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Items: 4

1.

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below. A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states. To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals. more...
Organism:
Homo sapiens
Type:
Expression profiling by array; SNP genotyping by SNP array
Platforms:
GPL3720 GPL3718 GPL6244
138 Samples
Download data: CEL, CHP
Series
Accession:
GSE85817
ID:
200085817
2.

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach [SNP array]

(Submitter supplied) A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states. To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals. more...
Organism:
Homo sapiens
Type:
SNP genotyping by SNP array
Platforms:
GPL3720 GPL3718
92 Samples
Download data: CEL, CHP
Series
Accession:
GSE85814
ID:
200085814
3.

[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html The GeneChip® Human Mapping 500K Array Set provides consistently high coverage across different populations. It is comprised of two arrays, each capable of genotyping on average 250,000 SNPs (approximately 262,000 for Nsp arrays and 238,000 for Sty arrays). more...
Organism:
Homo sapiens
193 Series
11192 Samples
Download data
Platform
Accession:
GPL3718
ID:
100003718
4.

F5614Nsp, Patient

Organism:
Homo sapiens
Source name:
OOMMSC
Platform:
GPL3718
Series:
GSE85814 GSE85817
Download data: CEL, CHP
Sample
Accession:
GSM2284868
ID:
302284868
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