Gene Locus : human-LIPH
Mode of mutation : Natural mutant
Disease : Hypotrichosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.H248N His248Asn c.742C>A exon6
| Title : Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair\/hypotrichosis: Case report and published work review - Mizukami_2018_J.Dermatol_45_613 |
| Author(s) : Mizukami Y , Hayashi R , Tsuruta D , Shimomura Y , Sugawara K |
| Ref : J Dermatol , 45 :613 , 2018 |
| Abstract : Mizukami_2018_J.Dermatol_45_613 |
| ESTHER : Mizukami_2018_J.Dermatol_45_613 |
| PubMedSearch : Mizukami_2018_J.Dermatol_45_613 |
| PubMedID: 29464811 |
| Gene_locus related to this paper: human-LIPH |
| Title : Case of autosomal recessive woolly hair\/hypotrichosis with atopic dermatitis - |
| Author(s) : Itoh E , Nakahara T , Furumura M , Furue M , Shimomura Y |
| Ref : J Dermatol , 44 :1185 , 2017 |
| PubMedID: 27774676 |
| Gene_locus related to this paper: human-LIPH |
| 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 : 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 : Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family - |
| Author(s) : Hayashi R , Akasaka T , Ito M , Shimomura Y |
| Ref : J Dermatol , 41 :937 , 2014 |
| PubMedID: 25201209 |
| 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 : 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 : Shinkuma_2010_Hum.Mutat_31_602 |
| ESTHER : Shinkuma_2010_Hum.Mutat_31_602 |
| PubMedSearch : Shinkuma_2010_Hum.Mutat_31_602 |
| PubMedID: 20213768 |
| Gene_locus related to this paper: human-LIPH |
| Title : Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair\/hypotrichosis - |
| Author(s) : Shimomura Y , Ito M , Christiano AM |
| Ref : J Dermatol Sci , 56 :205 , 2009 |
| PubMedID: 19892526 |
| Gene_locus related to this paper: human-LIPH |