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syndrome noonan

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https://www.readbyqxmd.com/read/27925158/mutations-in-dync2h1-the-cytoplasmic-dynein-2-heavy-chain-1-motor-protein-gene-cause-short-rib-polydactyly-type-i-saldino-noonan-type
#1
Nora Badiner, Stephanie Paige Taylor, Kimberly Forlenza, Ralph S Lachman, Michael Bamshad, Deborah Nickerson, Daniel H Cohn, Deborah Krakow
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP include short horizontal ribs, short limbs and polydactyly. The SRP type I phenotype is characterized by a very small thorax, extreme micromelia, very short, poorly mineralized long bones, and multiple organ system anomalies...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#2
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27893452/confounding-of-the-association-between-radiation-exposure-from-ct-scans-and-risk-of-leukemia-and-brain-tumors-by-cancer-susceptibility-syndromes
#3
Johanna M Meulepas, Cécile M Ronckers, Johannes Merks, Michel E Weijerman, Jay H Lubin, Michael Hauptmann
Recent studies linking radiation exposure from pediatric computed tomography (CT) to increased risks of leukemia and brain tumors lacked data to control for cancer susceptibility syndromes (CSS). These syndromes might be confounders because they are associated with an increased cancer risk and may increase the likelihood of pediatric CT scans. We identify CSS predisposing to leukemia and brain tumors through a systematic literature search and summarize prevalence and risk. Since empirical evidence is lacking in published literature on patterns of CT use for most types of CSS, we estimate confounding bias of relative risks (RR) for categories of radiation exposure based on expert opinion about patterns of CT scans among CSS patients...
November 28, 2016: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/27878339/multifocal-tenosynovial-giant-cell-tumors-in-a-child-with-noonan-syndrome
#4
Arthur B Meyers, Agboola O Awomolo, Sara Szabo
Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis...
November 23, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27868344/further-evidence-that-variants-in-ppp1cb-cause-a-rasopathy-similar-to-noonan-syndrome-with-loose-anagen-hair
#5
Regina M Zambrano, Michael Marble, Stuart A Chalew, Christian Lilje, Alfonso Vargas, Yves Lacassie
No abstract text is available yet for this article.
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862862/variability-in-clinical-and-neuropsychological-features-of-individuals-with-map2k1-mutations
#6
Elizabeth I Pierpont, Margaret Semrud-Clikeman, Mary Ella Pierpont
Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. Here we describe two male patients (ages 16 and 20 years) with mutations in MAP2K1 and heterogeneous clinical presentations. Both young men had short stature, some facial features suggesting a RASopathy and minimal cardiac involvement. Detailed medical and neuropsychological findings are presented alongside a comprehensive review of features of patients with MAP2K1 mutations reported in the literature...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27816335/developmental-changes-in-aortic-mechanical-properties-in-normal-fetuses-and-fetuses-with-cardiovascular-disease
#7
Mio Taketazu, Masaya Sugimoto, Hirofumi Saiki, Hirotaka Ishido, Satoshi Masutani, Hideaki Senzaki
BACKGROUND: We hypothesized that fetal aortic mechanical properties assessed by aortic diameter (AoD) and flow show maturational changes during the gestational period, and that these properties are different in fetuses with congenital heart diseases and fetuses with normal development. METHODS: Phasic changes in ascending AoD along with Doppler flow profile were measured in 84 consecutive normal fetuses (gestational age, 18-36 weeks) and in 30 consecutive fetuses with cardiovascular diseases (gestational age, 22-39 weeks)...
September 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27799978/multifocal-central-giant-cell-granuloma-a-case-report
#8
Tamgadge Sandhya, Tamgadge Avinash, Dhauskar Snehal, Tiwari Neha, Mudaliar Uma
Central giant cell granuloma is a benign, aggressive neoplasm composed of multinucleated giant cells that almost exclusively occurs in the jaws though extra- gnathic incidence is rare. Multifocal CGCGs of the jaws are very rare and suggestive of systemic diseases such as hyperparathyroidism, an inherited syndrome such as Noonan- like multiple giant cell lesion syndrome or other disorders.Very few cases of multifocal CGCGs in the jaws without any concomitant systemic disease have been reported. This paper describes an unusual case reported to the Oral Surgery Department of Dr...
