Associated Papers
Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD.
Honda M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?
Patelli C et al.
Prenatal Diagnosis, 2025
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H et al.
Clinical Genetics, 2024
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations.
Moghe A et al.
Molecular Genetics and Metabolism Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
Hasegawa K et al.
Jimd Reports, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.
Kim DH et al.
Journal of Biochemistry, 2013
Role of genetic testing in the management of patients with inherited porphyria and their families.
Whatley SD et al.
Annals of Clinical Biochemistry, 2013
Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.
Suo SB et al.
Journal of Proteome Research, 2013
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A et al.
Journal of Inherited Metabolic Disease, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.
Schmitt C et al.
Human Molecular Genetics, 2005
Structural basis of hereditary coproporphyria.
Lee DS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism.
Takeuchi H et al.
Blood, 2001
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
Lamoril J et al.
American Journal of Human Genetics, 2001
Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.
Lamoril J et al.
Blood, 1998
Review: molecular pathogenesis of hepatic acute porphyrias.
Grandchamp B et al.
Journal of Gastroenterology and Hepatology, 1996
Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.
Grandchamp B et al.
Journal of Bioenergetics and Biomembranes, 1995