26 results on '"Prasad, Megana"'
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2. Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement
3. Angelman syndrome patient neuron screen identifies a potent and selective clinical ASO targeting UBE3A-ATS with long lasting effect in cynomolgus monkey
4. Alzheimer’s Risk Gene TREM2 Determines Functional Properties of New Type of Human iPSC-Derived Microglia
5. Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism
6. Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta
7. Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling
8. Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
9. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
10. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
11. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
12. Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
13. A Polymorphic 3’UTR Element in ATP1B1 Regulates Alternative Polyadenylation and Is Associated with Blood Pressure
14. Abstract 151: A Polymorphic T-Rich Element in ATP1B1 Is Associated with Blood Pressure and Regulates Alternative Polyadenylation
15. Close association of olfactory placode precursors and cranial neural crest cells does not predestine cell mixing
16. SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter
17. SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer
18. Faculty Opinions recommendation of A unique H3K4me2 profile marks tissue-specific gene regulation.
19. OCT3/4 regulates transcription of histone deacetylase 4 (Hdac4) in mouse embryonic stem cells
20. Faculty Opinions recommendation of Nucleosome dynamics define transcriptional enhancers.
21. Faculty Opinions recommendation of Transcription factors mediate long-range enhancer-promoter interactions.
22. Peroxisome-proliferator-activated receptor-binding protein (PBP) is essential for the growth of active Notch4-immortalized mammary epithelial cells by activating SOX10 expression
23. Faculty Opinions recommendation of Dissecting transcription regulatory pathways through a new bacterial one-hybrid reporter system.
24. Faculty Opinions recommendation of Local DNA topography correlates with functional noncoding regions of the human genome.
25. Faculty Opinions recommendation of ChIP-seq accurately predicts tissue-specific activity of enhancers.
26. Pluripotency Redux — Advances in Stem-Cell Research
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