Case of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations.

PubWeight™: 0.77‹?›

🔗 View Article (PMID 26072672)

Published in J Dermatol on June 13, 2015

Authors

Satoko Minakawa1, Takahide Kaneko1, Hironori Niizeki2, Hiroki Mizukami3, Yoko Saito4, Takeshi Nigawara5, Rie Kurose6, Kazuhiko Nakabayashi7, Kenji Kabashima8, Daisuke Sawamura1

Author Affiliations

1: Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
2: Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
3: Department of Pathology and Molecular Medicine, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
4: Department of Radiological Life Sciences, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
5: Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
6: Department of Orthopaedic Surgery, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
7: Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
8: Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Articles by these authors

Natural killer T cells are essential for the development of contact hypersensitivity in BALB/c mice. J Invest Dermatol (2014) 2.07

Perivascular leukocyte clusters are essential for efficient activation of effector T cells in the skin. Nat Immunol (2014) 1.66

The Asian atopic dermatitis phenotype combines features of atopic dermatitis and psoriasis with increased TH17 polarization. J Allergy Clin Immunol (2015) 1.51

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertil Steril (2014) 1.43

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype. Eur J Hum Genet (2014) 1.11

Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet (2016) 1.00

IL-17A as an inducer for Th2 immune responses in murine atopic dermatitis models. J Invest Dermatol (2014) 0.97

Involvement of oxidative stress-induced DNA damage, endoplasmic reticulum stress, and autophagy deficits in the decline of β-cell mass in Japanese type 2 diabetic patients. Diabetes Care (2014) 0.95

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting. PLoS Genet (2015) 0.91

Targeted DNA demethylation in vivo using dCas9-peptide repeat and scFv-TET1 catalytic domain fusions. Nat Biotechnol (2016) 0.86

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum Mutat (2016) 0.84

Methylcobalamin effects on diabetic neuropathy and nerve protein kinase C in rats. Eur J Clin Invest (2010) 0.84

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. Genet Med (2016) 0.82

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. Genet Med (2014) 0.82

Intravital multiphoton imaging of cutaneous immune responses. J Invest Dermatol (2014) 0.81

Discoid lupus erythematosus with dystrophic calcinosis cutis. JAAD Case Rep (2015) 0.81

Generation of Helios reporter mice and an evaluation of the suppressive capacity of Helios(+) regulatory T cells in vitro. Exp Dermatol (2015) 0.80

Implication of aortic calcification on persistent hypertension after laparoscopic adrenalectomy in patients with primary aldosteronism. Int J Urol (2016) 0.80

Tumour hypoxia promotes melanoma growth and metastasis via High Mobility Group Box-1 and M2-like macrophages. Sci Rep (2016) 0.79

Identification of novel kinase fusion transcripts in paediatric B cell precursor acute lymphoblastic leukaemia with IKZF1 deletion. Br J Haematol (2015) 0.79

Repeated fecal microbiota transplantation in a child with ulcerative colitis. Pediatr Int (2016) 0.78

Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome. J Invest Dermatol (2013) 0.78

TNF-α as a useful predictor of human herpesvirus-6 reactivation and indicator of the disease process in drug-induced hypersensitivity syndrome (DIHS)/drug reaction with eosinophilia and systemic symptoms (DRESS). J Dermatol Sci (2014) 0.78

Compilation of copy number variants identified in phenotypically normal and parous Japanese women. J Hum Genet (2014) 0.77

A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma. Endocr J (2008) 0.77

A novel deletion mutation of the ATP2C1 gene in a family with Hailey-Hailey disease. Eur J Dermatol (2016) 0.76

Proposal of inducible skin-associated lymphoid tissue (iSALT). Exp Dermatol (2015) 0.76

The effects of dipeptidyl-peptidase-IV inhibitor, vildagliptin, on the exocrine pancreas in spontaneously diabetic Goto-Kakizaki rats. Pancreas (2013) 0.76

Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting. PLoS Genet (2016) 0.76

Neutrophils Self-Regulate Immune Complex-Mediated Cutaneous Inflammation through CXCL2. J Invest Dermatol (2016) 0.76

Clinical Practice Guidelines for the Management of Atopic Dermatitis 2016. J Dermatol (2016) 0.75

A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes. Sci Rep (2014) 0.75

Response to Lee and Park. J Invest Dermatol (2015) 0.75

Increasing Comorbidities Suggest that Atopic Dermatitis Is a Systemic Disorder. J Invest Dermatol (2016) 0.75

Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. J Diabetes Investig (2016) 0.75

Calcinosis cutis long after rhinoplasty with silicone. Case Rep Dermatol (2014) 0.75

Antifibrotic effect of pirfenidone in a mouse model of human nonalcoholic steatohepatitis. Sci Rep (2017) 0.75

DNA methyltransferase inhibitor zebularine induces human cholangiocarcinoma cell death through alteration of DNA methylation status. PLoS One (2015) 0.75

B-cell malignant lymphoma presenting as otitis media and mastoiditis associated with sinus thrombosis. Case Rep Neurol (2014) 0.75

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. J Dermatol (2015) 0.75

Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face. Case Rep Dermatol (2015) 0.75

A plaque-type solitary reticulohistiocytoma in a two-year-old boy. Case Rep Dermatol (2015) 0.75

Elderly-Onset Generalized Pustular Psoriasis without a Previous History of Psoriasis Vulgaris. Case Rep Dermatol (2015) 0.75

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? J Hum Genet (2016) 0.75

Diaminodiphenyl Sulfone-Induced Hemolytic Anemia and Alopecia in a Case of Linear IgA Bullous Dermatosis. Case Rep Dermatol (2015) 0.75

