|
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 |
|
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 |
|
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 |
|
Retinal Dystrophies
|
0.120 |
Biomarker
|
group |
HPO |
|
|
|
|
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 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Restricted distribution of laminin alpha1 chain in normal adult mouse tissues.
|
10607917 |
1999 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
|
25105227 |
2014 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
|
27095636 |
2016 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix.
|
6795355 |
1981 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform.
|
9151674 |
1997 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.
|
20048158 |
2010 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
|
24013853 |
2014 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Update on activities at the Universal Protein Resource (UniProt) in 2013.
|
23161681 |
2013 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation.
|
15102706 |
2004 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The laminin family.
|
23263632 |
2013 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Crystal structure of the LG1-3 region of the laminin alpha2 chain.
|
19553699 |
2009 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3.
|
2591971 |
1989 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The NCBI BioSystems database.
|
19854944 |
2010 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
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 |
|
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Of note, the loss expression was more common in the cancers with LAMB4 mutation or those with MSI-H. Our data show that frameshift mutations of LAMA1, LAMA3, LAMB1 and LAMB4, and loss of LAMB4 may be features of GC and CRC with MSI-H.
|
25257191 |
2015 |
|
Adenoma
|
0.010 |
Biomarker
|
group |
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 |
|
Anxiety Disorders
|
0.010 |
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 |
|
Congenital chromosomal disease
|
0.010 |
Biomarker
|
group |
BEFREE |
LAMA-84 cells retained the patient's chromosome abnormalities, i.e., triplication of all chromosomes except chromosome 18, the presence of Philadelphia (Ph) chromosome in 4-5 copies, and the presence of chromosome markers.
|
3476310 |
1987 |