Project description:This study involves characterization of four head and neck cancer cell lines -- NT8e, OT9, AW13516 and AW8507, established from Indian head and neck cancer patients, using SNP arrays, whole exome and whole transcriptome sequencing.
Project description:This study involves characterization of four head and neck cancer cell lines -- NT8e, OT9, AW13516 and AW8507, established from Indian head and neck cancer patients, using SNP arrays, whole exome and whole transcriptome sequencing.
Project description:This study involves characterization of four head and neck cancer cell lines -- NT8e, OT9, AW13516 and AW8507, established from Indian head and neck cancer patients, using SNP arrays, whole exome and whole transcriptome sequencing.
Project description:INSC94Y transgenic pigs serve as a valuable model for permanent neonatal diabetes mellitus. Through genetically engineered modifications in the insulin (INS) gene, this model presents with impaired insulin secretion, resulting elevated fasting blood-glucose levels (hyperglycemia) [1].One of the severe complications of diabetes mellitus are hypoglycemia-mediated morphological abnormalities in the retina, also described as diabetic retinopathy (DR). Adjacent to the retina lies the vitreous, a gelatinous, highly hydrated matrix, which is important for ocular function and retinal physiology. It contains variety of proteins and signaling molecules, which are useful for the characterization of the biological activity of the vitreous itself, and may help to elucidate molecular processes occurring in the retina, especially under pathophysiological conditions and in disease. To gain insight into the proteomic profile of porcine vitreous and detect possible differences relevant to DR pathogenesis, we used discovery proteomics for analysis of INSC94Y vitreous compared to wild-type controls. Reference: [1] Renner, S.; Braun-Reichhart, C.; Blutke, A.; Herbach, N.; Emrich, D.; Streckel, E.; Wunsch, A.; Kessler, B.; Kurome, M.; Bahr, A.; et al. Permanent neonatal diabetes in INS(C94Y) transgenic pigs. Diabetes 2013, 62, 1505-1511, doi:10.2337/db12-1065.
Project description:The study includes 14 patients with confirmed JMML and known somatic mutations (from exome data of paired tumoral and germline DNA). Bone marrow or peripheral blood mononucleated cells were injected in immundeficient mice to recapitulate the leukemia. Whole exome sequencing was performed in xenograft samples to control the persistance of patients' known mutations and look for new mutations acquired in xenograft sample.
Project description:In a patient with permanent neonatal syndromic diabetes clinically similar to cases with ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of ONECUT1. Through genetic, genomic and functional studies we identified a crucial regulatory region acting as an enhancer of ONECUT1 specifically during pancreatic development. This enhancer region contains a low-frequency variant showing strong association with type 2 diabetes and other glycemic traits, thus extending the contribution of this region to common forms of diabetes. Clinical relevance is provided by experimentally tailored therapy options for patients carrying ONECUT1 coding or regulatory mutations.
Project description:In a patient with permanent neonatal syndromic diabetes clinically similar to cases with ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of ONECUT1. Through genetic, genomic and functional studies we identified a crucial regulatory region acting as an enhancer of ONECUT1 specifically during pancreatic development. This enhancer region contains a low-frequency variant showing strong association with type 2 diabetes and other glycemic traits, thus extending the contribution of this region to common forms of diabetes. Clinical relevance is provided by experimentally tailored therapy options for patients carrying ONECUT1 coding or regulatory mutations.