2016: Iranian Journal of Pathology
https://www.readbyqxmd.com/read/27796759/increased-src-family-kinase-activity-disrupts-excitatory-synaptic-transmission-and-impairs-remote-fear-memory-in-forebrain-shp2-deficient-mice
#9
Xunyi Yan, Bin Zhang, Wen Lu, Lin Peng, Qian Yang, Wei Cao, Shen Lin, Wenyue Yu, Xiaoming Li, Yuehai Ke, Shengtian Li, Wei Yang, Jianhong Luo
Src homolog domain-containing phosphatase 2 (Shp2) signals a variety of cellular and physiological functions including learning and memory. Dysregulation of ERK signaling is known to be responsible for the cognitive deficits associated with gain-of-function mutated Shp2 mimicking Noonan syndrome. However, here, we report that CaMKIIα-cre induced knockout (CaSKO) of Shp2 in hippocampal pyramidal neurons resulted in increased Src activity, upregulated phosphorylation of N-methyl-D-aspartate receptors (NMDARs) at Y1325 of GluN2A and at Y1472 of GluN2B, disrupted the balance of synaptic transmission, and impaired long-term potentiation and remote contextual fear memory...
October 29, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27783593/leukaemogenic-effects-of-ptpn11-activating-mutations-in-the-stem-cell-microenvironment
#10
Lei Dong, Wen-Mei Yu, Hong Zheng, Mignon L Loh, Silvia T Bunting, Melinda Pauly, Gang Huang, Muxiang Zhou, Hal E Broxmeyer, David T Scadden, Cheng-Kui Qu
Germline activating mutations of the protein tyrosine phosphatase SHP2 (encoded by PTPN11), a positive regulator of the RAS signalling pathway, are found in 50% of patients with Noonan syndrome. These patients have an increased risk of developing leukaemia, especially juvenile myelomonocytic leukaemia (JMML), a childhood myeloproliferative neoplasm (MPN). Previous studies have demonstrated that mutations in Ptpn11 induce a JMML-like MPN through cell-autonomous mechanisms that are dependent on Shp2 catalytic activity...
October 26, 2016: Nature
https://www.readbyqxmd.com/read/27753652/raf1-associated-noonan-syndrome-presenting-antenatally-with-an-abnormality-of-skull-shape-subdural-haematoma-and-associated-with-novel-cerebral-malformations
#11
Verity L Hartill, Mitchell W Dillon, Daniel J Warren, Moira Blyth
No abstract text is available yet for this article.
October 6, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27741366/the-diverse-outcome-of-early-prenatal-diagnosis-of-pulmonary-stenosis
#12
Moshe Bronshtein, Zeev Blumenfeld, Asaad Choury, Ayala Gover
OBJECTIVES: To assess the natural history and outcome of fetal pulmonary stenosis [PS] detected at 14 to 16 weeks gestation. METHODS: This is a retrospective study, in the years 2004-2015, with serial follow up during pregnancy. Patients referred for complete early fetal ultrasound including all fetal systems and a fetal echocardiogram. Ninety seven percent of the women were low risk, and 3% had risk factors such as maternal type 1 diabetes mellitus, exposure to teratogenic drugs or anomalies in previous pregnancies or in other family members...
October 14, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27736153/sh2-domain-containing-phosphatase-shp-2-is-a-novel-anti-fibrotic-regulator-in-pulmonary-fibrosis
#13
Argyrios Tzouvelekis, Guoying Yu, Christian Lacks Lino Cardenas, Jose D Herazo-Maya, Rong Wang, Tony Woolard, Yi Zhang, Koji Sakamoto, Hojin Lee, Jae-Sung Yi, Giuseppe DeIuliis, Nikolaos Xylourgidis, Farida Ahangari, Patty J Lee, Vassilis Aidinis, Erica L Herzog, Robert Homer, Anton M Bennett, Naftali Kaminski
RATIONALE: Idiopathic Pulmonary Fibrosis (IPF) is a chronic fatal lung disease with dismal prognosis and no cure. The potential role of the ubiquitously expressed SH2 domain-containing-tyrosine phosphatase (SHP2) as a therapeutic target has not been studied in IPF Objectives: To determine the expression, mechanistic role and potential therapeutic utility of SHP2 in Pulmonary Fibrosis Methods: The effects of SHP2 overexpression and inhibition on fibroblast response to pro-fibrotic stimuli were analyzed in-vitro in primary human and mouse lung fibroblasts...
