Diego M. Jofré

ORCID: 0000-0003-3763-9580
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About
Contact & Profiles
Research Areas
  • Tracheal and airway disorders
  • Congenital heart defects research
  • Congenital Ear and Nasal Anomalies

Fundación Ciencias Exactas y Naturales
2021-2022

University of Buenos Aires
2021-2022

CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding protein-7 (CHD7) and characterized retarded growth malformations heart nervous system. Despite public health relevance of this disorder, relevant cellular pathways targets CHD7 that relate to disease pathology are still poorly understood. Here we report chd-7, nematode ortholog Chd7, required for dauer morphogenesis, lifespan determination, stress response, body size...

10.1073/pnas.2109508119 article EN cc-by-nc-nd Proceedings of the National Academy of Sciences 2022-04-08

ABSTRACT CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding protein7 (CHD7) and characterized retarded growth malformations heart nervous system. Despite public health relevance of this disorder, relevant targets CHD7 that relate to disease pathology are still poorly understood. Here we report chd-7 , nematode ortholog Chd7, required for dauer morphogenesis, lifespan determination, stress response. Consistent with our discoveries,...

10.1101/2021.03.26.437191 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2021-03-26
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