| Title : Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan - |
| Author(s) : Takeichi T , Tanahashi K , Taki T , Kono M , Sugiura K , Akiyama M |
| Ref : Br J Dermatol , 177 :290 , 2017 |
| PubMedID: 27641630 |
| Gene_locus related to this paper: human-LIPH |
| Title : Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis - Akiyama_2017_J.Dermatol.Sci_88_3 |
| Author(s) : Akiyama M |
| Ref : J Dermatol Sci , 88 :3 , 2017 |
| Abstract : |
| PubMedSearch : Akiyama_2017_J.Dermatol.Sci_88_3 |
| PubMedID: 28623042 |
| Title : PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis - Hirabayashi_2017_Nat.Commun_8_14609 |
| Author(s) : Hirabayashi T , Anjo T , Kaneko A , Senoo Y , Shibata A , Takama H , Yokoyama K , Nishito Y , Ono T , Taya C , Muramatsu K , Fukami K , Munoz-Garcia A , Brash AR , Ikeda K , Arita M , Akiyama M , Murakami M |
| Ref : Nat Commun , 8 :14609 , 2017 |
| Abstract : |
| PubMedSearch : Hirabayashi_2017_Nat.Commun_8_14609 |
| PubMedID: 28248300 |
| Title : Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome - |
| Author(s) : Takeichi T , Sugiura K , Tso S , Simpson MA , McGrath JA , Akiyama M |
| Ref : J Dermatol Sci , 81 :134 , 2016 |
| PubMedID: 26547112 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis - Sugiura_2015_J.Dermatol.Sci_79_4 |
| Author(s) : Sugiura K , Akiyama M |
| Ref : J Dermatol Sci , 79 :4 , 2015 |
| Abstract : |
| PubMedSearch : Sugiura_2015_J.Dermatol.Sci_79_4 |
| PubMedID: 25982146 |
| Title : Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations - |
| Author(s) : Tanahashi K , Sugiura K , Akiyama M |
| Ref : Br J Dermatol , 173 :865 , 2015 |
| PubMedID: 25819726 |
| Gene_locus related to this paper: human-LIPH |
| Title : Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6 - |
| Author(s) : Sugiura K , Suga Y , Akiyama M |
| Ref : J Dermatol Sci , 75 :199 , 2014 |
| PubMedID: 24996587 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair\/hypotrichosis in Japan and the genotype\/phenotype correlations - Tanahashi_2014_PLoS.One_9_e89261 |
| Author(s) : Tanahashi K , Sugiura K , Kono M , Takama H , Hamajima N , Akiyama M |
| Ref : PLoS ONE , 9 :e89261 , 2014 |
| Abstract : |
| PubMedSearch : Tanahashi_2014_PLoS.One_9_e89261 |
| PubMedID: 24586639 |
| Gene_locus related to this paper: human-LIPH |
| Title : Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood - Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
| Author(s) : Tanahashi K , Sugiura K , Takeichi T , Takama H , Shinkuma S , Shimizu H , Akiyama M |
| Ref : J Eur Acad Dermatol Venereol , 27 :1182 , 2013 |
| Abstract : |
| PubMedSearch : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
| PubMedID: 22449147 |
| Gene_locus related to this paper: human-LIPH |
| Title : The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair\/hypotrichosis - |
| Author(s) : Shinkuma S , Inoue A , Aoki J , Nishie W , Natsuga K , Ujiie H , Nomura T , Abe R , Akiyama M , Shimizu H |
| Ref : Journal of Investigative Dermatology , 132 :2093 , 2012 |
| PubMedID: 22475755 |
| Gene_locus related to this paper: human-LIPH |
| Title : Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome - |
| Author(s) : Uchida Y , Cho Y , Moradian S , Kim J , Nakajima K , Crumrine D , Park K , Ujihara M , Akiyama M , Shimizu H , Holleran WM , Sano S , Elias PM |
