E-LIB Suche - Ergebnisse für: Caldovic, Ljubica

1

Assessing the functional impact of ASL missense variants us..:

Tang, Michelle ; Cromie, Gareth ; Lo, Russell...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108199 , 2024

Link: https://doi.org/10.1016/..

2

Glutathione peroxidase 3 is a potential biomarker for konzo:

Bramble, Matthew S. ; Fourcassié, Victor ; Vashist, Neerja...
Nature Communications. 15 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

3

P007: PP4 criteria specifications for proximal urea cycle d..:

Simpson, Kara ; Mew, Nicholas Ah ; Caldovic, Ljubica...
Genetics in Medicine Open. 2 (2024) - p. 100884 , 2024

Link: https://doi.org/10.1016/..

4

Molecular regulation of enzymes in protein catabolism:

Caldovic, Ljubica ; Haskins, Nantaporn ; Ayyadurai, Roja...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108184 , 2024

Link: https://doi.org/10.1016/..

5

Applying phenotypic evidence to support the molecular diagn..:

Groopman, Emily ; Goldstein, Jenny ; Dickson, Alexa...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108165 , 2024

Link: https://doi.org/10.1016/..

6

Cystin is required for maintaining fibrocystin (FPC) levels..:

Zhang, Yiming J. ; Yang, Chaozhe ; Wang, Wei...
The FASEB Journal. 37 (2023) 7 - p. , 2023

Link: https://doi.org/10.1096/..

7

BIOMARKERS FOR BIOCHEMICAL, PATHOPHYSIOLOGICAL, AND NEUROLO..:

Caldovic, Ljubica ; Li, Tina ; Sonaimuthu, Parthasarathy...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107395 , 2023

Link: https://doi.org/10.1016/..

8

Differential regulation of MYC expression by PKHD1/Pkhd1 in..:

Harafuji, Naoe ; Yang, Chaozhe ; Wu, Maoqing...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

9

The functional impact of 1,570 individual amino acid substi..:

Lo, Russell S. ; Cromie, Gareth A. ; Tang, Michelle...
The American Journal of Human Genetics. 110 (2023) 5 - p. 863-879 , 2023

Link: https://doi.org/10.1016/..

10

CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES:

Simpson, Kara ; Mew, Nicholas Ah. ; Caldovic, Ljubica...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107488 , 2023

Link: https://doi.org/10.1016/..

11

Transcription factor Ap2b regulates the mouse autosomal rec..:

Wu, Maoqing ; Harafuji, Naoe ; O'Connor, Amber K...
Frontiers in Molecular Biosciences. 9 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

12

NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Argi..:

Owusu-Ansah, Melissa ; Guptan, Nikita ; Alindogan, Dylon..
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6754 , 2023

Link: https://doi.org/10.3390/..

13

Datamining approaches for examining the low prevalence of N..:

Caldovic, Ljubica ; Ahn, Julie J. ; Andricovic, Jacklyn...
Journal of Inherited Metabolic Disease. , 2023

Link: https://doi.org/10.1002/..

14

Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processin..:

Yang, Chaozhe ; Harafuji, Naoe ; Caldovic, Ljubica...
Journal of Molecular Medicine. 101 (2023) 9 - p. 1141-1151 , 2023

Link: https://doi.org/10.1007/..

15

Fifteen years of urea cycle disorders brain research: Looki..:

Sen, Kuntal ; Whitehead, Matthew ; Castillo Pinto, Carlos..
Analytical Biochemistry. 636 (2022) - p. 114343 , 2022

Link: https://doi.org/10.1016/..