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View article: Low Dietary Folate Increases Developmental Delays in the Litters of Mthfr677TT Mice
Low Dietary Folate Increases Developmental Delays in the Litters of Mthfr677TT Mice Open
Background/Objectives: Low folate intake before and during pregnancy increases the risk of neural tube defects and other adverse outcomes. Gene variants such as MTHFR 677C>T (rs1801133) may increase risks associated with suboptimal folate …
View article: Folic Acid and Methyltetrahydrofolate Supplementation in the Mthfr677C>T Mouse Model with Hepatic Steatosis
Folic Acid and Methyltetrahydrofolate Supplementation in the Mthfr677C>T Mouse Model with Hepatic Steatosis Open
Background/Objectives: The MTHFR677C>T gene variant results in a thermolabile MTHFR enzyme associated with elevated plasma homocysteine in TT individuals. Health risks associated with the TT genotype may be modified by dietary and suppleme…
View article: Folate Deficiency and/or the Genetic Variant <i>Mthfr<sup>677C >T</sup></i> Can Drive Hepatic Fibrosis or Steatosis in Mice, in a Sex‐Specific Manner
Folate Deficiency and/or the Genetic Variant <i>Mthfr<sup>677C >T</sup></i> Can Drive Hepatic Fibrosis or Steatosis in Mice, in a Sex‐Specific Manner Open
Scope Disturbances in one‐carbon metabolism contribute to nonalcoholic fatty liver disease (NAFLD) which encompasses steatosis, steatohepatitis, fibrosis, and cirrhosis. The goal is to examine impact of folate deficiency and the Mthfr 677C…
View article: Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome
Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome Open
Synaptosomal-associated protein 29 ( SNAP29 ) encodes a member of the SNARE family of proteins implicated in numerous intracellular protein trafficking pathways. SNAP29 maps to the 22q11.2 region and is deleted in 90% of patients with 22q1…
View article: Loss of function mutation of mouse <i>Snap29</i> on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patients
Loss of function mutation of mouse <i>Snap29</i> on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patients Open
Synaptosomal-associated protein 29 ( SNAP29 ) is a member of the SNARE family of proteins involved in maintenance of various intracellular protein trafficking pathways. SNAP29 maps to the 22q11.2 region and is deleted in 90% of patients wi…
View article: The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families Open
Although the clinical diagnosis of all children was NCRNA with severe congenital fibrotic retinal detachments, the molecular diagnosis determined that the disease process was in fact a very severe form of FEVR in 10 families. Because sever…