Results 41 to 50 of about 14,972 (184)

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome

Journal of the Formosan Medical Association, 2013
Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which encodes
Mona L. Essawi, Manal F. Ismail, Hanan H. Afifi, Maha M. Kobesiy, Ahmed El Kotoury, Maged M. Barakat   +5 more
doaj   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Genomic data from NSCLC tumors reveals correlation between SHP-2 activity and PD-L1 expression and suggests synergy in combining SHP-2 and PD-1/PD-L1 inhibitors.

PLoS ONE, 2021
The identification of novel therapies, new strategies for combination of therapies, and repurposing of drugs approved for other indications are all important for continued progress in the fight against lung cancers.
Keller J Toral, Mark A Wuenschel, Esther P Black   +2 more
doaj   +1 more source

Clinicogenomic Features and Outcomes of Adenoid Cystic Carcinoma With Central Nervous System Metastases: A Single‐Institution Cohort Study

Head &Neck, EarlyView.
ABSTRACT Background Adenoid cystic carcinoma (ACC) is a rare malignancy with a propensity for perineural invasion and hematogenous spread. Central nervous system (CNS) involvement is uncommon, and detailed clinical and genomic data on this aspect of the disease remain limited.
Omar Elghawy, Jack Stylli, Martin Kurian, Eitan Halper‐Stromberg, Aditi Singh, Christopher D'Avella, Lee Hartner, Roger B. Cohen   +7 more
wiley   +1 more source

PTPN11 is a potential biomarker for type 2 diabetes mellitus complicated with colorectal cancer

Scientific Reports
Epidemiological surveys have shown that the incidence of type 2 diabetes mellitus (T2DM) and malignancies is rapidly increasing worldwide and has become a major disease that threatens human life.
Meiling Sun, Zhe Han, Zhimin Luo, Lijuan Ge, Xiaolin Zhang, Keshu Feng, Guoshan Zhang, Fuyi Xu, Hongpan Zhou, Hailin Han, Wenguo Jiang   +10 more
doaj   +1 more source

miR-186 Inhibits Liver Cancer Stem Cells Expansion via Targeting PTPN11

Frontiers in Oncology, 2021
MicroRNAs (miRNAs) participated in the regulation of tumorigenesis, progression, metastasis, recurrence and chemo-resistance of cancers. However, the potential function of miRNAs in cancer stem cells (CSCs) or tumor-initiating cells (T-ICs) was not ...
Haochen Yao, Haochen Yao, Ziting Yang, Yan Lou, Juanjuan Huang, Pinghua Yang, Weiqi Jiang, Shuai Chen   +7 more
doaj   +1 more source

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-
Kavamura, M. I., Pomponi, M. G., Zollino, M., Lecce, R., Murdolo, M., Brunoni, Decio UNIFESP, Alchorne, Maurício Mota de Avelar UNIFESP, Opitz, J. M., Neri, G.   +8 more
openaire   +3 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   +1 more source

Myeloid Focal Adhesion Kinase Promotes Macrophage Accumulation but Does Not Alter Tumor Progression in Hepatocellular Carcinoma

Molecular Carcinogenesis, EarlyView.
ABSTRACT Hepatocellular carcinoma (HCC) develops within an immunologically complex tumor microenvironment that is heavily shaped by infiltrating myeloid cells. Immune‐based treatment strategies such as atezolizumab plus bevacizumab have shown promising therapeutic benefits, but patients do not experience durable responses.
Eugene Ham, Kyle Boedeker, Claudia Rose Keating, Ruisong Ye, Frankie Montalbano, Sophia Mankaruse, Xianzhong Ding, Jonathan P. Rennhack, Wei Qiu   +8 more
wiley   +1 more source

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

JCRPE
INTRODUCTION: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays.
Ruken Yıldırım, Edip Ünal, Şervan Özalkak, Akçahan Akalın, Ayça Aykut, Nevzat Yılmaz   +5 more
doaj   +1 more source