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 |
BEFREE |
We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172.
|
28291807 |
2017 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
The TZ is known to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction, interdependent protein localisation (hierarchy), and proteomic studies.
|
26982032 |
2016 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland.
|
27377014 |
2016 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
A minority of the individuals with MKS1-related JS have MKS features.
|
26490104 |
2016 |
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 |
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 |
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 |
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 |
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 |
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 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
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 |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L).
|
21493627 |
2011 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS.
|
21763481 |
2011 |
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 |
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 |
UNIPROT |
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|
19466712 |
2009 |
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 |