Results 1 to 10 of about 243 (109)

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   +3 more sources

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   +2 more sources

Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations

Frontiers in Pediatrics, 2022
BackgroundThe PTPN11 gene, located at 12q24. 13, encodes protein tyrosine phosphatase 2C. Mutations in the PTPN11 gene can lead to various phenotypes, including Noonan syndrome and LEOPARD syndrome.
Yuqi Miao, Jiahui Chen, Xiaoya Guo, Yu Wei, Xiaozhi Wu, Yanmei Sang, Di Wu   +6 more
doaj   +3 more sources

LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient

Case Reports in Dermatological Medicine, 2023
LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene.
Hussein M. Alshamrani, Luai M. Assaedi, Jumanah A. Bahattab, Abdulrahman M. Mohammad, Magdy R. Abdulghani   +4 more
doaj   +3 more sources

Activating Mutations in PTPN11 and KRAS in Canine Histiocytic Sarcomas [PDF]

Genes, 2019
While the genetic contributions to the predisposition of Bernese mountain dogs (BMDs) to histiocytic sarcoma (HS) remains unclear, some insights into key genetic drivers have been gained. Our group recently reported a mutation in the PTPN11 gene (E76K).
Marilia Takada, Vilma Yuzbasiyan-Gurkan, Tuddow Thaiwong   +2 more
exaly   +3 more sources

Spectrum of Mutations in PTPN11 in Russian Cohort

Genes
Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the PTPN11 gene.
Anna Orlova, Oxana Ryzhkova
exaly   +3 more sources

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

European Journal of Human Genetics, 2003
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation. It was described in 1986, and to date is of unknown genetic etiology. All reported cases are sporadic, born to non-
Giovanni Neri, Maria Grazia Pomponi, John Opitz   +2 more
exaly   +4 more sources

Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome

Journal of the Formosan Medical Association, 2007
Noonan syndrome (NS) is an autosomal dominant disorder presenting with characteristic facies, short stature, skeletal anomalies, and congenital heart defects.
Chia-Sui Hung, Ju-Li Lin, Yann-Jinn Lee, Shuan-Pei Lin, Mei-Chyn Chao, Fu-Sung Lo   +5 more
doaj   +3 more sources

LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation

Annals of Pediatric Cardiology, 2011
In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM).
Ganigara Madhusudan, Prabhu Atul, Kumar Raghvannair   +2 more
doaj   +3 more sources

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