|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cells depleted with RecQL4 or Rothmund-Thomson syndrome cells showed significant impairment in the activation of ATM and the downstream effector proteins such as checkpoint kinase 2 and p53 after DNA damage.
|
30594395 |
2019 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Future studies need to be performed to elucidate the complex interactions of RECQL4 domains and its contribution to the development of RTS.
|
31276497 |
2019 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results demonstrate that deficiency in the APC/C is a cause of RTS type 1 and suggest a possible link between the APC/C and RECQL4 helicase because both proteins are involved in DNA repair and replication.
|
31303264 |
2019 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer.
|
31772289 |
2019 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RECQL4 mutations mainly in the C-terminal region of the RECQL4 gene lead to the cancer-predisposing Rothmund-Thomson syndrome, but the function of RECQL4ΔC (C-terminus deleted) in error-prone DNA repair remains unclear.
|
31495919 |
2019 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, mutations in RecQL4 result in three human disorders: (I) Rothmund-Thomson syndrome (RTS), (II) RAPADILINO and (III) Baller-Gerold syndrome (BGS).
|
29080750 |
2018 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study expands the mutational spectrum of RECQL4 gene and reveals novel phenotypes observed in Chinese RTS patients.
|
29462647 |
2018 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RECQL4 mutations cause several genetic disorders including Rothmund-Thomson syndrome (RTS), characterized by developmental defects and predisposition to osteosarcoma.
|
30312871 |
2018 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Chromosome mosaicism and isochromosomes involving chromosomes 2, 7, and 8 have been reported in RecQL4-deficient RTS patients, but the precise role of RecQL4 in chromosome segregation/stability remains to be elucidated.
|
30206236 |
2018 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RECQL4 are responsible for the majority of cases of RTS.
|
27287744 |
2017 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RECQL4 have been linked to three diseases including Rothmund-Thomson syndrome, which is characterized by osteoskeletal deformities, photosensitivity, and increased osteosarcoma susceptibility.
|
28159839 |
2017 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using a RECQL4-deficient mouse model that recapitulates skeletal abnormalities seen in individuals with RTS, we demonstrate that generalized skeletal involvement is likely due to decreased osteogenesis.
|
28486640 |
2017 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In humans, mutations in three RecQ genes - BLM, WRN, and RECQL4 - give rise to Bloom's syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS), respectively.
|
27238185 |
2017 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
RECQL4, deficient in Rothmund-Thomson Syndrome, promotes the two major DSB repair pathways, non-homologous end joining (NHEJ) and homologous recombination (HR).
|
29229926 |
2017 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in RECQL4 cause type II Rothmund-Thomson syndrome (RTS), characterized by a premature ageing phenotype and cancer predisposition.
|
26690729 |
2016 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in RECQL4 helicase are associated with Rothmund-Thomson syndrome, which is characterized by a predisposition to cancer.
|
26906415 |
2016 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Complex phenotypes are also observed for RECQL4 helicase mutations responsible for Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO.
|
23276657 |
2015 |
|
Rothmund-Thomson syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
|
24518840 |
2014 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of RecQ helicase RECQL4 leads to Rothmund-Thomson syndrome (RTS), and we have investigated whether senescence is involved using cellular approaches and a mouse model.
|
24832598 |
2014 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
|
24960165 |
2014 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In humans, there are five RECQ helicase genes, and mutations in three of them-BLM, WRN, and RECQL4-are associated with the genetic disorders Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS), respectively.
|
24924172 |
2014 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RECQL4 mutations can lead to Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO.
|
23161009 |
2013 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.
|
23683351 |
2013 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The familial genetics of osteosarcoma helped in elucidating some of the etiological molecular disruptions, such as the tumor suppressor genes RB1 in retinoblastoma and TP53 in Li-Fraumeni, and RECQL4 involved in DNA repair/replication in Rothmund-Thomson syndrome.
|
23412794 |
2013 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RECQL4 gene are only observed in two thirds of RTS patients.
|
21872685 |
2012 |