96 results for "study_type:"exome sequencing" AND repository:ega"

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• Exome-sequencing identifies new oncogenes and tumor suppressor genes recurrently altered in hepatocellular carcinoma

  Hepatocellular carcinoma (HCC) is the most common primary liver malignancy. High-resolution copy number analysis of 125 tumors of which 24 were subjected to whole-exome sequencing identified 135 homozygous deletions and 994 somatic gene mutations with predicted functional consequences. We identified new recurrent alterations in 4 genes (ARID1A, RPS6KA3, NFE2L2 and IRF2) not previously described in HCC. Functional analyses demonstrated tumor suppressor properties for IRF2 whose inactivation, exclusively found in hepatitis B virus related tumors, leads to impaired TP53 function. Alternatively, inactivation of proteins involved in chromatin remodeling was frequent and predominant in alcohol related tumors. Moreover, activation of the oxidative stress metabolism and inactivation of RPS6KA3 were new pathways associated with WNT/beta-catenin activation, thereby suggesting a cooperative effect in tumorigenesis. This study shows the dramatic somatic genetic diversity in HCC, it reveals interactions between oncogene and tumor suppressor gene mutations markedly related to specific risk factors.

  Study EGAS00001000217

• Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans

  Study EGAS00001007423

• Submission 40 - study_title 1

  Submission 40 - description 1

  Study EGAS50000000055

• Submission 296 - study_title 1

  Submission 296 - description 1

  Study EGAS50000000391

• Submission 225 - study_title 1

  Submission 225 - description 1

  Study EGAS50000000424

• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_again

  Amyotrophic Lateral Sclerosis (ALS) is a progressive disease with prevalent mitochondrial dysfunctions affecting both upper and lower motor neurons in the motor cortex, brainstem, and spinal cord. Our study aimed to simultaneously screen for variants within nDNA encoded mitochondrial genes and mtDNA genomes to assess for specific variant enrichment in ALS compared to control tissues.

  Study EGAS50000000444

• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_4

  Amyotrophic Lateral Sclerosis (ALS) is a progressive disease with prevalent mitochondrial dysfunctions affecting both upper and lower motor neurons in the motor cortex, brainstem, and spinal cord. Our study aimed to simultaneously screen for variants within nDNA encoded mitochondrial genes and mtDNA genomes to assess for specific variant enrichment in ALS compared to control tissues.

  Study EGAS50000000457

• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_5

  Amyotrophic Lateral Sclerosis (ALS) is a progressive disease with prevalent mitochondrial dysfunctions affecting both upper and lower motor neurons in the motor cortex, brainstem, and spinal cord. Our study aimed to simultaneously screen for variants within nDNA encoded mitochondrial genes and mtDNA genomes to assess for specific variant enrichment in ALS compared to control tissues.

  Study EGAS50000000458

• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis3

  Amyotrophic Lateral Sclerosis (ALS) is a progressive disease with prevalent mitochondrial dysfunctions affecting both upper and lower motor neurons in the motor cortex, brainstem, and spinal cord. Our study aimed to simultaneously screen for variants within nDNA encoded mitochondrial genes and mtDNA genomes to assess for specific variant enrichment in ALS compared to control tissues.

  Study EGAS50000000443

• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_6

  Amyotrophic Lateral Sclerosis (ALS) is a progressive disease with prevalent mitochondrial dysfunctions affecting both upper and lower motor neurons in the motor cortex, brainstem, and spinal cord. Our study aimed to simultaneously screen for variants within nDNA encoded mitochondrial genes and mtDNA genomes to assess for specific variant enrichment in ALS compared to control tissues

  Study EGAS50000000459