159 related articles for article (PubMed ID: 36685177)
1. A novel homozygous mutation in
Zhao B; Tang Y; Chen W; Wan H; Yang J; Chen X
Front Physiol; 2022; 13():992190. PubMed ID: 36685177
[No Abstract] [Full Text] [Related]
2. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT; Tafazzoli A; Mattern M; Sivalingam S; Wolf S; Rupp A; Thiele H; Altmüller J; Nürnberg P; Ellwanger J; Gambon R; Baumer A; Kohlschmidt N; Metze D; Holdenrieder S; Paus R; Lütjohann D; Frank J; Geyer M; Bertolini M; Kokordelis P; Betz RC
Am J Hum Genet; 2018 Nov; 103(5):777-785. PubMed ID: 30401459
[TBL] [Abstract][Full Text] [Related]
3. Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
Hua S; Ding Y; Zhang J; Qian Q; Li M
J Dermatol; 2021 Mar; 48(3):408-412. PubMed ID: 33222230
[TBL] [Abstract][Full Text] [Related]
4. Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene.
El Hakim J; Mehawej C; Chouery E; Megarbane A; El-Feghaly J; El Khoury J
Pediatr Dermatol; 2023; 40(5):960-961. PubMed ID: 37029088
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.
Guo D; Zhang Q
Am J Med Genet A; 2023 Sep; 191(9):2398-2401. PubMed ID: 37455568
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T; Sloboda N; Goldenberg A; Küry S; Cogné B; Breheret F; Trochu E; Conrad S; Vincent M; Deb W; Balguerie X; Barbarot S; Baujat G; Ben-Omran T; Bursztejn AC; Carmignac V; Datta AN; Delignières A; Faivre L; Gardie B; Guéant JL; Kuentz P; Lenglet M; Nassogne MC; Ramaekers V; Schnur RE; Si Y; Torti E; Thevenon J; Vabres P; Van Maldergem L; Wand D; Wiedemann A; Cariou B; Redon R; Lamazière A; Bézieau S; Feillet F; Isidor B
Genet Med; 2019 Sep; 21(9):2025-2035. PubMed ID: 30723320
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.
Nahum S; Morice-Picard F; Taieb A; Sprecher E
Clin Exp Dermatol; 2011 Mar; 36(2):188-94. PubMed ID: 21070332
[TBL] [Abstract][Full Text] [Related]
10. Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene.
Murata M; Hayashi R; Kawakami Y; Morizane S; Shimomura Y
J Dermatol; 2021 Mar; 48(3):392-396. PubMed ID: 33155697
[TBL] [Abstract][Full Text] [Related]
11. A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
Jelani M; Wasif N; Ali G; Chishti M; Ahmad W
Clin Genet; 2008 Aug; 74(2):184-8. PubMed ID: 18445047
[TBL] [Abstract][Full Text] [Related]
12. A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.
Tan Y; Tian H; Mai J; Wang H; Yang M; Liu S
Mol Genet Genomic Med; 2024 Jan; 12(1):e2320. PubMed ID: 37947113
[TBL] [Abstract][Full Text] [Related]
13. 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]
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. 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]
16. Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.
Zhou S; Jiang X; Zhu Y; Yang J; Yuan C; Chen M; Zhou Q; Lin Z; Li M
Exp Dermatol; 2023 May; 32(5):699-706. PubMed ID: 36811447
[TBL] [Abstract][Full Text] [Related]
17. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
Wada Y; Kikuchi A; Kaga A; Shimizu N; Ito J; Onuma R; Fujishima F; Totsune E; Sato R; Niihori T; Shirota M; Funayama R; Sato K; Nakazawa T; Nakayama K; Aoki Y; Aiba S; Nakagawa K; Kure S
PLoS Genet; 2020 Feb; 16(2):e1008628. PubMed ID: 32101538
[TBL] [Abstract][Full Text] [Related]
18. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
Naz G; Khan B; Ali G; Azeem Z; Wali A; Ansar M; Ahmad W
J Dermatol Sci; 2009 Apr; 54(1):12-6. PubMed ID: 19167195
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
van der Velden JJAJ; van Geel M; Engelhart JJ; Jonkman MF; Steijlen PM
J Dermatol; 2020 Jan; 47(1):3-7. PubMed ID: 31663161
[TBL] [Abstract][Full Text] [Related]
20. A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.
Ullah A; Raza SI; Ali RH; Naveed AK; Jan A; Rizvi SD; Satti R; Ahmad W
Clin Exp Dermatol; 2015 Jan; 40(1):78-84. PubMed ID: 25251037
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
