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Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes

Molecular genetics and metabolism, 2019-11, Vol.128 (3), p.320-331

2019

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Non-transcriptional control of DNA replication by c-Myc

Nature, 2007-07, Vol.448 (7152), p.445-451

2007

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RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

Proceedings of the National Academy of Sciences - PNAS, 2014-05, Vol.111 (21), p.7777-7782

2014

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VEGF activates divergent intracellular signaling components to regulate retinal progenitor cell proliferation and neuronal differentiation

Development (Cambridge), 2006-06, Vol.133 (11), p.2201-2210

2006

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BRAFV600E negatively regulates the AKT pathway in melanoma cell lines

PloS one, 2012-08, Vol.7 (8), p.e42598

2012

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Acute Intermittent Porphyria in children: A case report and review of the literature

Molecular genetics and metabolism, 2016-12, Vol.119 (4), p.295-299

2016

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Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance

Journal of human genetics, 2015-11, Vol.60 (11), p.717-722

2015

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Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients

Journal of human genetics, 2018-03, Vol.63 (3), p.257-261

2018

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Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017

Journal of medical genetics, 2018-04, Vol.55 (4), p.261-268

2018

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

Human mutation, 2016-11, Vol.37 (11), p.1215-1222

2016

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Precision medicine for Fabry disease: Benign and like-benign missense mutations

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S30-S30

2018

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Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP

Proceedings of the National Academy of Sciences - PNAS, 2018-04, Vol.115 (17), p.E4071-E4080

2018

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Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations

Molecular genetics and metabolism, 2019-11, Vol.128 (3), p.358-362

2019

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Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP

Molecular genetics and metabolism, 2019-11, Vol.128 (3), p.382-390

2019

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Author Correction: Non-transcriptional control of DNA replication by c-Myc

Nature (London), 2023-07, Vol.619 (7969), p.E39-E39

2023

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Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations

Molecular genetics and metabolism, 2019-11, Vol.128 (3), p.363-366

2019

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Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations

Molecular genetics and metabolism, 2019-11, Vol.128 (3), p.352-357

2019

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Characterization of patients with BRCA mutated ovarian cancer who are eligible versus not eligible for PARP inhibitor maintenance therapy: exploratory analysis of the VELIA study

Gynecologic oncology, 2021-08, Vol.162, p.S106-S107

2021

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Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

Human molecular genetics, 2019-06, Vol.28 (11), p.1755-1767

2019

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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

Journal of medical genetics, 2017-09, Vol.54 (9), p.585-590

2017

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Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.186-194

2019

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Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

Molecular medicine (Cambridge, Mass.), 2015-06, Vol.21 (1), p.487-495

2015

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease: HUMAN MUTATION

Human mutation, 2016-11, Vol.37 (11), p.1215-1222

2016

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Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

Journal of inherited metabolic disease, 2018-03, p.1-9

2018

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Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes

Circulation. Cardiovascular genetics, 2017-08, Vol.10 (4)

2017

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Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes

Non-transcriptional control of DNA replication by c-Myc

RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

VEGF activates divergent intracellular signaling components to regulate retinal progenitor cell proliferation and neuronal differentiation

BRAFV600E negatively regulates the AKT pathway in melanoma cell lines

Acute Intermittent Porphyria in children: A case report and review of the literature

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

Precision medicine for Fabry disease: Benign and like-benign missense mutations

Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations

Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP

Author Correction: Non-transcriptional control of DNA replication by c-Myc

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations

Characterization of patients with BRCA mutated ovarian cancer who are eligible versus not eligible for PARP inhibitor maintenance therapy: exploratory analysis of the VELIA study

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease: HUMAN MUTATION

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes

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