Associated Papers
Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.
Møller LB et al.
Frontiers in Molecular Neuroscience, 2021
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
33133066 (PubMed )
Supplement: Table_1.xlsx › Random
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.
Beyens A et al.
Genes, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Increased frequency of congenital heart defects in Menkes disease.
Hicks JD et al.
Clinical Dysmorphology, 2012
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
Vonk WI et al.
Cellular and Molecular Life Sciences : Cmls, 2012
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Møller LB et al.
Biochimie, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
de Bie P et al.
Journal of Medical Genetics, 2007
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
Donsante A et al.
Journal of Medical Genetics, 2007
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
Dagenais SL et al.
American Journal of Human Genetics, 2001
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
Vockley J et al.
American Journal of Human Genetics, 2000
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