These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
116 related articles for article (PubMed ID: 33067036)
1. Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations. Nohara T; Ohno Y; Kihara A J Dermatol Sci; 2021 Jan; 101(1):69-71. PubMed ID: 33067036 [No Abstract] [Full Text] [Related]
2. Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation. Ohno Y; Nakamichi S; Ohkuni A; Kamiyama N; Naoe A; Tsujimura H; Yokose U; Sugiura K; Ishikawa J; Akiyama M; Kihara A Proc Natl Acad Sci U S A; 2015 Jun; 112(25):7707-12. PubMed ID: 26056268 [TBL] [Abstract][Full Text] [Related]
4. [Elucidation of the Synthetic Mechanism of Acylceramide, an Essential Lipid for Skin Barrier Function]. Ohno Y Yakugaku Zasshi; 2017; 137(10):1201-1208. PubMed ID: 28966260 [TBL] [Abstract][Full Text] [Related]
6. Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1. Nohara T; Ohno Y; Kihara A J Dermatol Sci; 2022 Aug; 107(2):89-94. PubMed ID: 35970721 [TBL] [Abstract][Full Text] [Related]
7. Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. Sugiura K; Takeichi T; Tanahashi K; Ito Y; Kosho T; Saida K; Uhara H; Okuyama R; Akiyama M J Dermatol Sci; 2013 Nov; 72(2):193-5. PubMed ID: 23871423 [No Abstract] [Full Text] [Related]
8. Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5. Ohno Y; Nara A; Nakamichi S; Kihara A J Dermatol Sci; 2018 Dec; 92(3):245-253. PubMed ID: 30527376 [TBL] [Abstract][Full Text] [Related]
9. Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production. Miyamoto M; Itoh N; Sawai M; Sassa T; Kihara A J Invest Dermatol; 2020 Feb; 140(2):319-326.e4. PubMed ID: 31356814 [TBL] [Abstract][Full Text] [Related]
10. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. Sugiura K; Akiyama M J Dermatol Sci; 2015 Jul; 79(1):4-9. PubMed ID: 25982146 [TBL] [Abstract][Full Text] [Related]
11. Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. Gruber R; Rainer G; Weiss A; Udvardi A; Thiele H; Eckl KM; Schupart R; Nürnberg P; Zschocke J; Schmuth M; Volc-Platzer B; Hennies HC Br J Dermatol; 2017 Apr; 176(4):1068-1073. PubMed ID: 27449533 [TBL] [Abstract][Full Text] [Related]
12. Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. Vanni N; Fruscione F; Ferlazzo E; Striano P; Robbiano A; Traverso M; Sander T; Falace A; Gazzerro E; Bramanti P; Bielawski J; Fassio A; Minetti C; Genton P; Zara F Ann Neurol; 2014 Aug; 76(2):206-12. PubMed ID: 24782409 [TBL] [Abstract][Full Text] [Related]
13. Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations. Yamamoto M; Sassa T; Kyono Y; Uemura H; Kugo M; Hayashi H; Imai Y; Yamanishi K; Kihara A J Dermatol; 2021 Apr; 48(4):447-456. PubMed ID: 33492757 [TBL] [Abstract][Full Text] [Related]
14. Ceramide center stage in progressive myoclonus epilepsies. Boustany RM Ann Neurol; 2014 Aug; 76(2):162-4. PubMed ID: 25041902 [No Abstract] [Full Text] [Related]
15. Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies. Takeichi T; Ohno Y; Tanahashi K; Ito Y; Shiraishi K; Utsunomiya R; Yoshida S; Ikeda K; Nomura H; Morizane S; Sayama K; Ogi T; Muro Y; Kihara A; Akiyama M J Lipid Res; 2022 Dec; 63(12):100308. PubMed ID: 36332686 [TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations. Swink SM; Hurley M; Haynes D; Larijani M Pediatr Dermatol; 2024; 41(3):546-548. PubMed ID: 38196085 [TBL] [Abstract][Full Text] [Related]
17. CYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis. Ishida Y; Saeki K; Ueda M; Lee-Okada HC; Doi H; Kambe N; Nakajima S; Yokomizo T; Kabashima K J Eur Acad Dermatol Venereol; 2024 Jun; 38(6):e493-e495. PubMed ID: 38059382 [No Abstract] [Full Text] [Related]
18. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. Esperón-Moldes U; Ginarte-Val M; Rodríguez-Pazos L; Fachal L; Martín-Santiago A; Vicente A; Jiménez-Gallo D; Guillén-Navarro E; Sampol LM; González-Enseñat MA; Vega A PLoS One; 2020; 15(2):e0229025. PubMed ID: 32069299 [TBL] [Abstract][Full Text] [Related]
19. Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis. Palamar M; Onay H; Ertam I; Ates EA; Dereli T; Ozkinay F; Yagci A Ophthalmic Genet; 2015; 36(3):229-33. PubMed ID: 24397709 [TBL] [Abstract][Full Text] [Related]
20. Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. Noguera-Morel L; Feito-Rodríguez M; Maldonado-Cid P; García-Miñáur S; Kamsteeg EJ; González-Sarmiento R; De Lucas-Laguna R; Hernández-Martín A; Torrelo A Pediatr Dermatol; 2016; 33(2):e48-51. PubMed ID: 26646773 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]