Publications by authors named "Hugo Vega"

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ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega

PLoS Genet· February 2017

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Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega

PLoS Genet· February 2017

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Genetic variation and RNA binding proteins: tools and techniques to detect functional polymorphisms.
Rachel Soemedi, Hugo Vega, Judson M Belmont, Sohini Ramachandran, William G Fairbrother

Adv Exp Med Biol· December 2014

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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
David R Adams, Hongjie Yuan, Todd Holyoak, Katrina H Arajs, Parvin Hakimi, Hugo Vega

Mol Genet Metab· November 2014

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Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
Antonie D Kline, Anne L Calof, Cheri A Schaaf, Ian D Krantz, Soma Jyonouchi, Hugo Vega

Am J Med Genet A· June 2014

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Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
Mohammed A Sadat, Susan Moir, Tae-Wook Chun, Paolo Lusso, Gerardo Kaplan, Hugo Vega

N Engl J Med· April 2014

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Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Hugo Vega

Nucleic Acids Res· September 2010

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Hugo Vega

PLoS Biol· May 2009

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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Miriam Gordillo, Hugo Vega, Alison H Trainer, Fajian Hou, Norio Sakai

Hum Mol Genet· July 2008

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[Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype].
Ricardo Wilches, Hugo Vega, Olga Echeverri, Luis Alejandro Barrera

Biomedica· September 2006

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Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
Hugo Vega, Quinten Waisfisz, Miriam Gordillo, Norio Sakai, Itaru Yanagihara

Nat Genet· May 2005

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