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Showing 1–50 of 399 results

Advanced filters: Author: D M Noonan Clear advanced filters

Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

Mutations in RAS-MAPK pathway genes are implicated in Noonan-spectrum, yet up to 20% of cases have unknown cause. Here, the authors identify RREB1 underlying a 6p microdeletion RASopathy-like syndrome and show that RREB1, SIN3A and KDM1A form a transcriptional repressive complex to control methylation of MAPK pathway genes.

Oliver A. Kent
Manipa Saha
Robert Rottapel
ResearchOpen Access16 Sept 2020
Nature Communications

Volume: 11, P: 1-12
Germline gain-of-function mutations in SOS1 cause Noonan syndrome

This is an issue edsumm for ng1926. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence. It shows that sea surface temperatures near the North Pole increased from roughly 18 degrees Celsius to over 23 degrees Celsius — such warm values imply the absence of ice and thus exclude the influence of ice-albedo feedbacks on this Arctic warming.

Amy E Roberts
Toshiyuki Araki
Raju S Kucherlapati
Research03 Dec 2006
Nature Genetics

Volume: 39, P: 70-74
Germline gain-of-function mutations in RAF1 cause Noonan syndrome

M Abdur Razzaque
Tsutomu Nishizawa
Rumiko Matsuoka
Research01 Jul 2007
Nature Genetics

Volume: 39, P: 1013-1017
Mouse model of Noonan syndrome reveals cell type– and gene dosage–dependent effects of Ptpn11 mutation

Toshiyuki Araki
M Golam Mohi
Benjamin G Neel
Research25 Jul 2004
Nature Medicine

Volume: 10, P: 849-857
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia
Ernest L. Mehler
Bruce D. Gelb
Research12 Nov 2001
Nature Genetics

Volume: 29, P: 465-468
A restricted spectrum of NRAS mutations causes Noonan syndrome

Martin Zenker, Marco Tartaglia, Reza Ahmadian and colleagues report the identification of a restricted spectrum of NRAS mutations in individuals with Noonan syndrome. Functional testing revealed that the mutations confer enhanced stimulus-dependent MAPK activation.

Ion C Cirstea
Kerstin Kutsche
Martin Zenker
Research06 Dec 2009
Nature Genetics

Volume: 42, P: 27-29
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome

Noonan syndrome (NS) is an autosomal dominant genetic disease that is co-morbid with cognitive deficits in a subset of patients. Using mouse models of NS, a study now shows that the synaptic plasticity and memory deficits in mouse models of NS are due primarily to the dysfunction in the MEK-Erk kinase pathways, and pharmacological intervention that alters MEK-Ras function can alleviate physiological and behavioral deficits in the mouse models of NS.

Yong-Seok Lee
Dan Ehninger
Alcino J Silva
Research10 Nov 2014
Nature Neuroscience

Volume: 17, P: 1736-1743
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

This is an issue edsumm for ng1939. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence. It shows that sea surface temperatures near the North Pole increased from roughly 18 degrees Celsius to over 23 degrees Celsius — such warm values imply the absence of ice and thus exclude the influence of ice-albedo feedbacks on this Arctic warming.

Marco Tartaglia
Len A Pennacchio
Bruce D Gelb
Research03 Dec 2006
Nature Genetics

Volume: 39, P: 75-79
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Marco Tartaglia and colleagues report the identification of mutations of SHOC2 in individuals with Noonan-like syndrome with loose anagen hair. The mutations cause aberrantly acquired N-myristoylation of SHOC2 resulting in aberrant targeting of SHOC2 to the plasma membrane. SHOC2 is believed to function as a scaffold linking RAS to downstream signal transducers.

Viviana Cordeddu
Elia Di Schiavi
Marco Tartaglia
Research16 Aug 2009
Nature Genetics

Volume: 41, P: 1022-1026
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Thomas E Neumann
Judith Allanson
Vera Kalscheuer
Research15 Oct 2008
European Journal of Human Genetics

Volume: 17, P: 420-425
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

Claire Beneteau
Hélène Cavé
Bruno Leheup
Research08 Apr 2009
European Journal of Human Genetics

Volume: 17, P: 1216-1221
THE EFFECT OF GH (SAIZEN) THERAPY (28 IU/M/WEEK) ON LINEAR GROWTH AND CARDIAC MORPHOLOGY IN SHORT CHILDREN WITH NOONAN SYNDROME

A M Cotterill
W J McKenna
M O Savage
Research01 May 1993
Pediatric Research

Volume: 33, P: S43
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit
Anna Sarkozy
Bruce D Gelb
Research01 Jul 2007
Nature Genetics

Volume: 39, P: 1007-1012
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Maria Lisa Dentici
Marcello Niceta
Marco Tartaglia
Research01 Jun 2024
European Journal of Human Genetics

