Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome.
|
30199583 |
2018 |
Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Altogether these data elucidate the molecular mechanisms of the ATR c.2101A>G mutation and identify two potential complementary RNA-based therapies for Seckel syndrome.
|
27639833 |
2017 |
Seckel syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwarfism disorder.
|
26908596 |
2016 |
Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATR, which also functions during replication, can cause Seckel syndrome, a clinically related disorder.
|
23516378 |
2013 |
Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, the only human genetic ATR defect reported so far is a hypomorphic splicing mutation identified in five related individuals with Seckel syndrome.
|
23111928 |
2013 |
Seckel syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Coupled with the identification of further ATR-deficient patients, our findings allow a spectrum of clinical features that can be ascribed to the ATR-ATRIP deficient sub-class of Seckel Syndrome.
|
23144622 |
2012 |
Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder.
|
22341969 |
2012 |
Seckel syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Microcephalic osteodysplastic primordial dwarfism type II protein PCNT and Seckel syndrome (also characterized by severe microcephaly) protein ATR are also centrosomal proteins.
|
21633703 |
2011 |
Seckel syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Seckel syndrome is associated with defective ATR dependent DNA damage signalling.
|
19643772 |
2010 |
Seckel syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We highlight a previous study from our laboratory demonstrating that UV-exposed, ATR-deficient Seckel syndrome fibroblasts, like XPV fibroblasts, manifest strong attenuation of GG-NER uniquely in S phase populations.
|
20457011 |
2010 |
Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although primary microcephaly can be caused by mutations in microcephalin (MCPH1), cells from patients with Seckel syndrome and MOPD II harbor mutations in ataxia telangiectasia and Rad3 related (ATR) or pericentrin (PCNT), leading to disturbed ATR signaling.
|
19546241 |
2009 |
Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, more sophisticated mouse models have been published including a conditional ATR-knockdown system and by modelling the human ATR-Seckel syndrome-causative mutation.
|
19782648 |
2009 |
Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we find that cells of individuals with Seckel syndrome due to mutations in PCNT (PCNT-Seckel) have defects in ATR-dependent checkpoint signaling, providing the first evidence linking a structural centrosomal protein with DNA damage signaling.
|
18157127 |
2008 |
Seckel syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While NBS shares overlapping characteristics with ataxia telangiectasia, it also has features overlapping with ATR-Seckel (ATR: ataxia-telangiectasia and Rad3-related protein) syndrome, a subclass of Seckel syndrome mutated in ATR.
|
15616588 |
2005 |
Seckel syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
|
12640452 |
2003 |
Seckel syndrome
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
Seckel syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
|
22341969 |
2012 |
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
|
22341969 |
2012 |
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia.
|
2212727 |
1990 |
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Seckel syndrome 1
|
0.610 |
AlteredExpression
|
disease |
BEFREE |
However, homozygous SCKL1 mice that retain the neo cassette used for targeting have an estimated 66-82% reduction in total Atr protein levels due to missplicing into the neo cassette.
|
19504344 |
2009 |
Seckel syndrome 1
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
|
12640452 |
2003 |