|
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 |
GeneticVariation
|
disease |
CLINVAR |
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.
|
11371508 |
2001 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Mre11 complex cause A-TLD and NBS.
|
10801460 |
2000 |
|
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 |
Mutations in the MRE11 gene have been known to cause an ataxia-telangiectasia-like (ATLD) disorder.
|
24332946 |
2014 |
|
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, mice expressing one of the two Mre11 alleles inherited in the human ataxia-telangiectasia like disorder (A-TLD) were derived.
|
14690604 |
2003 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 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 |
GeneticVariation
|
disease |
CLINVAR |
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
|
10612394 |
1999 |
|
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 |
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
|
15574463 |
2005 |
|
Ataxia-Telangiectasisa-Like Disorder 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MRE11 gene have been known to cause an ataxia-telangiectasia-like (ATLD) disorder.
|
24332946 |
2014 |
|
Ataxia-Telangiectasisa-Like Disorder 1
|
0.700 |
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-Telangiectasisa-Like Disorder 1
|
0.700 |
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-Telangiectasisa-Like Disorder 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
|
15269180 |
2004 |
|
Ataxia-Telangiectasisa-Like Disorder 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Mre11 complex cause A-TLD and NBS.
|
10801460 |
2000 |
|
Ataxia-Telangiectasisa-Like Disorder 1
|
0.700 |
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 |