Volume: 32, P: 954-963
DELINEATION OF VARIABILITY WITHIN FAMILIAL NOONAN'S SYNDROME

David R Witt
J G Hall
D R Wilson
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 308
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J Johnston
Jasper J van der Smagt
Leslie G Biesecker
Research22 Feb 2018
Genetics in Medicine

Volume: 20, P: 1175-1185
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Christina Lissewski
Valérie Chune
Martin Zenker
Research12 Aug 2020
European Journal of Human Genetics

Volume: 29, P: 51-60
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

Hélène Cavé
Aurélie Caye
Alain Verloes
Research13 Jan 2016
European Journal of Human Genetics

Volume: 24, P: 1124-1131
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

C P Kratz
L Franke
M Zenker
ResearchOpen Access05 Mar 2015
British Journal of Cancer

Volume: 112, P: 1392-1397
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Yoko Narumi
Yoko Aoki
Yoichi Matsubara
Research01 Sept 2008
Journal of Human Genetics

Volume: 53, P: 834-841
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

Heather Mason-Suares
Diana Toledo
Matthew S Lebo
Research18 Jan 2017
European Journal of Human Genetics

Volume: 25, P: 509-511
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Tetsuya Niihori
Yoko Aoki
Yoichi Matsubara
Research01 Apr 2005
Journal of Human Genetics

Volume: 50, P: 192-202
Genotype–phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines

Hunter Kauffman
Rebecca C. Ahrens-Nicklas
Anirban Banerjee
Research14 Dec 2020
Pediatric Research

Volume: 90, P: 444-451
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz
Christina Lissewski
Martin Zenker
Research21 Apr 2016
Genetics in Medicine

Volume: 18, P: 1226-1234
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome

A Karow
D Steinemann
C P Kratz
Correspondence15 Mar 2007
Leukemia

Volume: 21, P: 1303-1305
Hotspots of human mutation point to clonal expansions in spermatogonia

A systematic statistical genetics approach discovers CES drivers as hotspots of human de novo mutation and shows that clonal expansions in germline may both modulate the prevalence of disorders and lead to false-positive disease associations.

Vladimir Seplyarskiy
Mikhail A. Moldovan
Shamil Sunyaev
Research08 Oct 2025
Nature

P: 1-7
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Marco Tartaglia
Charlotte M Niemeyer
Bruce D Gelb
Research28 Apr 2003
Nature Genetics

Volume: 34, P: 148-150
RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia

Juvenile myelomonocytic leukemia (JMML) is an aggressive disease with limited options for treatment. Here, the authors analyse the DNA methylome and mutational profile of JMML to define three subgroups with unique molecular and clinical characteristics.

Daniel B. Lipka
Tania Witte
Christoph Plass
ResearchOpen Access19 Dec 2017
Nature Communications

Volume: 8, P: 1-14
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

M I Kavamura
M G Pomponi
G Neri
Research09 Jan 2003
European Journal of Human Genetics

Volume: 11, P: 64-68
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

RIT1 mutations are mutually exclusive with other lung cancer drivers and lack targeted therapies. Here the authors examine genetic dependencies of mutant RIT1 with genome-wide CRISPR screens, revealing synergy between RIT1 and YAP1, and increased sensitivity to Aurora kinase inhibitors.

Athea Vichas
Amanda K. Riley
Alice H. Berger
ResearchOpen Access09 Aug 2021
Nature Communications

Volume: 12, P: 1-19
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation

Shay Ben-Shachar
Shlomi Constantini
Susan M Huson
Research10 Oct 2012
European Journal of Human Genetics

Volume: 21, P: 535-539
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori
Yoko Aoki
Yoichi Matsubara
Research12 Feb 2006
Nature Genetics

Volume: 38, P: 294-296
A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas

A subset of pediatric gliomas harbour alterations in fibroblast growth factor receptor (FGFR)-family proteins. Here, the authors characterise the genomic landscape of 11,635 gliomas across ages and use isogenic model systems to explore the underlying biology of FGFR1-altered gliomas and potential therapeutic vulnerabilities.

April A. Apfelbaum
Eric Morin
Pratiti Bandopadhayay
ResearchOpen Access31 Jul 2025
Nature Communications

Volume: 16, P: 1-23
Elliptic anisotropy measurement of the f₀(980) hadron in proton-lead collisions and evidence for its quark-antiquark composition

The quark structure of the f₀(980) hadron is still unknown after 50 years of its discovery. Here, the CMS Collaboration reports a measurement of the elliptic flow of the f₀(980) state in proton-lead collisions at a nucleon-nucleon centre-of-mass energy of 8.16 TeV, providing strong evidence that the state is an ordinary meson.

A. Hayrapetyan
A. Tumasyan
A. Zhokin
ResearchOpen Access27 Aug 2025
Nature Communications

Volume: 16, P: 1-19
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery

The authors use artificial intelligence approaches to explore the predictive value of whole exome sequencing in forecasting clinical outcomes following surgery for congenital heart defects. Findings include that damaging genotypes in chromatin-modifying and cilia-related genes are associated with an increased risk of adverse post-operative outcomes such as mortality, cardiac arrest, and prolonged mechanical ventilation.

