These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. 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]
5. Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. Hayashi R; Inui S; Farooq M; Ito M; Shimomura Y J Dermatol; 2014 Oct; 41(10):890-4. PubMed ID: 25271093 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. 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 Hum Mutat; 2010 May; 31(5):602-10. PubMed ID: 20213768 [TBL] [Abstract][Full Text] [Related]
10. Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. Shimomura Y; Wajid M; Zlotogorski A; Lee YJ; Rice RH; Christiano AM J Invest Dermatol; 2009 Aug; 129(8):1927-34. PubMed ID: 19262606 [TBL] [Abstract][Full Text] [Related]
11. Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case. Yamaguchi N; Kiniwa Y; Hayashi R; Abe R; Katsuie S; Okuyama R J Dermatol; 2023 Aug; 50(8):e238-e239. PubMed ID: 36852523 [No Abstract] [Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. Kurban M; Wajid M; Shimomura Y; Christiano AM J Eur Acad Dermatol Venereol; 2013 May; 27(5):545-9. PubMed ID: 22385360 [TBL] [Abstract][Full Text] [Related]
16. Two cases of autosomal recessive woolly hair with LIPH gene mutations. Harada K; Inozume T; Kawamura T; Shibagaki N; Kinoshita T; Deguchi N; Shimada S Int J Dermatol; 2013 May; 52(5):572-4. PubMed ID: 23590372 [TBL] [Abstract][Full Text] [Related]
17. 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]
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. Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype. Shah SH; Abid A; Shahid S; Khaliq S J Pak Med Assoc; 2011 Nov; 61(11):1060-4. PubMed ID: 22125978 [TBL] [Abstract][Full Text] [Related]
20. The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Petukhova L; Shimomura Y; Wajid M; Gorroochurn P; Hodge SE; Christiano AM Hum Hered; 2009; 68(2):117-30. PubMed ID: 19365138 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]