Detalhe da pesquisa
1.
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Cell
; 167(1): 187-202.e17, 2016 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27662089
2.
Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.
Am J Hum Genet
; 108(6): 1026-1039, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004138
3.
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Exp Dermatol
; 33(4): e15072, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576105
4.
Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin.
Br J Dermatol
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38739763
5.
Tofacitinib ameliorates skin inflammation in a case of severe autosomal recessive congenital ichthyosis.
Clin Exp Dermatol
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469681
6.
Abdominal pain accompanied by elevated serum inflammatory markers and biliary enzymes for diagnosing immune checkpoint inhibitor-induced sclerosing cholangitis.
Invest New Drugs
; 41(3): 512-521, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171720
7.
Functional preservation benefits of minimal surgery for extramammary Paget's disease.
Exp Dermatol
; 32(10): 1644-1650, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377183
8.
Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis.
Exp Dermatol
; 32(9): 1557-1562, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261383
9.
Clustering using unsupervised machine learning to stratify the risk of immune-related liver injury.
J Gastroenterol Hepatol
; 38(2): 251-258, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302734
10.
Retrospective Analysis of Neutrophil-to-Lymphocyte Ratio in Patients with Melanoma Who Received Ipilimumab Monotherapy or Ipilimumab in Combination with Nivolumab in Japan.
Biol Pharm Bull
; 46(3): 427-431, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36858571
11.
Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies.
J Lipid Res
; 63(12): 100308, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332686
12.
Clinical significance of anti-NOR90 antibodies in systemic sclerosis and idiopathic interstitial pneumonia.
Rheumatology (Oxford)
; 61(4): 1709-1716, 2022 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282441
13.
Anti-Zo antibodies in Japanese myositis patients detected by a newly developed ELISA.
Clin Exp Rheumatol
; 40(2): 219-223, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124571
14.
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
Int J Mol Sci
; 23(14)2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887135
15.
Low plasma fibrinogen levels are associated with poor prognosis in cutaneous angiosarcoma of the head and neck.
Cancer Sci
; 112(9): 3924-3927, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34252257
16.
Immune recognition of lysyl-tRNA synthetase and isoleucyl-tRNA synthetase by anti-OJ antibody-positive sera.
J Autoimmun
; 122: 102680, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120070
17.
[Pathogenic and Compensatory Mechanisms in Epidermis of Sphingomyelin Synthase 2-Deficient Mice].
Skin Pharmacol Physiol
; 34(5): 246-252, 2021.
Artigo
em Zh
| MEDLINE | ID: mdl-33915532
18.
Anti-thyroid antibodies and thyroid echo pattern at baseline as risk factors for thyroid dysfunction induced by anti-programmed cell death-1 antibodies: a prospective study.
Br J Cancer
; 122(6): 771-777, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32009131
19.
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Am J Hum Genet
; 100(2): 364-370, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28157540
20.
Multifaceted Analyses of Epidermal Serine Protease Activity in Patients with Atopic Dermatitis.
Int J Mol Sci
; 21(3)2020 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32019242