Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly.

PubWeight™: 1.40‹?› | Rank: Top 5%

🔗 View Article (PMID 23223129)

Published in J Invest Dermatol on December 06, 2012

Authors

Cristina Bulai Livideanu, Sarah Ducamp, Laurence Lamant, Laurent Gouya, Odile B Rauzy, Jean C Deybach, Carle Paul, Hervé Puy, Marie C Marguery

Articles by these authors

Porphyrias. Lancet (2010) 2.76

The gene expression profile of nodal peripheral T-cell lymphoma demonstrates a molecular link between angioimmunoblastic T-cell lymphoma (AITL) and follicular helper T (TFH) cells. Blood (2007) 2.57

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50

ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: report of 6 cases. Blood (2003) 2.05

Vinblastine in children and adolescents with high-risk anaplastic large-cell lymphoma: results of the randomized ALCL99-vinblastine trial. J Clin Oncol (2010) 1.78

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood (2011) 1.68

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet (2008) 1.64

Anaplastic lymphoma kinase-positive diffuse large B-cell lymphoma: a rare clinicopathologic entity with poor prognosis. J Clin Oncol (2009) 1.64

Recurrent TET2 mutations in peripheral T-cell lymphomas correlate with TFH-like features and adverse clinical parameters. Blood (2012) 1.60

Treatment of mammary and extramammary Paget's skin disease with topical imiquimod. J Dermatolog Treat (2006) 1.44

Towards global consensus on outcome measures for atopic eczema research: results of the HOME II meeting. Allergy (2012) 1.41

Erythropoietic protoporphyria. Orphanet J Rare Dis (2009) 1.39

Differential effects of X-ALK fusion proteins on proliferation, transformation, and invasion properties of NIH3T3 cells. Oncogene (2004) 1.35

Chronic dermatomycoses of the foot as risk factors for acute bacterial cellulitis of the leg: a case-control study. Dermatology (2004) 1.33

Sequential regulation of ferroportin expression after erythrophagocytosis in murine macrophages: early mRNA induction by haem, followed by iron-dependent protein expression. Biochem J (2008) 1.31

Defects of filaggrin-like proteins in both lesional and nonlesional atopic skin. J Allergy Clin Immunol (2013) 1.30

Long-term management of atopic dermatitis in infants with topical pimecrolimus, a nonsteroid anti-inflammatory drug. J Allergy Clin Immunol (2002) 1.29

High endothelial venules (HEVs) in human melanoma lesions: Major gateways for tumor-infiltrating lymphocytes. Oncoimmunology (2012) 1.28

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis. Nat Genet (2012) 1.25

Efficacy and safety of pimecrolimus cream in the long-term management of atopic dermatitis in children. Pediatrics (2002) 1.22

Melanoma chemotherapy leads to the selection of ABCB5-expressing cells. PLoS One (2012) 1.21

Single-drug vinblastine as salvage treatment for refractory or relapsed anaplastic large-cell lymphoma: a report from the French Society of Pediatric Oncology. J Clin Oncol (2009) 1.20

Impact of the methotrexate administration dose on the need for intrathecal treatment in children and adolescents with anaplastic large-cell lymphoma: results of a randomized trial of the EICNHL Group. J Clin Oncol (2009) 1.20

Phase 3 Studies Comparing Brodalumab with Ustekinumab in Psoriasis. N Engl J Med (2015) 1.20

Long-term effectiveness of treatment with terbinafine vs itraconazole in onychomycosis: a 5-year blinded prospective follow-up study. Arch Dermatol (2002) 1.19

Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior. Nat Genet (2012) 1.15

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14

MiR-29a down-regulation in ALK-positive anaplastic large cell lymphomas contributes to apoptosis blockade through MCL-1 overexpression. Blood (2011) 1.14

Iron refractory iron deficiency anemia. Haematologica (2013) 1.13

Update on the epidermal differentiation complex. Front Biosci (Landmark Ed) (2012) 1.10

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet (2003) 1.10

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Hum Mutat (2011) 1.09

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet (2009) 1.09

Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest (2010) 1.08

Long-term outcome of adults with systemic anaplastic large-cell lymphoma treated within the Groupe d'Etude des Lymphomes de l'Adulte trials. J Clin Oncol (2012) 1.07

Dermatologic complications of anti-PD-1/PD-L1 immune checkpoint antibodies. Curr Opin Oncol (2016) 1.06

Hornerin is a component of the epidermal cornified cell envelopes. FASEB J (2011) 1.05

STAT3 mutations identified in human hematologic neoplasms induce myeloid malignancies in a mouse bone marrow transplantation model. Haematologica (2013) 1.04

Long-term treatment of atopic dermatitis with pimecrolimus cream 1% in infants does not interfere with the development of protective antibodies after vaccination. J Am Acad Dermatol (2005) 1.03

Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model. Gastroenterology (2011) 1.03

TPM3-ALK expression induces changes in cytoskeleton organisation and confers higher metastatic capacities than other ALK fusion proteins. Eur J Cancer (2007) 1.02

Genomic profiling reveals different genetic aberrations in systemic ALK-positive and ALK-negative anaplastic large cell lymphomas. Br J Haematol (2008) 1.01

Pruritus in cutaneous T-cell lymphomas: frequent, often severe and difficult to treat. Acta Derm Venereol (2010) 1.01

Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. Blood (2006) 0.99

Blastic plasmacytoid dendritic cell neoplasms: clinico-immunohistochemical correlations in a series of 91 patients. Am J Surg Pathol (2014) 0.99

ALK-positive anaplastic large cell lymphoma limited to the skin: clinical, histopathological and molecular analysis of 6 pediatric cases. A report from the ALCL99 study. Haematologica (2012) 0.99

