ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia-telangiectasia-like disorder (ATLD) is a rare genomic instability syndrome caused by biallelic variants of MRE11 (meiotic recombination 11) characterized by progressive cerebellar ataxia and typical karyotype abnormalities.
|
31033087 |
2019 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As depletion of R2TP frequently leads to instability of its substrates and as truncation mutation of MRE11 lacking serines 688/689 leads to decreased levels of the MRN complex both in ATLD patients and an ATLD mouse model, our results suggest that the MRN complex is a novel R2TP complex substrate and that their interaction is regulated by CK2 phosphorylation.
|
28436950 |
2017 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
|
29348823 |
2017 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
|
27329137 |
2016 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
|
25452441 |
2015 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MRE11 gene have been known to cause an ataxia-telangiectasia-like (ATLD) disorder.
|
24332946 |
2014 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we have examined the impact on DNA damage signaling of several disease-associated MRE11A alleles to gain greater understanding of the mechanisms underlying the diverse disease sequelae of ATLD.
|
23912341 |
2013 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia-telangiectasia-like disorder (ATLD) due to mutations in the MRE11 gene is a very rare autosomal recessive disease, described so far in only 20 patients.
|
23436002 |
2013 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.
|
23912341 |
2013 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have examined the role that Mre11 may play in the fusion of short telomeres in human cells; to do this, we have analysed telomere fusion events in cells derived from ataxia-telangiectasia-like disorder (ATLD) patients that exhibit hypomorphic mutations in MRE11.
|
22139912 |
2012 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we combine biochemical, structural and in vivo functional studies to uncover key properties of Mre11-W243R, a mutation identified in two pediatric cancer patients with enhanced ataxia telangiectasia-like disorder.
|
23080121 |
2012 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.
|
23080121 |
2012 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the APTX gene were reported in AOA1 patients, mutations in SETX gene were reported in patients with AOA2 and mutations in MRE11 were identified in ATLD patients.
|
21324166 |
2011 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
|
21227757 |
2011 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Additionally, mutations in the MRE11A gene are known to lead to an ataxia-telangiectasia-like disorder (ATLD), a late-onset, slowly progressive variant of ataxia-telangiectasia without microcephaly.
|
21227757 |
2011 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia-telangiectasia-like disorder (ATLD) is caused by mutations of the MRE11 gene and is characterized by cerebellar ataxia, increased frequency of chromosomal translocations and hypersensitivity to ionizing radiation.
|
20087742 |
2010 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively.
|
19409520 |
2009 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder.
|
18652530 |
2008 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ataxia telangiectasia-like syndrome (ATLD) is a more recently recognized condition due to homozygous mutation in MRE11, a gene also involved in the cellular repair response to double-stranded DNA breaks; ophthalmic features of ATLD are not well described.
|
18083591 |
2008 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have investigated the latter possibility by studying the in vivo SHM pattern in B cells from ataxia-telangiectasia-like disorder (Mre11 deficient) and Nijmegen breakage syndrome (NBS1 deficient) patients.
|
18575580 |
2008 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline BRCA2 mutations predispose to ovarian, breast and pancreatic cancer, while a germline MRE11 mutation is associated with an ataxia telangiectasia-like disorder.
|
16417627 |
2006 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
|
15574463 |
2005 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
|
15269180 |
2004 |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we describe that switching is less efficient in cells from patients with Mre11 deficiency (Ataxia-Telangiectasia-like disorder, ATLD) and, more importantly, that the switch recombination junctions resulting from the in vivo switching events are aberrant.
|
14747472 |
2004 |