| Title : The First Reported Japanese Case of PNPLA1-Nonsyndromic Epidermal Differentiation Disorder (PNPLA1-nEDD) Associated With an Unreported 92-Base-Pair Duplication Variant - Kato_2025_Exp.Dermatol_34_e70130 |
| Author(s) : Kato S , Takeichi T , Jojima K , Kato M , Omi M , Tanahashi K , Otsuka A , Muro Y , Kihara A , Akiyama M |
| Ref : Exp Dermatol , 34 :e70130 , 2025 |
| Abstract : |
| PubMedSearch : Kato_2025_Exp.Dermatol_34_e70130 |
| PubMedID: 40545863 |
| Title : The First Reported Japanese Case of PNPLA1-Nonsyndromic Epidermal Differentiation Disorder (PNPLA1-nEDD) Associated With an Unreported 92-Base-Pair Duplication Variant - Kato_2025_Exp.Dermatol_34_e70130 |
| Author(s) : Kato S , Takeichi T , Jojima K , Kato M , Omi M , Tanahashi K , Otsuka A , Muro Y , Kihara A , Akiyama M |
| Ref : Exp Dermatol , 34 :e70130 , 2025 |
| Abstract : |
| PubMedSearch : Kato_2025_Exp.Dermatol_34_e70130 |
| PubMedID: 40545863 |
| Title : The First Reported Japanese Case of PNPLA1-Nonsyndromic Epidermal Differentiation Disorder (PNPLA1-nEDD) Associated With an Unreported 92-Base-Pair Duplication Variant - Kato_2025_Exp.Dermatol_34_e70130 |
| Author(s) : Kato S , Takeichi T , Jojima K , Kato M , Omi M , Tanahashi K , Otsuka A , Muro Y , Kihara A , Akiyama M |
| Ref : Exp Dermatol , 34 :e70130 , 2025 |
| Abstract : |
| PubMedSearch : Kato_2025_Exp.Dermatol_34_e70130 |
| PubMedID: 40545863 |
| Title : Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed omega-O-acylceramide production by ABHD5 - Ohno_2018_J.Dermatol.Sci_92_245 |
| Author(s) : Ohno Y , Nara A , Nakamichi S , Kihara A |
| Ref : J Dermatol Sci , 92 :245 , 2018 |
| Abstract : |
| PubMedSearch : Ohno_2018_J.Dermatol.Sci_92_245 |
| PubMedID: 30527376 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed omega-O-acylceramide production by ABHD5 - Ohno_2018_J.Dermatol.Sci_92_245 |
| Author(s) : Ohno Y , Nara A , Nakamichi S , Kihara A |
| Ref : J Dermatol Sci , 92 :245 , 2018 |
| Abstract : |
| PubMedSearch : Ohno_2018_J.Dermatol.Sci_92_245 |
| PubMedID: 30527376 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed omega-O-acylceramide production by ABHD5 - Ohno_2018_J.Dermatol.Sci_92_245 |
| Author(s) : Ohno Y , Nara A , Nakamichi S , Kihara A |
| Ref : J Dermatol Sci , 92 :245 , 2018 |
| Abstract : |
| PubMedSearch : Ohno_2018_J.Dermatol.Sci_92_245 |
| PubMedID: 30527376 |
| Gene_locus related to this paper: human-ABHD5 |