scholarly journals Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

2021 ◽  
Author(s):  
Limor Kalfon ◽  
Meirav Baydany ◽  
Nadra Samra ◽  
Nawaf Heno ◽  
Zvi Segal ◽  
...  
Keyword(s):  
Genetic Variants

Genetic Variation: Impact on Folate (and Choline) Bioefficacy

2010 ◽  
Vol 80 (45) ◽  
pp. 319-329 ◽  
Author(s):  
Allyson A. West ◽  
Marie A. Caudill
Keyword(s):  
Carbon Metabolism ◽  
Genetic Variants ◽  
Plasma Homocysteine ◽  
Water Soluble ◽  
Gene Interactions ◽  
Dietary Folate ◽  
Methyl Donors ◽  
Common Genetic Variants ◽  
One Carbon Metabolism ◽  
The Impact

Folate and choline are water-soluble micronutrients that serve as methyl donors in the conversion of homocysteine to methionine. Inadequacy of these nutrients can disturb one-carbon metabolism as evidenced by alterations in circulating folate and/or plasma homocysteine. Among common genetic variants that reside in genes regulating folate absorptive and metabolic processes, homozygosity for the MTHFR 677C > T variant has consistently been shown to have robust effects on status markers. This paper will review the impact of genetic variants in folate-metabolizing genes on folate and choline bioefficacy. Nutrient-gene and gene-gene interactions will be considered along with the need to account for these genetic variants when updating dietary folate and choline recommendations.

Genetic Variants of TBX5 in Holt-Oram Syndrome Patients

2016 ◽  
Vol 64 (S 01) ◽  
Author(s):  
M. Dreßen ◽  
H. Lahm ◽  
K. Adamzcyk-Wolf ◽  
J. Cleuziou ◽  
J. Kasnar-Samprec ◽  
...  
Keyword(s):  
Genetic Variants

Genetic Variants of Coagulation Factors

1973 ◽  
Vol 30 (01) ◽  
pp. 001-001
Author(s):  
Rosemary Biggs
Keyword(s):  
Genetic Variants ◽  
Coagulation Factors
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