|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Snyder-Robinson syndrome (SRS) is a form of X-linked mental retardation resulting from mutations in spermine synthase (SMS), which impact neurodevelopment and cognitive outcome.
|
19277733 |
2009 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To investigate the mutability of the SMS, we carried out in silico analysis and in vitro experiments of the effects of amino acid substitutions at the missense mutation sites (G56, V132 and I150) that have been shown to cause SRS.
|
21647366 |
2011 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Since dimerization and structural stability are equally important for the wild type function of SpmSyn, it is proposed that the SRS caused by mutations occurring in the N-domain of SpmSyn is a result of dysfunctional mutant proteins being partially unfolded and degraded by the proteomic machinery of the cell or being unable to form a homo-dimer.
|
26761001 |
2016 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
Biomarker
|
disease |
BEFREE |
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
|
29348635 |
2018 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the spermine synthase gene are associated with Snyder Robinson mental retardation syndrome.
|
30967493 |
2019 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
Biomarker
|
disease |
BEFREE |
Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).
|
21318891 |
2011 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical exome sequencing identified a novel missense mutation in the spermine synthase gene (SMS) that causes Snyder-Robinson syndrome (SRS).
|
26174906 |
2016 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
|
31580924 |
2019 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development.
|
18550699 |
2008 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in spermine synthase (SMS), a polyamine biosynthesis enzyme, cause Snyder-Robinson syndrome (SRS), an X-linked intellectual disability syndrome; however, little is known about the neuropathogenesis of the disease.
|
29097652 |
2017 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It was shown that gene defects resulting in amino acid changes of the wild type SMS cause Snyder-Robinson syndrome, which is a mild-to-moderate mental disability associated with osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder.
|
23468611 |
2013 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
|
23696453 |
2013 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This investigation deals with a particular SRS-causing mutation, the G56S mutation, which was shown computationally and experimentally to destabilize the SMS homo-dimer and thus to abolish SMS enzymatic activity.
|
25340632 |
2014 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X).
|
23897707 |
2013 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome.
|
19206178 |
2009 |
|
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with Snyder-Robinson Syndrome (SRS) exhibit deficient Spermidine Synthase (SMS) gene expression, which causes neurodevelopmental defects and osteoporosis, often leading to extremely fragile bones.
|
31659216 |
2019 |
|
Rheumatoid Arthritis
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Retinoic acid (RA) treatment of SMS-KCNR neuroblastoma (NB) cells leads to G1 growth arrest and neuronal differentiation.
|
9681834 |
1998 |
|
Rheumatoid Arthritis
|
0.320 |
Biomarker
|
disease |
BEFREE |
The efficacy of motivational counselling and SMS reminders on daily sitting time in patients with rheumatoid arthritis: a randomised controlled trial.
|
28584189 |
2017 |
|
Mood Disorders
|
0.320 |
GeneticVariation
|
group |
BEFREE |
Several SAT1 polymorphisms displayed disease-specific risk alleles, and polymorphisms in this gene were involved in gene-gene interactions with SMS to confer risk for anxiety disorders, as well as gene-environment interactions between childhood physical abuse and mood disorders.
|
21152090 |
2010 |
|
Mood Disorders
|
0.320 |
Biomarker
|
group |
BEFREE |
The aim of this study is to examine whether receiving supporting SMS text messages, following discharge from an inpatient dual diagnosis treatment programme, has a positive impact on mood and alcohol abstinence in patients with an AUD and a comorbid mood disorder.
|
28554910 |
2017 |
|
Bipolar Disorder
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
SMS, a gene on X chromosome, showed significantly higher DNA methylation level in female patients with bipolar disorder compared with control females.
|
17471289 |
2008 |
|
Intellectual Disability
|
0.170 |
Biomarker
|
group |
BEFREE |
Examples include SUMF1, KDM5B and MXRA5 (Known-ASD genes), PRODH2 and KCTD21 (implicated in schizophrenia), as well as USP9X and SMS (implicated in intellectual disability).
|
28720891 |
2017 |
|
Intellectual Disability
|
0.170 |
GeneticVariation
|
group |
BEFREE |
Snyder-Robinson syndrome (SRS) is an X-linked syndromic intellectual disability condition caused by variants in the spermine synthase gene (SMS).
|
31580924 |
2019 |
|
Intellectual Disability
|
0.170 |
Biomarker
|
group |
BEFREE |
We examined this issue using SRS-2 (Social Responsiveness Scale-Second Edition) measures of social-communicative functioning and repetitive behaviors in a stratified cross-sectional sample of 324 youth with ASD in the absence of intellectual disability, and 438 TD youth (aged 4-29 years).
|
27878739 |
2017 |
|
Intellectual Disability
|
0.170 |
GeneticVariation
|
group |
BEFREE |
Snyder-Robinson syndrome is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech.
|
23897707 |
2013 |