Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients

Autor: Fabian Fay, Melina Klurfan, Cristian Oscar Rohr, Martin P. Vazquez, Fernanda Madeira, Guadalupe Mejico, Maria Florencia Gosso, Bianca Brun

Publikováno v: Human Genome Variation, Vol 5, Iss 1, Pp 1-5 (2018)
Human Genome Variation

Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d72782f4ab7d73814fbeac672e83721
http://link.springer.com/article/10.1038/s41439-018-0021-y

Small RNA-seq reveals novel regulatory components for apomixis in Paspalum notatum

Autor: Juan Pablo A. Ortiz, Mauricio Javier Grisolía, Lorena Adelina Siena, Maricel Podio, Celeste Antonela Azzaro, Carolina Colono, Cristian Oscar Rohr, Olivier Leblanc, Silvina Claudia Pessino

Publikováno v: BMC Genomics
BMC Genomics, Vol 20, Iss 1, Pp 1-17 (2019)

Background Apomixis is considered an evolutionary deviation of the sexual reproductive pathway leading to the generation of clonal maternal progenies by seeds. Recent evidence from model and non-model species suggested that this trait could be modula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea62753286510c4995392b37400a25e
http://www.documentation.ird.fr/hor/fdi:010076112

A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis

Autor: Cristian Oscar Rohr, Martin Enrique Garaycoechea, Hernán Dopazo, Tomás Fernández Gianotti, Carlos José Pirola, Julio San Martino, Gustavo Osvaldo Castaño, Carla Gazzi, Diego Martin Flichman, Silvia Cristina Sookoian

Publikováno v: Hepatology Communications
Hepatology Communications, Vol 2, Iss 9, Pp 1030-1036 (2018)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase regulator (GCKR) gene in an adult patient with nonalcoholic fatty liver disease (NAFLD), morbid obesity, and type 2 diabetes; this patient developed a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07afcd1436539e22cec566851463d0e5
https://pubmed.ncbi.nlm.nih.gov/30202818

INSECT 2.0: a web-server for genome-wide cis-regulatory modules prediction

Autor: Daniel Koile, R. Gonzalo Parra, Cristian Oscar Rohr, Carolina Perez-Castro, Patricio Yankilevich

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

INSECT is a user-friendly web server to predict the occurrence of Cis-Regulatory Modules (CRMs), which control gene expression. Here, we present a new release of INSECT which includes several new features, such as whole genome analysis, nucleosome oc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6096bbda2732cef2909723ba0d68d72
https://doi.org/10.1093/bioinformatics/btv726

Epigenetic Modifications in the Biology of Nonalcoholic Fatty Liver Disease: The Role of DNA-Hydroxymethylation and TET Proteins

Autor: Silvia Cristina Sookoian, Julio San Martino, Cristian Oscar Rohr, Romina Scian, Tomás Fernández Gianotti, Gustavo Osvaldo Castaño, Hernán Dopazo, Carlos José Pirola

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

The 5-Hydroxymethylcytosine (5-hmC) is an epigenetic modification whose role in the pathogenesis of metabolic-related complex diseases remains unexplored; 5-hmC appears to be prevalent in the mitochondrial genome. The Ten-Eleven-Translocation (TET) f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e101b5dea85b14f4024217239024b35
https://journals.lww.com/md-journal/Fulltext/2015/09020/Epigenetic_Modifications_in_the_Biology_of.24.aspx