Concepedia

A Novel Mechanism of Inherited TBG Deficiency: Mutation in a Liver-Specific Enhancer

Alfonso Massimiliano Ferrara, Jiao Fu, Christopher D. Brown, April Peterson, Lars C. Moeller, Kathleen Wyne, Kevin P. White, Anna Pluzhnikov, Vassily Trubetskoy, Marcelo A. Nóbrega,

The Journal of Clinical Endocrinology & Metabolism · 2014 · 23 citations · 14 references

DOIFull text

Open access

Abstract

To our knowledge, the present study is the first report of an inherited endocrine disorder caused by a mutation in an enhancer region.

References

14

Genome engineering using the CRISPR-Cas9 system

F. Ann Ran, Patrick D. Hsu, Jason Wright et al. · Nature Protocols · 2013 · 11.4K citations · Full text

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Haplotype-based variant detection from short-read sequencing

Erik Garrison, Gábor Marth · arXiv (Cornell University) · 2012 · 4K citations · Full text

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Virus induction of human IFNβ gene expression requires the assembly of an enhanceosome

Dimitris Thanos, Tom Maniatis · Cell · 1995 · 1K citations · Full text

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Activating RNAs associate with Mediator to enhance chromatin architecture and transcription

Fan Lai, Matteo Cesaroni, Malte Beringer et al. · Nature · 2013 · 848 citations · Full text

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Integrative annotation of chromatin elements from ENCODE data

Michael M. Hoffman, Jason Ernst, Steven P. Wilder et al. · Nucleic Acids Research · 2012 · 601 citations · Full text

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