Associated Papers
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P et al.
Acta Neuropathologica, 2023
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category
Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.
Karyadi DM et al.
Oncotarget, 2017
27902461 (PubMed )
Supplement: oncotarget-08-1495-s003.xlsx › Sheet1
Functional characterization of the vitamin K2 biosynthetic enzyme UBIAD1.
Hirota Y et al.
Plos One, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
Nickerson ML et al.
Human Mutation, 2013
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
Nickerson ML et al.
Plos One, 2010
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
Weiss JS et al.
American Journal of Medical Genetics. Part A, 2008
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Orr A et al.
Plos One, 2007
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