as these are associated with a cancer-predisposition. CBL syndrome carries a very high risk for JMML, thus accurate diagnosis is of utmost importance. The diagnosis of CBL syndrome in this patient would not have been possible based on clinical features alone. Through WES, a specific genetic diagnosis was made, allowing for an optimized management and surveillance plan, illustrating the power of genomics in clinical practice.
[Mh] Termos MeSH primário: Mutação em Linhagem Germinativa
Granuloma de Células Gigantes/genética
Síndrome de Noonan/genética
Proteínas Proto-Oncogênicas c-cbl/genética
Esplenomegalia/genética
[Mh] Termos MeSH secundário: Criança
Granuloma de Células Gigantes/diagnóstico
Seres Humanos
Masculino
Síndrome de Noonan/diagnóstico
Esplenomegalia/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.2.27 (Proto-Oncogene Proteins c-cbl); EC 6.3.2.- (CBL protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170418
[St] Status:MEDLINE


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[PMID]:28378436
[Au] Autor:Piccini G; Menghini D; D'Andrea A; Caciolo C; Pontillo M; Armando M; Perrino F; Mandolesi L; Salerni A; Buzzonetti L; Digilio MC; Zampino G; Tartaglia M; Benassi M; Vicari S; Alfieri P
[Ad] Endereço:Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[Ti] Título:Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome.
[So] Source:Genes Brain Behav;16(6):627-634, 2017 Jul.
[Is] ISSN:1601-183X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Ventral and dorsal streams are visual pathways deputed to transmit information from the photoreceptors of the retina to the lateral geniculate nucleus and then to the primary visual cortex (V1). Several studies investigated whether one pathway is more vulnerable than the other during development, and whether these streams develop at different rates. The results are still discordant. The aim of the present study was to understand the functionality of the dorsal and the ventral streams in two populations affected by different genetic disorders, Noonan syndrome (NS) and 22q11.2 deletion syndrome (22q11.2DS), and explore the possible genotype-phenotype relationships. 'Form coherence' abilities for the ventral stream and 'motion coherence' abilities for the dorsal stream were evaluated in 19 participants with NS and 20 participants with 22q11.2DS. Collected data were compared with 55 age-matched controls. Participants with NS and 22q11.2DS did not differ in the form coherence task, and their performance was significantly lower than that of controls. However, in the motion coherence task, the group with NS and controls did not differ, and both obtained significantly higher scores than the group with 22q11.2DS. Our findings indicate that deficits in the dorsal stream are related to the specific genotype, and that in our syndromic groups the ventral stream is more vulnerable than the dorsal stream.
[Mh] Termos MeSH primário: Síndrome da Deleção 22q11/fisiopatologia
Síndrome de Noonan/fisiopatologia
Percepção Visual
[Mh] Termos MeSH secundário: Encéfalo/fisiopatologia
Criança
Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE
[do] DOI:10.1111/gbb.12381


  6 / 1404 MEDLINE  
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[PMID]:28357876
[Au] Autor:Zhang B; Lu BY; Yu B; Zheng FX; Zhou Q; Chen YP; Zhang XQ
[Ad] Endereço:Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.
[Ti] Título:Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
[So] Source:J Int Med Res;45(2):621-630, 2017 Apr.
[Is] ISSN:1473-2300
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping. Results The study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17). Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).
[Mh] Termos MeSH primário: Aneuploidia
DNA/genética
Síndrome de Klinefelter/diagnóstico
Síndrome de Noonan/diagnóstico
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico
Transtornos dos Cromossomos Sexuais/diagnóstico
Trissomia/diagnóstico
Cariótipo XYY/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos X/genética
DNA/sangue
Feminino
Feto
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Cariotipagem
Síndrome de Klinefelter/sangue
Síndrome de Klinefelter/genética
Síndrome de Klinefelter/patologia
Síndrome de Noonan/sangue
Síndrome de Noonan/genética
Síndrome de Noonan/patologia
Valor Preditivo dos Testes
Gravidez
Segundo Trimestre da Gravidez
Diagnóstico Pré-Natal/estatística & dados numéricos
Aberrações dos Cromossomos Sexuais
Transtornos dos Cromossomos Sexuais/sangue
Transtornos dos Cromossomos Sexuais/genética
Transtornos dos Cromossomos Sexuais/patologia
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/sangue
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia
Cromossomos Sexuais/química
Cromossomos Sexuais/patologia
Trissomia/genética
Trissomia/patologia
Cariótipo XYY/sangue
Cariótipo XYY/genética
Cariótipo XYY/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170331
[St] Status:MEDLINE
[do] DOI:10.1177/0300060517695008


