171 related articles for article (PubMed ID: 27774676)
1. Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis.
Itoh E; Nakahara T; Furumura M; Furue M; Shimomura Y
J Dermatol; 2017 Oct; 44(10):1185-1186. PubMed ID: 27774676
[No Abstract] [Full Text] [Related]
2. 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.
Ito T; Shimomura Y; Hayashi R; Tokura Y
J Dermatol; 2015 Jul; 42(7):752-3. PubMed ID: 25899282
[No Abstract] [Full Text] [Related]
3. 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.
Takeichi T; Tanahashi K; Taki T; Kono M; Sugiura K; Akiyama M
Br J Dermatol; 2017 Jul; 177(1):290-292. PubMed ID: 27641630
[No Abstract] [Full Text] [Related]
4. Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review.
Mizukami Y; Hayashi R; Tsuruta D; Shimomura Y; Sugawara K
J Dermatol; 2018 May; 45(5):613-617. PubMed ID: 29464811
[TBL] [Abstract][Full Text] [Related]
5. Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis.
Sleiman MB; Sleiman MB; Abbas O; Btadini W; Najjar T; Tofaili M; Chedraoui A; Khalil S; Kibbi AG; Kurban M
J Dermatol; 2015 Aug; 42(8):822-4. PubMed ID: 26046953
[No Abstract] [Full Text] [Related]
6. The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.
Shinkuma S; Inoue A; Aoki J; Nishie W; Natsuga K; Ujiie H; Nomura T; Abe R; Akiyama M; Shimizu H
J Invest Dermatol; 2012 Aug; 132(8):2093-5. PubMed ID: 22475755
[No Abstract] [Full Text] [Related]
7. Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
Tanahashi K; Sugiura K; Takeichi T; Takama H; Shinkuma S; Shimizu H; Akiyama M
J Eur Acad Dermatol Venereol; 2013 Sep; 27(9):1182-4. PubMed ID: 22449147
[TBL] [Abstract][Full Text] [Related]
8. A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
Fujimoto A; Farooq M; Fujikawa H; Inoue A; Ohyama M; Ehama R; Nakanishi J; Hagihara M; Iwabuchi T; Aoki J; Ito M; Shimomura Y
J Invest Dermatol; 2012 Oct; 132(10):2342-2349. PubMed ID: 22592156
[TBL] [Abstract][Full Text] [Related]
9. Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).
Chang XD; Gu YJ; Dai S; Chen XR; Zhang CL; Zhao HS; Song QH
Mutagenesis; 2017 Dec; 32(6):599-606. PubMed ID: 29346610
[TBL] [Abstract][Full Text] [Related]
10. Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
Ahmad F; Sharif S; Furqan Ubaid M; Shah K; Khan MN; Umair M; Azeem Z; Ahmad W
Congenit Anom (Kyoto); 2018 Jan; 58(1):24-28. PubMed ID: 28425126
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
Khan S; Habib R; Mir H; Umm-e-Kalsoom ; Naz G; Ayub M; Shafique S; Yamin T; Ali N; Basit S; Wasif N; Kamran-Ul-Hassan Naqvi S; Ali G; Wali A; Ansar M; Ahmad W
Clin Exp Dermatol; 2011 Aug; 36(6):652-4. PubMed ID: 21426374
[TBL] [Abstract][Full Text] [Related]
12. A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia.
Hamada K; Kubo R; Nishio D; Nakamura M
Eur J Dermatol; 2014; 24(2):272-3. PubMed ID: 24722066
[No Abstract] [Full Text] [Related]
13. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants.
Taki T; Tanahashi K; Takeichi T; Yoshikawa T; Murase Y; Sugiura K; Akiyama M
JAMA Dermatol; 2020 Oct; 156(10):1030-1032. PubMed ID: 32667621
[TBL] [Abstract][Full Text] [Related]
14. Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
Tanahashi K; Sugiura K; Kono M; Takama H; Hamajima N; Akiyama M
PLoS One; 2014; 9(2):e89261. PubMed ID: 24586639
[TBL] [Abstract][Full Text] [Related]
15. 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 M; Kubo A; Sasaki T; Umegaki-Arao N; Amagai M; Ohyama M
Br J Dermatol; 2017 Jan; 176(1):138-144. PubMed ID: 27375176
[TBL] [Abstract][Full Text] [Related]
16. Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
Yoshimasu T; Kanazawa N; Kambe N; Nakamura M; Furukawa F
J Dermatol; 2011 Sep; 38(9):900-4. PubMed ID: 21352330
[TBL] [Abstract][Full Text] [Related]
17. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.
Zernov NV; Skoblov MY; Marakhonov AV; Shimomura Y; Vasilyeva TA; Konovalov FA; Abrukova AV; Zinchenko RA
J Invest Dermatol; 2016 Jun; 136(6):1097-1105. PubMed ID: 26902920
[TBL] [Abstract][Full Text] [Related]
18. Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
Lv H; Li M; Cheng R
J Dermatol; 2020 Dec; 47(12):1445-1449. PubMed ID: 32901930
[TBL] [Abstract][Full Text] [Related]
19. Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.
Khan GM; Hassan N; Khan N; Humayun M; Khan K; Khaliq S; Rehman FU; Ahmed S; Shah K; Khan SA; Muhammad N; Wali A; Khan S; Basit S; Ayub M
Int J Dermatol; 2019 Aug; 58(8):946-952. PubMed ID: 31077348
[TBL] [Abstract][Full Text] [Related]
20. Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.
Asano N; Okita T; Yasuno S; Yamaguchi M; Kashiwagi K; Kanekura T; Shimomura Y
J Dermatol; 2019 Jan; 46(1):e19-e20. PubMed ID: 29974973
[No Abstract] [Full Text] [Related]
[Next] [New Search]
