Zhu-Tokita-Takenouchi-Kim syndrome
|
0.710 |
Biomarker
|
phenotype |
BEFREE |
Original articles on ZTTK syndrome published up to November 20l8 were identified from PubMed, Human Gene Mutation Database, Online Mendelian Inheritance in Man, China National Knowledge Infrastructure, and WanFang databases using the keywords "ZTTK syndrome" and "SON".
|
31557424 |
2019 |
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
|
27545680 |
2016 |
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
|
27545676 |
2016 |
Intellectual Disability
|
0.130 |
Biomarker
|
group |
BEFREE |
Along with the first and original description of the apparently de novo truncating mutation in SON mentioned above, we have established that haploinsufficiency of SON causes a new recognizable syndrome of intellectual disability.
|
27256762 |
2016 |
Horseshoe Kidney
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Detailed phenotyping of 14 patients with SON haploinsufficiency identified kidney anomalies in 8 patients, including horseshoe kidney, unilateral renal hypoplasia, and renal cysts.
|
31005274 |
2019 |
Global developmental delay
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies.
|
27545676 |
2016 |
Malignant Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.
|
30680470 |
2019 |
Malignant Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
Furthermore, SON was implicated to have a key role in stem cells as well as during the onset of various diseases such as cancer, influenza, and hepatitis.
|
24789761 |
2015 |
Malignant Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
We propose that our future effort on better understanding of diverse SON functions would reveal novel targets for cancer therapy.
|
24030980 |
2014 |
Malignant Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
Our data furthermore suggest a possible role of Dbp5/DDX19 in alternative translation termination events, such as during stress response or in developmental processes, which classifies the helicase as a potential drug target for nonsense suppression therapy to treat cancer and neurodegenerative diseases.
|
30873535 |
2019 |
Malignant Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
These results reveal a mechanism for controlling cell-cycle progression through SON-dependent constitutive splicing at suboptimal splice sites, with strong implications for its role in cancer and other human diseases.
|
21504830 |
2011 |
Primary malignant neoplasm
|
0.050 |
Biomarker
|
group |
BEFREE |
Our data furthermore suggest a possible role of Dbp5/DDX19 in alternative translation termination events, such as during stress response or in developmental processes, which classifies the helicase as a potential drug target for nonsense suppression therapy to treat cancer and neurodegenerative diseases.
|
30873535 |
2019 |
Primary malignant neoplasm
|
0.050 |
Biomarker
|
group |
BEFREE |
Furthermore, SON was implicated to have a key role in stem cells as well as during the onset of various diseases such as cancer, influenza, and hepatitis.
|
24789761 |
2015 |
Primary malignant neoplasm
|
0.050 |
Biomarker
|
group |
BEFREE |
We propose that our future effort on better understanding of diverse SON functions would reveal novel targets for cancer therapy.
|
24030980 |
2014 |
Primary malignant neoplasm
|
0.050 |
Biomarker
|
group |
BEFREE |
These results reveal a mechanism for controlling cell-cycle progression through SON-dependent constitutive splicing at suboptimal splice sites, with strong implications for its role in cancer and other human diseases.
|
21504830 |
2011 |
Primary malignant neoplasm
|
0.050 |
Biomarker
|
group |
BEFREE |
Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.
|
30680470 |
2019 |
leukemia
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Our findings define SON as a fine-tuner of the MLL-menin interaction and reveal short SON overexpression as a marker indicating aberrant transcriptional initiation in leukemia.
|
26990989 |
2016 |
leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Here, we investigate the role of 2 AML1-ETO C-terminal-interacting proteins, N-CoR, a transcriptional corepressor, and SON, a splicing/transcription factor required for cell cycle progression, in AML1-ETO-induced leukemia development.
|
23426948 |
2013 |
Childhood Leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Here, we investigate the role of 2 AML1-ETO C-terminal-interacting proteins, N-CoR, a transcriptional corepressor, and SON, a splicing/transcription factor required for cell cycle progression, in AML1-ETO-induced leukemia development.
|
23426948 |
2013 |
Childhood Leukemia
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Our findings define SON as a fine-tuner of the MLL-menin interaction and reveal short SON overexpression as a marker indicating aberrant transcriptional initiation in leukemia.
|
26990989 |
2016 |
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies.
|
27545676 |
2016 |
Fatigue
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Rats were subjected to a treadmill running that was interrupted at three different moments: (1) at the early phase, when minimal heat dissipation occurred due to tail vasoconstriction and the tail skin temperature (T<sub>skin</sub>) reached its nadir; (2) at the steady-state phase, when both the T<sub>skin</sub> and core body temperature (T<sub>core</sub>) plateaued at a high level (~ 20 min); and (3) at fatigue, when T<sub>core</sub> and T<sub>skin</sub> were still elevated. c-Fos expression in the medial and ventromedial preoptic areas (mPOA and vmPOA), median preoptic nucleus (MnPO), paraventricular and supraoptic nucleus (PVN and SON), and septohypothalamic nucleus (SHy) was determined.
|
31399877 |
2019 |
Hepatitis
|
0.010 |
Biomarker
|
group |
BEFREE |
Furthermore, SON was implicated to have a key role in stem cells as well as during the onset of various diseases such as cancer, influenza, and hepatitis.
|
24789761 |
2015 |
Hepatitis A
|
0.010 |
Biomarker
|
disease |
BEFREE |
Furthermore, SON was implicated to have a key role in stem cells as well as during the onset of various diseases such as cancer, influenza, and hepatitis.
|
24789761 |
2015 |
Influenza
|
0.010 |
Biomarker
|
disease |
BEFREE |
Notably, SON DNA binding protein (SON) was found to be important for normal trafficking of influenza virions to late endosomes early in infection.
|
20081832 |
2010 |