280 related articles for article (PubMed ID: 28425126)
1. 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]
2. 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]
3. Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.
Akiyama M
J Eur Acad Dermatol Venereol; 2021 Sep; 35(9):1788-1796. PubMed ID: 33988877
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.
Mehmood S; Jan A; Muhammad D; Ahmad F; Mir H; Younus M; Ali G; Ayub M; Ansar M; Ahmad W
Australas J Dermatol; 2015 Aug; 56(3):e66-70. PubMed ID: 24628704
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6.
Hayashi R; Inoue A; Suga Y; Aoki J; Shimomura Y
J Dermatol Sci; 2015 Jun; 78(3):197-205. PubMed ID: 25828854
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. A novel deletion mutation in the LPAR6 gene underlies autosomal recessive woolly hair with hypotrichosis.
Liu LH; Chen G; Wang JW; Liu SX; Wang JB; Zhou FS; Zhu J; Sun LD; Gao M; Wang PG; Yang S; Zhang XJ
Clin Exp Dermatol; 2013 Oct; 38(7):796-8. PubMed ID: 23773027
[No Abstract] [Full Text] [Related]
14. 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]
15. A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
Tariq M; Azhar A; Baig SM; Dahl N; Klar J
Sci Rep; 2012; 2():730. PubMed ID: 23066499
[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. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