W. Scott Watkins
Edgar J. Hernandez
Martin Tristani-Firouzi
ResearchOpen Access10 Jul 2025
Nature Communications

Volume: 16, P: 1-11
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

Gordon K. C. Leung
H. M. Luk
Brian H. Y. Chung
ResearchOpen Access05 Feb 2018
Scientific Reports

Volume: 8, P: 1-9
Epicardioid single-cell genomics uncovers principles of human epicardium biology in heart development and disease

The lineage of human epicardium is studied using time course single-cell analysis of epicardioids.

Anna B. Meier
Dorota Zawada
Alessandra Moretti
ResearchOpen Access03 Apr 2023
Nature Biotechnology

Volume: 41, P: 1787-1800
Identifying facial phenotypes of genetic disorders using deep learning

A deep-learning algorithm, trained on over 17,000 real-world patient facial images, achieves high accuracy in identifying rare genetic disorders.

Yaron Gurovich
Yair Hanani
Karen W. Gripp
Research07 Jan 2019
Nature Medicine

Volume: 25, P: 60-64
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

G. Bademci
F. B. Cengiz
M. Tekin
ResearchOpen Access26 Aug 2016
Scientific Reports

Volume: 6, P: 1-7
Cell surface distribution of lectin receptors determined by resonance energy transfer

S. M. Fernandez
R. D. Berlin
Research02 Dec 1976
Nature

Volume: 264, P: 411-415
Protein-tyrosine phosphatases and cancer

Tyrosine phopshorylation is controlled by protein-tyrosine phosphatases (PTPs), and recent evidence has shown that some PTPs can function as tumour suppressors whereas others can be oncogenic. Understanding how these enzymes function might aid the development of new anticancer agents.

Arne Östman
Carina Hellberg
Frank D. Böhmer
Reviews01 Apr 2006
Nature Reviews Cancer

Volume: 6, P: 307-320
Restoration of Normal Growth by Covering of Agglutinin Sites on Tumour Cell Surface

MAX M. BURGER
KENNETH D. NOONAN
Research07 Nov 1970
Nature

Volume: 228, P: 512-515
Structural insights into isoform-specific RAS-PI3Kα interactions and the role of RAS in PI3Kα activation

Mutations in RAS and PI3Kα drive cancer by activating the PI3K-AKT-mTOR pathway. The authors present RAS-PI3Kα structures, revealing interaction interfaces, isoform-specific differences, and a framework for designing PI3Kα-specific inhibitors.

Daniel Czyzyk
Wupeng Yan
Dhirendra K. Simanshu
ResearchOpen Access09 Jan 2025
Nature Communications

Volume: 16, P: 1-19
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Meta-analyses in up to 1.3 million individuals identify 87 rare-variant associations with blood pressure traits. On average, rare variants exhibit effects ~8 times larger than the mean effects of common variants and implicate candidate causal genes at associated regions.

Praveen Surendran
Elena V. Feofanova
Joanna M. M. Howson
Research23 Nov 2020
Nature Genetics

Volume: 52, P: 1314-1332
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen
ResearchOpen Access07 Sept 2018
Genetics in Medicine

Volume: 21, P: 867-876
SHP2 as a primordial epigenetic enzyme expunges histone H3 pTyr-54 to amend androgen receptor homeostasis

SHP2 interacts with ACK1 kinase to erase pY54-H3 (Tyr54-phosphorylation of histones H3) epigenetic marks and triggers Androgen receptor transcriptional program. It explains genital abnormalities and infertility in LEOPARD syndrome patients, and AR upregulation in prostate cancer.

Surbhi Chouhan
Dhivya Sridaran
Nupam P. Mahajan
ResearchOpen Access04 Jul 2024
Nature Communications

Volume: 15, P: 1-19
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Vein of Galen malformations (VOGMs) are severe congenital brain arteriovenous malformations. Here the authors work to elucidate the pathogenesis of VOGMs by performing an integrated analysis of 310 VOGM proband family exomes and 336,326 human cerebrovasculature single-cell transcriptomes to identify mutations of key signaling regulators.

Shujuan Zhao
Kedous Y. Mekbib
Kristopher T. Kahle
ResearchOpen Access17 Nov 2023
Nature Communications

Volume: 14, P: 1-23
Isolation of a distinct class of gain-of-function SHP-2 mutants with oncogenic RAS-like transforming activity from solid tumors

D Miyamoto
M Miyamoto
M Hatakeyama
Research28 Jan 2008
Oncogene

Volume: 27, P: 3508-3515
Transformation by concanavalin A of the response of molluscan neurones to L-glutamate

JacSue Kehoe
Research31 Aug 1978
Nature

Volume: 274, P: 866-869
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Angela E Lin
Craig T Basson
Barbara R Pober
Reviews01 Jul 2008
Genetics in Medicine

Volume: 10, P: 469-494

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