|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
|
30481304 |
2019 |
|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
|
30368668 |
2019 |
|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.
|
29959388 |
2019 |
|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
|
30368668 |
2019 |
|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
|
30442762 |
2018 |
|
NOONAN SYNDROME 10
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
|
29469822 |
2018 |
|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
LZTR1 is a regulator of RAS ubiquitination and signaling.
|
30442766 |
2018 |
|
NOONAN SYNDROME 10
|
0.910 |
Biomarker
|
disease |
MGD |
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
|
30442762 |
2018 |
|
NOONAN SYNDROME 10
|
0.910 |
Biomarker
|
disease |
BEFREE |
Two potential fungal strains, namely, Penicillium oxalicum NS4 (KU559906) and Penicillium chrysogenum NS10 (KU559907) had been isolated and identified to have plastic degrading abilities.
|
28051105 |
2017 |
|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
|
25795793 |
2015 |
|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
|
25795793 |
2015 |
|
NOONAN SYNDROME 10
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
|
25795793 |
2015 |
|
NOONAN SYNDROME 10
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.
|
16356934 |
2006 |
|
NOONAN SYNDROME 10
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
NOONAN SYNDROME 10
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
NOONAN SYNDROME 10
|
0.910 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
|
31825158 |
2020 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LZTR1 have been identified in glioblastoma, schwannomatosis, and Noonan syndrome.
|
31337872 |
2020 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Considering the implication of LZTR1 in sporadic tumors of the nervous system, we hypothesize that gliomas are a possible complication of LZTR1-related Noonan syndrome.
|
30664951 |
2020 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.
|
29959388 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in LZTR1 (MIM:600574) have been described in a few patients with Noonan syndrome (NS).
|
31533111 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Although LZTR1 variants explain ~0.1% of cases across the DDD cohort, the gene is a relatively common cause of unsolved NS cases where recessive inheritance is suspected.
|
30859559 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified eight LZTR1 variants, including a de novo variant, in seven probands who were suspicious for NS and one known de novo PPP1CB variant in a patient with NS.
|
30368668 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Moreover, two compound heterozygous missense mutations in the LZTR1 gene were identified in one patient with the Noonan syndrome phenotype and HCM.
|
30732632 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Two classes of germline LZTR1 mutations underlie dominant and recessive forms of NS, while constitutional monoallelic, mostly inactivating, mutations in the same gene cause schwannomatosis, a cancer-prone disorder clinically distinct from NS.
|
30481304 |
2019 |