Results 1 to 10 of about 14,922 (141)

Optic nerve changes in PTPN11-related Noonan syndrome [PDF]

Oman Journal of Ophthalmology
Characteristic features of Noonan syndrome include dysmorphic facies, short stature, and congenital cardiac defects. Pathogenic variants in PTPN11 are one of the common causes and may result in optic nerve head anomalies.
Tarek Saad Shoala, Linda M. Reis, Jenina Capasso, Elena Semina, Alex V. Levin   +4 more
doaj   +2 more sources

Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study [PDF]

Molecular Autism
Background Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway.
Chloe Alexa McGhee, Julia R. Plank, Luca Pannone, Odeya Russo, Naomi Fuhrmann, Aurora Ruggeri, Francesca Clementina Radio, Simone Martinelli, Marco Tartaglia, Tamar Green   +9 more
doaj   +2 more sources

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum [PDF]

Diagnostics
Background: Noonan syndrome (NS) is a genetically heterogeneous condition within the RASopathies spectrum, with distinctive craniofacial features, congenital heart defects, short stature, and variably present developmental delay.
Florina Victoria Nazarie, Diana Miclea, Crina Șufană, Alina Botezatu, Radu Anghel Popp, Ionela Maria Pascanu, Camelia Alkhzouz, Simona Bucerzan, Călin Lazăr, Cecilia Lazea, Romana Vulturar   +10 more
doaj   +2 more sources

Clinical characteristics and prognostic analysis of acute myeloid leukemia patients with PTPN11 mutations

Hematology, 2022
Objectives Little is known about the clinical impact of germline/somatic mutations of PTPN11 in acute leukemia. The aim of this study was to investigate the clinical characteristics and prognostic impact of PTPN11 mutations in patients with acute myeloid
Yueyue Sun, Fenghong Zhang, Li Huo, Wenzhi Cai, Qinrong Wang, Lijun Wen, Lingzhi Yan, Hongjie Shen, Xiaoyu Xu, Suning Chen   +9 more
doaj   +1 more source

THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME

İstanbul Tıp Fakültesi Dergisi, 2021
Objective: Dominant pathogenic variants in 29 RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) pathway genes, important for the regulation of cell growth, differentiation, aging and cell-cycle, are responsible for RASopathies, Noonan syndrome (NS)
Güven Toksoy, Fatih Tepgeç, Tuğba Saraç Sivrikoz, İbrahim Halil Kalelioğlu, Selma Demir, Recep Has, Atıl Yüksel, Zehra Oya Uyguner, Seher Başaran   +8 more
doaj   +1 more source

Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations

Open Medicine, 2023
We discuss the clinical characteristics and prognostic significance of adult individuals with PTPN11 mutations who have developed acute myeloid leukemia (AML) (none acute promyelocytic leukemia). Next generation sequencing and Sanger sequencing were used
Sheng Li, Liu Yajiao, Zhu Yingying, Zhou Jingfen, Hua Haiying   +4 more
doaj   +1 more source

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

Endocrine Connections, 2022
Introduction: Mutations in PTPN11 are associated with Noonan syndrome (NS). Although the effectiveness of growth hormone therapy (GHT) in treating sh ort stature due to NS has been previously demonstrated, the effect of PTPN11 mutation status on the long-
Alexander A L Jorge, Thomas Edouard, Mohamad Maghnie, Alberto Pietropoli, Nicky Kelepouris, Alicia Romano, Martin Zenker, Reiko Horikawa   +7 more
doaj   +1 more source

Malignant progression of liver cancer progenitors requires lysine acetyltransferase 7–acetylated and cytoplasm‐translocated G protein GαS

Hepatology, EarlyView., 2022
KAT7‐acetylated and cytoplasm‐translocated G‐protein GαS enhances IL‐6 effect and drives HCC progenitor cell progression. Abstract Background and Aims Hepatocarcinogenesis goes through HCC progenitor cells (HcPCs) to fully established HCC, and the mechanisms driving the development of HcPCs are still largely unknown.
Ye Zhou, Kaiwei Jia, Suyuan Wang, Zhenyang Li, Yunhui Li, Shan Lu, Yingyun Yang, Liyuan Zhang, Mu Wang, Yue Dong, Luxin Zhang, Wannian Zhang, Nan Li, Yizhi Yu, Xuetao Cao, Jin Hou   +15 more
wiley   +1 more source

Activating mutations in protein tyrosine phosphatase Ptpn11 (Shp2) enhance reactive oxygen species production that contributes to myeloproliferative disorder. [PDF]

PLoS ONE, 2013
Gain of function (GOF) mutations in protein tyrosine phosphatase Ptpn11 have been identified in childhood leukemias, and these mutations are sufficient to drive the development of myeloproliferative disorder and malignant leukemias in mice.
Dan Xu, Hong Zheng, Wen-Mei Yu, Cheng-Kui Qu   +3 more
doaj   +1 more source

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. [PDF]

PLoS Genetics, 2011
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 ...
Margot E Bowen, Eric D Boyden, Ingrid A Holm, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V Bovée, Twinkal C Pansuriya, Sérgio B de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P Kozakewich, James R Kasser, Jon G Seidman, Kyle C Kurek, Matthew L Warman   +27 more
doaj   +1 more source