Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.
Merati M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 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
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
Biorxiv : the Preprint Server for Biology, 2023
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Bustad HJ et al.
International Journal of Molecular Sciences, 2021
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Ahmadnia N et al.
Iranian Journal of Child Neurology, 2021
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
Acute Intermittent Porphyria in children: A case report and review of the literature.
Balwani M et al.
Molecular Genetics and Metabolism, 2016
Acute intermittent porphyria in Argentina: an update.
Cerbino GN et al.
Biomed Research International, 2015
Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation.
Douderova D et al.
Blood Cells, Molecules & Diseases, 2010
Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.
de Rooij FW et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Ulbrichova D et al.
Human Genetics, 2008
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.
Schneider-Yin X et al.
Molecular Genetics and Metabolism, 2008
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Hrdinka M et al.
Physiological Research, 2006
Gene-environmental interactions: Lessons from porphyria.
Sassa S
Environmental Health and Preventive Medicine, 2003
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R et al.
Clinical Chemistry, 2002
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Floderus Y et al.
Clinical Genetics, 2002
Diagnosis of latent acute intermittent porphyria by genetic analysis.
De Siervi A et al.
Annals of Clinical Biochemistry, 2001
Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Mustajoki S et al.
Molecular Medicine (cambridge, Mass.), 2000
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
De Siervi A et al.
American Journal of Medical Genetics, 1999
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
Lundin G et al.
Human Genetics, 1997
Porphobilinogen deaminase gene structure and molecular defects.
Deybach JC et al.
Journal of Bioenergetics and Biomembranes, 1995
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
Chen CH et al.
The Journal of Clinical Investigation, 1994
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
Brownlie PD et al.
Protein Science : a Publication of the Protein Society, 1994
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Astrin KH et al.
Human Mutation, 1994