نتایج جستجو برای: sos1

تعداد نتایج: 389  

Journal: :Revista espanola de cardiologia 2012
Begoña Ezquieta José L Santomé Atilano Carcavilla Encarna Guillén-Navarro Antonio Pérez-Aytés Jaime Sánchez del Pozo Sixto García-Miñaur Emilia Castillo Milagros Alonso Teresa Vendrell Alfredo Santana Enrique Maroto Liliana Galbis

INTRODUCTION AND OBJECTIVES Molecular characterization of congenital heart diseases now includes the not infrequent dysmorphic Noonan syndrome. A study of 6 genes of the RAS-MAPK pathway in Spanish patients is presented: the impact of heart disease, clinical expressivity, and diagnostic yield are investigated. METHODS The study included 643 patients (and 182 family members) diagnosed by dysmo...

2017
Xinrui Liu Bin Song Shanji Li Nan Wang Hongfa Yang

Low-grade gliomas (LGGs) are associated with neurological disability. The present study used microRNA (miRNA) expression profiles to identify risk miRNAs for potential prognosis of cerebral LGGs. miRNA expression profiles and clinical data from 408 patients with cerebral LGGs were obtained from the Cancer Genome Atlas database. Risk miRNAs were identified by plotting Kaplan‑Meier curves and Cox...

Journal: :Journal of medical genetics 2015
Guilherme Lopes Yamamoto Meire Aguena Monika Gos Christina Hung Jacek Pilch Somayyeh Fahiminiya Anna Abramowicz Ingrid Cristian Michelle Buscarilli Michel Satya Naslavsky Alexsandra C Malaquias Mayana Zatz Olaf Bodamer Jacek Majewski Alexander A L Jorge Alexandre C Pereira Chong Ae Kim Maria Rita Passos-Bueno Débora Romeo Bertola

BACKGROUND Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The identification of novel genes associated with Noonan syndrome has become increasingly challenging, since they might be responsible for very s...

2017
Mei Ying Ng Mei Wang Patrick J. Casey Yunn-Hwen Gan Thilo Hagen

Cycle inhibiting factors (Cifs) are virulence proteins secreted by the type III secretion system of some Gram-negative pathogenic bacteria including Burkholderia pseudomallei. Cif is known to function to deamidate Nedd8, leading to inhibition of Cullin E3 ubiquitin ligases (CRL) and consequently induction of cell cycle arrest. Here we show that Cif can function as a potent activator of MAPK/ERK...

Journal: :The Journal of infectious diseases 2000
M Okamoto I Nagata J Murakami S Kaji T Iitsuka T Hoshika R Matsuda Y Tazawa K Shiraki S Hino

Of 21,791 pregnant women screened in Tottori Prefecture, Japan, 127 (0.58%) were positive for anti-hepatitis C virus (HCV) antibody and 84 (0.39%) were positive for HCV RNA. Of 84 children followed up for at least 6 months, 7 (8%) were infected. All of them were born to 26 mothers with a high virus load (HVL; >/=2.5x106 RNA copies/mL [27%]), compared with 0 of 58 children born to non-HVL mother...

Journal: :European Journal of Cancer 2022

Background: KRAS is one of the most frequently mutated oncogenes in human cancer. Recent successes with G12C-specific inhibitors are changing treatment paradigm this subset cancer patients. An alternative strategy targeting downstream effectors, such as MEK. However, MEK have historically proven unsuccessful monotherapy mutant cancers, highlighting need for combinatory approaches. One possibili...

2017
Dekoum V. M. Assaha Akihiro Ueda Hirofumi Saneoka Rashid Al-Yahyai Mahmoud W. Yaish

Ionic stress is one of the most important components of salinity and is brought about by excess Na+ accumulation, especially in the aerial parts of plants. Since Na+ interferes with K+ homeostasis, and especially given its involvement in numerous metabolic processes, maintaining a balanced cytosolic Na+/K+ ratio has become a key salinity tolerance mechanism. Achieving this homeostatic balance r...

2015
Rita Sharma Manjari Mishra Brijesh Gupta Chirag Parsania Sneh L. Singla-Pareek Ashwani Pareek

Oilseed mustard, Brassica juncea, exhibits high levels of genetic variability for salinity tolerance. To obtain the global view of transcriptome and investigate the molecular basis of salinity tolerance in a salt-tolerant variety CS52 of B. juncea, we performed transcriptome sequencing of control and salt-stressed seedlings. De novo assembly of 184 million high-quality paired-end reads yielded ...

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