Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome.
|
25105227 |
2014 |
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
0.610 |
GermlineCausalMutation
|
disease |
ORPHANET |
Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome.
|
25105227 |
2014 |
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome.
|
25105227 |
2014 |
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Colorectal Carcinoma
|
0.330 |
Biomarker
|
disease |
BEFREE |
Laminin α1 orchestrates VEGFA functions in the ecosystem of colorectal carcinoma.
|
29907957 |
2018 |
Colorectal Carcinoma
|
0.330 |
Biomarker
|
disease |
BEFREE |
We identified novel driver mutations that developed during adenoma and cancer evolution, particularly in OR1B1 (GPCR signaling pathway) for adenoma evolution, and LAMA1 (PI3K-Akt signaling pathway) and ADCY3 (FGFR signaling pathway) for CRC evolution.
|
27941887 |
2017 |
Colorectal Carcinoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we found LAMB4 (11.8% of GC and 7.6% of CRC with MSI-H), LAMA3 (2.9% of GC and 2.5 of CRC with MSI-H), LAMA1 (5.9% of GC with MSI-H) and LAMB1 frameshift mutations (1.3% of CRC with MSI-H).
|
25257191 |
2015 |
Colorectal Carcinoma
|
0.330 |
Biomarker
|
disease |
CTD_human |
Genomic and epigenomic integration identifies a prognostic signature in colon cancer.
|
21278247 |
2011 |
Intellectual Disability
|
0.310 |
Biomarker
|
group |
BEFREE |
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
|
30244536 |
2018 |
Nonalcoholic Steatohepatitis
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
Nonalcoholic steatohepatitis (NASH), when compared with simple steatosis (SS), significantly increases the expression of TGFB1 (6.8, p<0.005), angiotensin I-converting enzyme (ACE) (2.1, p<0.007), LAMA1 (2.1, p<0.007), SERPINB2 (2.1, p<0.007), CSF2 (2.5, p<0.002), IL1A (2.5, p<0.005), IL3 (2.1, p<0.007), IL4 (2.1, p<0.007), LIF (2.1, p<0.007), and MMP1 (2.1, p<0.007), and decreases the transcript levels of genes involved in the negative regulation of cell-death pathways.
|
21664615 |
2011 |
Nonalcoholic Steatohepatitis
|
0.310 |
Biomarker
|
disease |
CTD_human |
Liver transcriptional profile of atherosclerosis-related genes in human nonalcoholic fatty liver disease.
|
21664615 |
2011 |
Intellectual Disability
|
0.310 |
Biomarker
|
group |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Colorectal Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Genomic and epigenomic integration identifies a prognostic signature in colon cancer.
|
21278247 |
2011 |
Profound Mental Retardation
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Mental Retardation, Psychosocial
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Schizophrenia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Increased exonic de novo mutation rate in individuals with schizophrenia.
|
21743468 |
2011 |
Non-alcoholic Fatty Liver Disease
|
0.300 |
Biomarker
|
disease |
CTD_human |
Liver transcriptional profile of atherosclerosis-related genes in human nonalcoholic fatty liver disease.
|
21664615 |
2011 |
Mental deficiency
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.120 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
|
30054458 |
2018 |
Retinal Dystrophies
|
0.120 |
GeneticVariation
|
group |
BEFREE |
In this paper we describe individuals with biallelic mutations in LAMA1, all of whom had the cerebellar dysplasia, myopia and retinal dystrophy, in addition to obsessive compulsive traits, tics and anxiety.
|
27095636 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.120 |
Biomarker
|
disease |
BEFREE |
We also examined the association of 3 additional loci: CCND2 and GIPR, identified in sex-differentiated analyses, and LAMA1, which was shown to be associated with non-obese European type 2 diabetes.
|
25951451 |
2015 |
Retinal Dystrophies
|
0.120 |
GeneticVariation
|
group |
BEFREE |
In one additional family, we identified two siblings who have truncating LAMA1 mutations in combination with retinal dystrophy and mild cerebellar dysplasia without cysts, indicating that cysts are not an obligate feature associated with loss of LAMA1 function.
|
25105227 |
2014 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.120 |
GeneticVariation
|
disease |
GWASDB |
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
|
22693455 |
2012 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
A variant (rs8090011) in the LAMA1 gene was associated with type 2 diabetes in lean cases (P = 8.4×10⁻⁹, OR = 1.13 [95% CI 1.09-1.18]), and this association was stronger than that in obese cases (P = 0.04, OR = 1.03 [95% CI 1.00-1.06]).
|
22693455 |
2012 |