October 13, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27699752/-rit1-a-novel-gene-associated-with-noonan-syndrome
#14
I Arroyo-Carrera, M Solo de Zaldivar-Tristancho, R Martin-Fernandez, M Vera-Torres, J F Gonzalez de Buitrago-Amigo, J Botet-Rodriguez
INTRODUCTION: Noonan syndrome is the most frequent of the congenital group of malformation syndromes caused by germline mutations that encode components of the RAS/MAPK pathway, termed RASopathies, one of the most frequent congenital genetic disorders in the clinical practice. Recently RIT1 mutations have been reported in patients with Noonan syndrome. CASE REPORT: A 7 years-old girl with a clinical diagnosis of Noonan syndrome, and with a hypertrophic cardiomyopathy included in her clinical manifestations, where a de novo heterozygous, probably pathogenic, novel mutation in RIT1, c...
October 16, 2016: Revista de Neurologia
https://www.readbyqxmd.com/read/27695168/epidural-analgesia-complicated-by-dural-ectasia-in-the-marfan-syndrome
#15
Benjamin B Vacula, Chelsea Gray, Michael P Hofkamp, Patrick T Noonan, Russell K McAllister, Kimberly A Pilkinton, Zhiying Diao
Patients with the Marfan syndrome are considered to be high risk during pregnancy and warrant a complete multidisciplinary evaluation. One goal is to minimize hemodynamic fluctuations during labor since hypertensive episodes may result in aortic dissection or rupture. Although they may prevent these complications, neuraxial techniques may be complicated by dural ectasia. The case of a parturient with the Marfan syndrome and mild dural ectasia is presented. During attempted labor epidural placement, unintentional dural puncture occurred...
October 2016: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/27684039/congenital-heart-defects-in-noonan-syndrome-and-rit1-mutation
#16
Giulio Calcagni, Anwar Baban, Francesca Romana Lepri, Bruno Marino, Marco Tartaglia, Maria Cristina Digilio
No abstract text is available yet for this article.
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27666661/molecular-screening-strategies-for-nf1-like-syndromes-with-caf%C3%A3-au-lait-macules-review
#17
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
November 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27646978/ep12-01-noonan-syndrome-new-features
#18
H Bouchghoul, C Colmant, M Senat, J Roume, P Labrune, J Bault
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27631835/cdh23-related-hearing-loss-a-new-genetic-risk-factor-for-semicircular-canal-dehiscence
#19
Kathryn Y Noonan, Jack Russo, Jun Shen, Heidi Rehm, Sara Halbach, Einar Hopp, Sarah Noon, Jacqueline Hoover, Clifford Eskey, James E Saunders
OBJECTIVE: To investigate the prevalence and relative risk of semicircular canal dehiscence (SCD) in pediatric patients with CDH23 pathogenic variants (Usher syndrome or non-syndromic deafness) compared with age-matched controls. STUDY DESIGN: Retrospective cohort study. SETTING: Multi-institutional study. PATIENTS: Pediatric patients (ages 0-5 years) were compared based on the presence of biallelic pathogenic variants in CDH23 with pediatric controls who underwent computed tomography (CT) temporal bone scan for alternative purposes...
September 14, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27626068/integrated-tumor-and-germline-whole-exome-sequencing-identifies-mutations-in-mapk-and-pi3k-pathway-genes-in-an-adolescent-with-rosette-forming-glioneuronal-tumor-of-the-fourth-ventricle
#20
Frank Y Lin, Katie Bergstrom, Richard Person, Abhishek Bavle, Leomar Y Ballester, Sarah Scollon, Robin Raesz-Martinez, Andrew Jea, Sherri Birchansky, David A Wheeler, Stacey L Berg, Murali M Chintagumpala, Adekunle M Adesina, Christine Eng, Angshumoy Roy, Sharon E Plon, D Williams Parsons
The integration of genome-scale studies such as whole-exome sequencing (WES) into the clinical care of children with cancer has the potential to provide insight into the genetic basis of an individual's cancer with implications for clinical management. This report describes the results of clinical tumor and germline WES for a patient with a rare tumor diagnosis, rosette-forming glioneuronal tumor of the fourth ventricle (RGNT). Three pathogenic gene alterations with implications for clinical care were identified: somatic activating hotspot mutations in FGFR1 (p...
September 2016: Cold Spring Harbor Molecular Case Studies
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