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References (8)

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 : 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 : 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 : 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 : Sugiura_2015_J.Dermatol.Sci_79_4
ESTHER : Sugiura_2015_J.Dermatol.Sci_79_4
PubMedSearch : Sugiura_2015_J.Dermatol.Sci_79_4
PubMedID: 25982146

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 : Tanahashi_2014_PLoS.One_9_e89261
ESTHER : Tanahashi_2014_PLoS.One_9_e89261
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 : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182
ESTHER : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182
PubMedSearch : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182
PubMedID: 22449147
Gene_locus related to this paper: human-LIPH

Title : The transcriptional landscape of the mammalian genome - Carninci_2005_Science_309_1559
Author(s) : Carninci P , Kasukawa T , Katayama S , Gough J , Frith MC , Maeda N , Oyama R , Ravasi T , Lenhard B , Wells C , Kodzius R , Shimokawa K , Bajic VB , Brenner SE , Batalov S , Forrest AR , Zavolan M , Davis MJ , Wilming LG , Aidinis V , Allen JE , Ambesi-Impiombato A , Apweiler R , Aturaliya RN , Bailey TL , Bansal M , Baxter L , Beisel KW , Bersano T , Bono H , Chalk AM , Chiu KP , Choudhary V , Christoffels A , Clutterbuck DR , Crowe ML , Dalla E , Dalrymple BP , de Bono B , Della Gatta G , di Bernardo D , Down T , Engstrom P , Fagiolini M , Faulkner G , Fletcher CF , Fukushima T , Furuno M , Futaki S , Gariboldi M , Georgii-Hemming P , Gingeras TR , Gojobori T , Green RE , Gustincich S , Harbers M , Hayashi Y , Hensch TK , Hirokawa N , Hill D , Huminiecki L , Iacono M , Ikeo K , Iwama A , Ishikawa T , Jakt M , Kanapin A , Katoh M , Kawasawa Y , Kelso J , Kitamura H , Kitano H , Kollias G , Krishnan SP , Kruger A , Kummerfeld SK , Kurochkin IV , Lareau LF , Lazarevic D , Lipovich L , Liu J , Liuni S , McWilliam S , Madan Babu M , Madera M , Marchionni L , Matsuda H , Matsuzawa S , Miki H , Mignone F , Miyake S , Morris K , Mottagui-Tabar S , Mulder N , Nakano N , Nakauchi H , Ng P , Nilsson R , Nishiguchi S , Nishikawa S , Nori F , Ohara O , Okazaki Y , Orlando V , Pang KC , Pavan WJ , Pavesi G , Pesole G , Petrovsky N , Piazza S , Reed J , Reid JF , Ring BZ , Ringwald M , Rost B , Ruan Y , Salzberg SL , Sandelin A , Schneider C , Schonbach C , Sekiguchi K , Semple CA , Seno S , Sessa L , Sheng Y , Shibata Y , Shimada H , Shimada K , Silva D , Sinclair B , Sperling S , Stupka E , Sugiura K , Sultana R , Takenaka Y , Taki K , Tammoja K , Tan SL , Tang S , Taylor MS , Tegner J , Teichmann SA , Ueda HR , van Nimwegen E , Verardo R , Wei CL , Yagi K , Yamanishi H , Zabarovsky E , Zhu S , Zimmer A , Hide W , Bult C , Grimmond SM , Teasdale RD , Liu ET , Brusic V , Quackenbush J , Wahlestedt C , Mattick JS , Hume DA , Kai C , Sasaki D , Tomaru Y , Fukuda S , Kanamori-Katayama M , Suzuki M , Aoki J , Arakawa T , Iida J , Imamura K , Itoh M , Kato T , Kawaji H , Kawagashira N , Kawashima T , Kojima M , Kondo S , Konno H , Nakano K , Ninomiya N , Nishio T , Okada M , Plessy C , Shibata K , Shiraki T , Suzuki S , Tagami M , Waki K , Watahiki A , Okamura-Oho Y , Suzuki H , Kawai J , Hayashizaki Y
Ref : Science , 309 :1559 , 2005
Abstract : Carninci_2005_Science_309_1559
ESTHER : Carninci_2005_Science_309_1559
PubMedSearch : Carninci_2005_Science_309_1559
PubMedID: 16141072
Gene_locus related to this paper: mouse-abhd1 , mouse-abhd3 , mouse-abhd4 , mouse-acot4 , mouse-adcl4 , mouse-DGLB , mouse-ephx3 , mouse-Kansl3 , mouse-lipli , mouse-LIPN , mouse-Ppgb , mouse-q3uuq7 , mouse-srac1 , mouse-Tex30 , mouse-tmco4 , mouse-tmm53 , mouse-f172a