|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The effect of superinfection by T4r+ coliphage on the deoxyribonucleeases of induced Escherichia coli Y10.
|
4886560 |
1969 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
|
24886560 |
2014 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
A Meckel syndrome critical region (MKS1) maps to human Chromosome (Chr) 17, in a region of homology to mouse Chr 11.
|
15112103 |
2004 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration.
|
23349226 |
2013 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
|
24886560 |
2014 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
|
17185389 |
2007 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we show that loss of function of mouse Mks1 results in an accurate model of human MKS, with structural abnormalities in the neural tube, biliary duct, limb patterning, bone development and the kidney that mirror the human syndrome.
|
19776033 |
2009 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation.
|
26490104 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report a cohort of 26 patients referred for genetic analysis of Joubert (JBTS) and Meckel-Gruber (MKS) syndromes, two clinically and genetically heterogeneous neurodevelopmental conditions that define a phenotypic spectrum, with MKS at the severe end.
|
26729329 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
|
27570071 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the case of prenatal ultrasound findings that are highly suggestive of MKS and a negative NGS MKS gene panel, WES should also be performed to not miss rare gene associations.
|
30851085 |
2019 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome.
|
24643152 |
2014 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The exclusion of this and the other seven MKS genes in our collection of consanguineous Arab MKS families confirms the existence of two additional MKS loci.
|
21462283 |
2011 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
|
19515853 |
2009 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The secondary aim was to screen for novel mutations in the coding sequence of the MKS1 gene of MKS fetuses and to obtain genotype-phenotype correlations where possible.
|
17935508 |
2007 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of primary cilia.
|
21110233 |
2011 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation.
|
26490104 |
2016 |
|
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
|
17437276 |
2007 |
|
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
This novel model system offers insights into the role of MKS1 in Wnt signalling and proliferation, and the impact of deregulation of these processes on brain and kidney development in MKS, as well as expanding our understanding of the role of Mks1 in multiple signalling pathways.
|
23454480 |
2013 |