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[PMID]:28347726
[Au] Autor:Ramond F; Duband S; Croisille P; Cavé H; Teyssier G; Adouard V; Touraine R
[Ad] Endereço:Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France.
[Ti] Título:Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.
[So] Source:Eur J Med Genet;60(6):299-302, 2017 Jun.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients.
[Mh] Termos MeSH primário: Anomalias dos Vasos Coronários/genética
Morte Súbita Cardíaca
Síndrome de Noonan/genética
Proteínas ras/genética
[Mh] Termos MeSH secundário: Criança
Anomalias dos Vasos Coronários/patologia
Seres Humanos
Masculino
Mutação
Síndrome de Noonan/patologia
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.1.- (RIT1 protein, human); EC 3.6.5.2 (ras Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE


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[PMID]:28346493
[Au] Autor:Altmüller F; Pothula S; Annamneedi A; Nakhaei-Rad S; Montenegro-Venegas C; Pina-Fernández E; Marini C; Santos M; Schanze D; Montag D; Ahmadian MR; Stork O; Zenker M; Fejtova A
[Ad] Endereço:RG Presynaptic Plasticity, Leibniz Institute for Neurobiology, Magdeburg, Germany.
[Ti] Título:Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.
[So] Source:PLoS Genet;13(3):e1006684, 2017 Mar.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain. Unlike mice with a global expression of this mutation, this strain is viable and without severe systemic phenotype, but shows lower exploratory activity and reduced memory specificity, which is in line with a causal role of disturbed neuronal Ptpn11 signaling in the development of NS-linked cognitive deficits. To explore the underlying mechanisms we investigated the neuronal activity-regulated Ras signaling in brains and neuronal cultures derived from this model. We observed an altered surface expression and trafficking of synaptic glutamate receptors, which are crucial for hippocampal neuronal plasticity. Furthermore, we show that the neuronal activity-induced ERK signaling, as well as the consecutive regulation of gene expression are strongly perturbed. Microarray-based hippocampal gene expression profiling revealed profound differences in the basal state and upon stimulation of neuronal activity. The neuronal activity-dependent gene regulation was strongly attenuated in Ptpn11D61Y neurons. In silico analysis of functional networks revealed changes in the cellular signaling beyond the dysregulation of Ras/MAPK signaling that is nearly exclusively discussed in the context of NS at present. Importantly, changes in PI3K/AKT/mTOR and JAK/STAT signaling were experimentally confirmed. In summary, this study uncovers aberrant neuronal activity-induced signaling and regulation of gene expression in Ptpn11D61Y mice and suggests that these deficits contribute to the pathophysiology of cognitive impairments in NS.
[Mh] Termos MeSH primário: Modelos Animais de Doenças
Expressão Gênica
Mutação
Neurônios/metabolismo
Síndrome de Noonan/genética
Proteína Tirosina Fosfatase não Receptora Tipo 11/genética
Transdução de Sinais/genética
[Mh] Termos MeSH secundário: Animais
Western Blotting
Células Cultivadas
Perfilação da Expressão Gênica/métodos
Seres Humanos
Aprendizagem em Labirinto/fisiologia
Camundongos Endogâmicos C57BL
Camundongos Knockout
Síndrome de Noonan/metabolismo
Síndrome de Noonan/fisiopatologia
Prosencéfalo/metabolismo
Prosencéfalo/patologia
Proteína Tirosina Fosfatase não Receptora Tipo 11/metabolismo
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Proteínas ras/genética
Proteínas ras/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 11); EC 3.1.3.48 (Ptpn11 protein, mouse); EC 3.6.5.2 (ras Proteins)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170714
[Lr] Data última revisão:
170714
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170328
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006684