Phospholipase Cδ1 regulates p38 MAPK activity and skin barrier integrity. Cell Death Differ (2017) 0.75

Pathological characterization of pachydermia in pachydermoperiostosis. J Dermatol (2015) 0.75

Involvement of prostaglandin E2 in the first Japanese case of pachydermoperiostosis with HPGD mutation and recalcitrant leg ulcer. J Dermatol Sci (2015) 0.75

Linking air pollution to atopic dermatitis. Nat Immunol (2016) 0.75

Infiltration of mast cells in pachydermia of pachydermoperiostosis. J Dermatol (2017) 0.75

CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis. J Dermatol (2015) 0.75

Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. J Dermatol Sci (2015) 0.75

Lipid mediators in allergy: Link between human and animal models. Allergol Int (2014) 0.75

Juvenile temporal arteritis with eosinophilia associated with systemic sclerosis. J Dermatol (2016) 0.75

Erythema With Nonscarring, Tense Blister Formation Without Circulating Anti-BP180 Antibodies. JAMA Dermatol (2017) 0.75

The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants. Gene (2016) 0.75

CCR4 and CCR5 expression in a case of subcutaneous panniculitis-like T-cell lymphoma. Eur J Dermatol (2017) 0.75

Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. J Dermatol (2017) 0.75

Pemphigoid gestationis with prepartum flare. J Dermatol (2014) 0.75

Successful epithelialization of perianal infantile hemangioma, presenting as intractable ulcers, with application of protective colostomy powder. J Dermatol (2017) 0.75

Maculopapular rash during a nadir period in a patient with acute myeloid leukaemia. Eur J Dermatol (2017) 0.75

Acantholytic dyskeratotic acanthoma: a possible skin adverse event of vemurafenib treatment. J Eur Acad Dermatol Venereol (2017) 0.75

Three cases of facial erythema with dryness and pruritus in psoriasis patients during treatment with IL-17 inhibitors. J Eur Acad Dermatol Venereol (2017) 0.75

Total cell necrosis of metastatic malignant melanoma at the regional lymph node in a patient treatment with nivolumab. J Dermatol (2017) 0.75

Oral lichen planus associated with candidiasis during secukinumab treatment. J Dermatol (2016) 0.75

Angiomatoid fibrous histiocytoma of the scalp mimicking cutaneous angiosarcoma in incisional biopsy containing CD31-positive histiocytes: A potential histopathological pitfall. J Dermatol (2017) 0.75

Trichoscopic Findings of Erosive Pustular Dermatosis of the Scalp Associated with Gefitinib. Case Rep Dermatol (2017) 0.75

Basal cell carcinoma arising within port-wine stains with no preceding radiotherapy. J Dermatol (2015) 0.75

Psoriasis Area and Severity Index is closely related to serum C-reactive protein level and neutrophil to lymphocyte ratio in Japanese patients. J Dermatol (2017) 0.75

Case of pityriasis rubra pilaris with annular pattern as an early manifestation. J Dermatol (2016) 0.75

Eosinophilic pustular folliculitis: Trends in therapeutic options. J Dermatol (2016) 0.75

Complete type of pachydermoperiostosis with a novel mutation c.510G>A of the SLCO2A1 gene. J Dermatol (2016) 0.75

Acidification of stratum corneum prevents the progression from atopic dermatitis to respiratory allergy. Exp Dermatol (2016) 0.75

Delayed-onset heat intolerance in a Japanese patient with X-linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes. J Dermatol (2017) 0.75

Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family. J Dermatol (2017) 0.75

Development of in vivo imaging. Allergol Int (2016) 0.75

Eosinophilic pustular folliculitis: A proposal of diagnostic and therapeutic algorithms. J Dermatol (2016) 0.75

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. J Dermatol (2017) 0.75

Exacerbation of depression in a psoriatic arthritis patient possibly induced by secukinumab. Eur J Dermatol (2016) 0.75

Case of diffuse panbronchiolitis developed in a patient with epidermodysplasia verruciformis. J Dermatol (2017) 0.75

Decrease of serum IL-32 level in patients with atopic dermatitis after cyclosporine treatment. J Eur Acad Dermatol Venereol (2017) 0.75

Rapid regression of metastatic brain tumours in a melanoma patient after dabrafenib/trametinib therapy. Eur J Dermatol (2017) 0.75

Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty. J Cell Mol Med (2017) 0.75

Retinoic acid-inducible gene-I-like receptor (RLR)-mediated antiviral innate immune responses in the lower respiratory tract: Roles of TRAF3 and TRAF5. Biochem Biophys Res Commun (2015) 0.75

Perifollicular elastolysis associated with pseudofolliculitis of Behçet's disease. J Dermatol (2015) 0.75

Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years. J Dermatol (2017) 0.75

First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24. J Dermatol Sci (2016) 0.75

Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. J Invest Dermatol (2016) 0.75

Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation. J Dermatol Sci (2015) 0.75

Eosinophilic pustular folliculitis: A published work-based comprehensive analysis of therapeutic responsiveness. J Dermatol (2016) 0.75

Drastic effect on giant lung metastatic melanoma by sequential administration of nivolumab with ipilimumab/radiation combination therapy. J Dermatol (2017) 0.75

Mycosis fungoides bullosa associated with bullous pemphigoid. Int J Dermatol (2015) 0.75

Successful treatment of low-dose methotrexate in combination with systemic steroids for juvenile multiple and symmetrical circumscribed morphea. J Dermatol (2017) 0.75