| Ref : Journal of Investigative Dermatology , 130 :2497 , 2010 |
| PubMedID: 20520629 |
| Title : Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis - Shinkuma_2010_Hum.Mutat_31_602 |
| Author(s) : Shinkuma S , Akiyama M , Inoue A , Aoki J , Natsuga K , Nomura T , Arita K , Abe R , Ito K , Nakamura H , Ujiie H , Shibaki A , Suga H , Tsunemi Y , Nishie W , Shimizu H |
| Ref : Hum Mutat , 31 :602 , 2010 |
| Abstract : |
| PubMedSearch : Shinkuma_2010_Hum.Mutat_31_602 |
| PubMedID: 20213768 |
| Gene_locus related to this paper: human-LIPH |
| Title : Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome - Ujihara_2010_J.Dermatol.Sci_57_102 |
| Author(s) : Ujihara M , Nakajima K , Yamamoto M , Teraishi M , Uchida Y , Akiyama M , Shimizu H , Sano S |
| Ref : J Dermatol Sci , 57 :102 , 2010 |
| Abstract : |
| PubMedSearch : Ujihara_2010_J.Dermatol.Sci_57_102 |
| PubMedID: 20022472 |
| Title : Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009 - Oji_2010_J.Am.Acad.Dermatol_63_607 |
| Author(s) : Oji V , Tadini G , Akiyama M , Blanchet Bardon C , Bodemer C , Bourrat E , Coudiere P , DiGiovanna JJ , Elias P , Fischer J , Fleckman P , Gina M , Harper J , Hashimoto T , Hausser I , Hennies HC , Hohl D , Hovnanian A , Ishida-Yamamoto A , Jacyk WK , Leachman S , Leigh I , Mazereeuw-Hautier J , Milstone L , Morice-Picard F , Paller AS , Richard G , Schmuth M , Shimizu H , Sprecher E , Van Steensel M , Taieb A , Toro JR , Vabres P , Vahlquist A , Williams M , Traupe H |
| Ref : J Am Acad Dermatol , 63 :607 , 2010 |
| Abstract : |
| PubMedSearch : Oji_2010_J.Am.Acad.Dermatol_63_607 |
| PubMedID: 20643494 |
| Title : A snack enriched with oral branched-chain amino acids prevents a fall in albumin in patients with liver cirrhosis undergoing chemoembolization for hepatocellular carcinoma - Takeshita_2009_Nutr.Res_29_89 |
| Author(s) : Takeshita S , Ichikawa T , Nakao K , Miyaaki H , Shibata H , Matsuzaki T , Muraoka T , Honda T , Otani M , Akiyama M , Miuma S , Ozawa E , Fujimito M , Eguchi K |
| Ref : Nutr Res , 29 :89 , 2009 |
| Abstract : |
| PubMedSearch : Takeshita_2009_Nutr.Res_29_89 |
| PubMedID: 19285598 |
| Title : CGI-58 is an alpha\/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes - Akiyama_2008_Am.J.Pathol_173_1349 |
| Author(s) : Akiyama M , Sakai K , Takayama C , Yanagi T , Yamanaka Y , McMillan JR , Shimizu H |
| Ref : American Journal of Pathology , 173 :1349 , 2008 |
| Abstract : |
| PubMedSearch : Akiyama_2008_Am.J.Pathol_173_1349 |
| PubMedID: 18832586 |
| Title : Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy - Akiyama_2007_Muscle.Nerve_36_856 |
| Author(s) : Akiyama M , Sakai K , Ogawa M , McMillan JR , Sawamura D , Shimizu H |
| Ref : Muscle & Nerve , 36 :856 , 2007 |
| Abstract : |
| PubMedSearch : Akiyama_2007_Muscle.Nerve_36_856 |
| PubMedID: 17657808 |
| Title : Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome - Akiyama_2003_J.Invest.Dermatol_121_1029 |
| Author(s) : Akiyama M , Sawamura D , Nomura Y , Sugawara M , Shimizu H |
| Ref : Journal of Investigative Dermatology , 121 :1029 , 2003 |
| Abstract : |
| PubMedSearch : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedID: 14708602 |
| Gene_locus related to this paper: human-ABHD5 |