The 3' region of the DRD2 gene is involved in genetic susceptibility to schizophrenia. Schizophr Res (2004) 0.98

HuR-mediated control of C/EBPbeta mRNA stability and translation in ALK-positive anaplastic large cell lymphomas. Mol Cancer Res (2011) 0.97

CD30-positive peripheral T-cell lymphomas share molecular and phenotypic features. Haematologica (2013) 0.96

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Hum Genet (2003) 0.94

SHP1 tyrosine phosphatase negatively regulates NPM-ALK tyrosine kinase signaling. Blood (2006) 0.94

Segmental and nonsegmental childhood vitiligo has distinct clinical characteristics: a prospective observational study. J Am Acad Dermatol (2010) 0.92

Photodistribution of blue-gray hyperpigmentation after amiodarone treatment: molecular characterization of amiodarone in the skin. Arch Dermatol (2008) 0.92

Ipilimumab in melanoma patients with brain metastasis: a retro-spective multicentre evaluation of thirty-eight patients. Acta Derm Venereol (2014) 0.91

Diagnostic accuracy of serum hepcidin for iron deficiency in critically ill patients with anemia. Intensive Care Med (2010) 0.91

Hepcidin regulates intrarenal iron handling at the distal nephron. Kidney Int (2013) 0.90

Deimination of human filaggrin-2 promotes its proteolysis by calpain 1. J Biol Chem (2011) 0.89

Long-term control of atopic dermatitis with pimecrolimus cream 1% in infants and young children: a two-year study. J Am Acad Dermatol (2005) 0.88

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP). Hum Mol Genet (2012) 0.87

Immunostaining of visceral leishmaniasis caused by Leishmania infantum using monoclonal antibody (19-11) to the Leishmania homologue of receptors for activated C-kinase. Am J Clin Pathol (2003) 0.87

Plasma N-terminal pro-brain natriuretic peptide and brain natriuretic peptide in assessment of acute dyspnea. Biomed Pharmacother (2005) 0.87

Human hereditary hepatic porphyrias. Clin Chim Acta (2002) 0.87

Small nucleolar RNA expression profiling identifies potential prognostic markers in peripheral T-cell lymphoma. Blood (2012) 0.87

A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria. Am J Physiol Gastrointest Liver Physiol (2005) 0.86

Proteomic analysis of anaplastic lymphoma cell lines: identification of potential tumour markers. Proteomics (2006) 0.86

A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes. Prog Neuropsychopharmacol Biol Psychiatry (2010) 0.86

Potential new indications of topical calcineurin inhibitors. Dermatology (2007) 0.86

Clonal cytophagic histiocytic panniculitis in children may be cured by cyclosporine A. Pediatrics (2013) 0.86

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity. Eur J Heart Fail (2012) 0.86

Quantification of Demodex folliculorum by PCR in rosacea and its relationship to skin innate immune activation. Exp Dermatol (2012) 0.85

ALK-positive anaplastic large cell lymphoma mimicking nodular sclerosis Hodgkin's lymphoma: report of 10 cases. Am J Surg Pathol (2006) 0.85

Prognostic factors of paraneoplastic pemphigus. Arch Dermatol (2012) 0.85

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. Hum Mol Genet (2005) 0.85

Double-positive CD4/CD8 mycosis fungoides: a rarely reported immunohistochemical profile. J Cutan Pathol (2013) 0.84

Photoletter to the editor: Blue nevus with satellitosis mimicking melanoma. Contribution of dermoscopy and reflectance confocal microscopy. J Dermatol Case Rep (2012) 0.84

Terbinafine in the treatment of Trichophyton tinea capitis: a randomized, double-blind, parallel-group, duration-finding study. Pediatrics (2002) 0.84

PNL2, a new monoclonal antibody directed against a fixative-resistant melanocyte antigen. Mod Pathol (2003) 0.83

An update on the safety and tolerability of pimecrolimus cream 1%: evidence from clinical trials and post-marketing surveillance. Dermatology (2007) 0.83

PHOX2B immunolabeling: a novel tool for the diagnosis of undifferentiated neuroblastomas among childhood small round blue-cell tumors. Am J Surg Pathol (2012) 0.82

KBA.62: a useful marker for primary and metastatic melanomas. Hum Pathol (2008) 0.82

Pharmacological treatment (biotherapy excluded) of peripheral psoriatic arthritis: development of recommendations for clinical practice based on data from the literature and experts opinion. Joint Bone Spine (2009) 0.82

High-resolution magnetic resonance imaging in study of the skin: normal patterns. Eur J Radiol (2010) 0.81

In vivo quantification of epidermis pigmentation and dermis papilla density with reflectance confocal microscopy: variations with age and skin phototype. Exp Dermatol (2012) 0.81

Gene expression profiling of human melanoma cell lines with distinct metastatic potential identifies new progression markers. Anticancer Res (2007) 0.81

Interferon alpha and pamidronate in osteoporosis with fracture secondary to mastocytosis. Am J Med (2011) 0.81

Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence. Am J Med Genet (2002) 0.80

ALK+ALCLs induce cutaneous, HMGB-1-dependent IL-8/CXCL8 production by keratinocytes through NF-κB activation. Blood (2012) 0.80

Anaplastic lymphoma kinase as a therapeutic target. Expert Opin Ther Targets (2012) 0.80

Effect of terbinafine on the pharmacokinetics and pharmacodynamics of desipramine in healthy volunteers identified as cytochrome P450 2D6 (CYP2D6) extensive metabolizers. J Clin Pharmacol (2002) 0.80

ALK+ histiocytosis: a novel type of systemic histiocytic proliferative disorder of early infancy. Blood (2008) 0.79