Rima R. Rozen - Genetic Mutations

Author Information

Rima R. Rozen is a distinguished researcher affiliated with the Departments of Human Genetics and Pediatrics at McGill University, as well as the Research Institute of the McGill University Health Center in Montreal, Quebec, Canada. Her research primarily focuses on genetic and molecular mechanisms underlying various health conditions, with a strong emphasis on folate metabolism and its impact on development and disease.

Research Contributions

Rima R. Rozen has made significant contributions to the field of genetics, particularly in understanding the roles of folic acid and methylenetetrahydrofolate reductase (MTHFR) in health and disease. Her recent work has explored the effects of folic acid supplementation on gene expression and methyl metabolism in mice, with findings that highlight sex-specific outcomes. She has also investigated the consequences of MTHFR variants on cerebrovascular function and developmental delays. Her research not only advances our knowledge of genetic influences on health but also has potential implications for nutritional guidelines and therapeutic approaches.

Aliases

R Rozen, Rima R Rozen, R. Rozen, Rima R. Rozen, Rima Rozen

Publication and Citation Metrics

Metric	Value
Total Citation Count	20287
h-index	64
Total Paper Count	261

Publications:

Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Sex-Specific Gene Expression in Brain of Young Mice and Embryos

DOI: 10.3390/nu14051051

Year: 2022

Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-specific Placental Transcription Changes.

DOI: 10.1002/mnfr.202100197

Year: 2021

Shifting landscapes of human MTHFR missense-variant effects

DOI: 10.1016/j.ajhg.2021.05.009

Year: 2021

Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice

DOI: 10.3390/nu14010127

Year: 2021

The 677C>T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice

DOI: 10.1101/2021.12.16.472805

Year: 2021

High folic acid intake increases methylation-dependent expression of Lsr and dysregulates hepatic cholesterol homeostasis.

DOI: 10.1016/j.jnutbio.2020.108554

Year: 2020

A common risk variant in the MTHFR gene contributes to age‐related cerebrovascular dysfunction in VCID

DOI: 10.1002/alz.038657

Year: 2020

Moderate Folic Acid Supplementation in Pregnant Mice Results in Behavioral Alterations in Offspring with Sex-Specific Changes in Methyl Metabolism

DOI: 10.3390/nu12061716

Year: 2020

The structure and properties of methylenetetrahydrofolate reductasefrom Escherichia coli suggest how folate ameliorates humanhyperhomocysteinemia

DOI:

Year: 2019

Mild Methylenetetrahydrofolate Reductase Deficiency Alters Inflammatory and Lipid Pathways in Liver

DOI: 10.1002/mnfr.201801001

Year: 2019

Why is Data Analysis Important?

What Are Mutations?

What types of genetic mutations are associated with PAH exposure?

How is Sickle Cell Anemia Diagnosed?

How Are Genetic Diseases Diagnosed?

How Do Synonymous Mutations Occur?

What Is the Role of Genetics in Cognitive Development?

What are Mutant Crop Varieties?

What Types of Radiation Are Most Harmful?

What are Non-Coding Regions?

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