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.C246S Cys246Ser c.736T>A exon6
| Title : Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient - Minakawa_2024_Front.Med.(Lausanne)_11_1374222 |
| Author(s) : Minakawa S , Matsuzaki Y , Higashino T , Suzuki T , Tomita H , Akasaka E , Sawamura D |
| Ref : Front Med (Lausanne) , 11 :1374222 , 2024 |
| Abstract : |
| PubMedSearch : Minakawa_2024_Front.Med.(Lausanne)_11_1374222 |
| PubMedID: 38818404 |
| Gene_locus related to this paper: human-LIPH |
| Title : Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair - |
| Author(s) : Asano N , Okita T , Yasuno S , Yamaguchi M , Kashiwagi K , Kanekura T , Shimomura Y |
| Ref : J Dermatol , 46 :e19 , 2019 |
| PubMedID: 29974973 |
| Gene_locus related to this paper: human-LIPH |
| 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 : |
| 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 : Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair\/hypotrichosis with homozygous c.736T>A LIPH mutation - Kinoshita-Ise_2017_Br.J.Dermatol_176_138 |
| Author(s) : Kinoshita-Ise M , Kubo A , Sasaki T , Umegaki-Arao N , Amagai M , Ohyama M |
| Ref : Br J Dermatol , 176 :138 , 2017 |
| Abstract : |
| PubMedSearch : Kinoshita-Ise_2017_Br.J.Dermatol_176_138 |
| PubMedID: 27375176 |
| 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 : Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair - |
| Author(s) : Matsuo Y , Tanaka A , Shimomura Y , Hide M |
| Ref : J Dermatol , 43 :1384 , 2016 |
| PubMedID: 27094727 |
| Gene_locus related to this paper: human-LIPH |
| Title : Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair\/hypotrichosis - |
| Author(s) : Ito T , Shimomura Y , Hayashi R , Tokura Y |
| Ref : J Dermatol , 42 :752 , 2015 |
| PubMedID: 25899282 |
| Gene_locus related to this paper: human-LIPH |
| Title : A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia - |
| Author(s) : Hamada K , Kubo R , Nishio D , Nakamura M |
| Ref : Eur J Dermatol , 24 :272 , 2014 |
| PubMedID: 24722066 |
| Gene_locus related to this paper: human-LIPH |
| Title : Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair - Hayashi_2014_J.Dermatol_41_890 |
| Author(s) : Hayashi R , Inui S , Farooq M , Ito M , Shimomura Y |
| Ref : J Dermatol , 41 :890 , 2014 |
| Abstract : |
| PubMedSearch : Hayashi_2014_J.Dermatol_41_890 |
| PubMedID: 25271093 |
| 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 : |
| PubMedSearch : Tanahashi_2014_PLoS.One_9_e89261 |
| PubMedID: 24586639 |
| Gene_locus related to this paper: human-LIPH |
| Title : Two cases of autosomal recessive woolly hair with LIPH gene mutations - Harada_2013_Int.J.Dermatol_52_572 |
| Author(s) : Harada K , Inozume T , Kawamura T , Shibagaki N , Kinoshita T , Deguchi N , Shimada S |
| Ref : Int J Dermatol , 52 :572 , 2013 |
| Abstract : |
| PubMedSearch : Harada_2013_Int.J.Dermatol_52_572 |
| PubMedID: 23590372 |
| Gene_locus related to this paper: human-LIPH |
| Title : A case of autosomal recessive woolly hair\/hypotrichosis with alternation in severity: deterioration and improvement with age - Matsuno_2013_Case.Rep.Dermatol_5_363 |
| Author(s) : Matsuno N , Kunisada M , Kanki H , Simomura Y , Nishigori C |
| Ref : Case Rep Dermatol , 5 :363 , 2013 |
| Abstract : |
| PubMedSearch : Matsuno_2013_Case.Rep.Dermatol_5_363 |
| PubMedID: 24474919 |
| 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 : Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair - Yoshimasu_2011_J.Dermatol_38_900 |
| Author(s) : Yoshimasu T , Kanazawa N , Kambe N , Nakamura M , Furukawa F |
| Ref : J Dermatol , 38 :900 , 2011 |
| Abstract : |
| PubMedSearch : Yoshimasu_2011_J.Dermatol_38_900 |
| PubMedID: 21352330 |
| 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 : |
| 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 |