  9 / 1404 MEDLINE  
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[PMID]:28328117
[Au] Autor:Siegfried A; Cances C; Denuelle M; Loukh N; Tauber M; Cavé H; Delisle MB
[Ad] Endereço:Department of Pathology, Institut Universitaire du Cancer, Oncopole, Toulouse, France.
[Ti] Título:Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.
[So] Source:Am J Med Genet A;173(4):1061-1065, 2017 Apr.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus. He developed epilepsy 2 years later. The temporal tumor was surgically resected because of increasing crises and worsening radiological signs. Microscopy showed nodules with specific glioneuronal elements or glial nodules, leading to the diagnosis of dysembryoplastic neuroepithelial tumor (DNT). Immunohistochemistry revealed positive nuclear staining with Olig2 and pERK in small cells. SHP2 plays a key role in RAS/MAPK pathway signaling which controls several developmental cell processes and oncogenesis. An amino-acid substitution in the N-terminal SHP2 domain disrupts the self-locking conformation and leads to ERK activation. Glioneuronal tumors including DNTs and pilocytic astrocytomas have been described in NS. This report provides further support for the relation of DNTs with RASopathies and for the implication of RAS/MAPK pathways in sporadic low-grade glial tumors including DNTs. © 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Neoplasias Encefálicas/genética
Epilepsia/genética
Mutação
Neoplasias Neuroepiteliomatosas/genética
Síndrome de Noonan/genética
Proteína Tirosina Fosfatase não Receptora Tipo 11/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética
Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo
Neoplasias Encefálicas/diagnóstico
Neoplasias Encefálicas/patologia
Neoplasias Encefálicas/cirurgia
Criança
Epilepsia/diagnóstico
Epilepsia/patologia
Epilepsia/cirurgia
MAP Quinases Reguladas por Sinal Extracelular/genética
MAP Quinases Reguladas por Sinal Extracelular/metabolismo
Expressão Gênica
Genes Dominantes
Seres Humanos
Masculino
Neoplasias Neuroepiteliomatosas/diagnóstico
Neoplasias Neuroepiteliomatosas/patologia
Neoplasias Neuroepiteliomatosas/cirurgia
Proteínas do Tecido Nervoso/genética
Proteínas do Tecido Nervoso/metabolismo
Síndrome de Noonan/diagnóstico
Síndrome de Noonan/patologia
Síndrome de Noonan/cirurgia
Fator de Transcrição 2 de Oligodendrócitos
Proteína Tirosina Fosfatase não Receptora Tipo 11/metabolismo
Lobo Temporal/metabolismo
Lobo Temporal/patologia
Lobo Temporal/cirurgia
Tálamo/metabolismo
Tálamo/patologia
Tálamo/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Basic Helix-Loop-Helix Transcription Factors); 0 (Nerve Tissue Proteins); 0 (OLIG2 protein, human); 0 (Oligodendrocyte Transcription Factor 2); EC 2.7.11.24 (Extracellular Signal-Regulated MAP Kinases); EC 3.1.3.48 (PTPN11 protein, human); EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 11)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38108


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[PMID]:28211982
[Au] Autor:Bertola D; Yamamoto G; Buscarilli M; Jorge A; Passos-Bueno MR; Kim C
[Ad] Endereço:Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
[Ti] Título:The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
[So] Source:Am J Med Genet A;173(3):824-828, 2017 Mar.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern-sparse, thin, and with slow growing-, similar to the typical ectodermal finding observed in Noonan syndrome-like disorder with loose anagen hair. Additionally, he presented craniosynostosis, a rare clinical finding in RASopathies. This report gives further support that this novel RASopathy-PPP1CB-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality. © 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Substituição de Aminoácidos
Códon
Mutação
Síndrome de Noonan/diagnóstico
Síndrome de Noonan/genética
Fenótipo
Proteína Fosfatase 1/genética
[Mh] Termos MeSH secundário: Brasil
Criança
Estudos de Associação Genética
Seres Humanos
Masculino
Mutação de Sentido Incorreto
[Pt] Tipo de publicação:LETTER; REVIEW
[Nm] Nome de substância:
0 (Codon); EC 3.1.3.16 (PPP1CB protein, human); EC 3.1.3.16 (Protein Phosphatase 1)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170218
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38070



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