180 related articles for article (PubMed ID: 32101538)
1. 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]
2. 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]
3. 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]
4. Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Cesarato N; Wehner M; Ghughunishvili M; Schmidt A; Axt D; Thiele H; Lentze MJ; Has C; Geyer M; Basmanav FB; Betz RC
Am J Med Genet A; 2021 Dec; 185(12):3900-3904. PubMed ID: 34318586
[No Abstract] [Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Lanosterol reverses protein aggregation in cataracts.
Zhao L; Chen XJ; Zhu J; Xi YB; Yang X; Hu LD; Ouyang H; Patel SH; Jin X; Lin D; Wu F; Flagg K; Cai H; Li G; Cao G; Lin Y; Chen D; Wen C; Chung C; Wang Y; Qiu A; Yeh E; Wang W; Hu X; Grob S; Abagyan R; Su Z; Tjondro HC; Zhao XJ; Luo H; Hou R; Jefferson J; Perry P; Gao W; Kozak I; Granet D; Li Y; Sun X; Wang J; Zhang L; Liu Y; Yan YB; Zhang K
Nature; 2015 Jul; 523(7562):607-11. PubMed ID: 26200341
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.
Mori M; Li G; Abe I; Nakayama J; Guo Z; Sawashita J; Ugawa T; Nishizono S; Serikawa T; Higuchi K; Shumiya S
J Clin Invest; 2006 Feb; 116(2):395-404. PubMed ID: 16440058
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Congenital cataract with LSS gene mutations: a new case report.
Chen X; Liu L
J Pediatr Endocrinol Metab; 2017 Oct; 30(11):1231-1235. PubMed ID: 29016354
[TBL] [Abstract][Full Text] [Related]
13. The Polymorphism rs2968 of
Zou X; Wang H; Zhou D; Liu Z; Wang Y; Deng G; Guan H
DNA Cell Biol; 2020 Nov; 39(11):1970-1975. PubMed ID: 32877255
[TBL] [Abstract][Full Text] [Related]
14. A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family.
Li F; Liao C; Li R; Zhang Y; Jing X; Li Y; Deng W
J Dermatol; 2019 Nov; 46(11):e393-e395. PubMed ID: 31322293
[No Abstract] [Full Text] [Related]
15. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.
Yang F; Jiang X; Zhu Y; Lee M; Xu Z; Zhang J; Li Q; Lin MY; Wang H; Lin Z
J Invest Dermatol; 2022 Oct; 142(10):2687-2694.e2. PubMed ID: 35413293
[TBL] [Abstract][Full Text] [Related]
16. Defect of LSS Disrupts Lens Development in Cataractogenesis.
Zhao M; Mei T; Shang B; Zou B; Lian Q; Xu W; Wu K; Lai Y; Liu C; Wei L; Zhu J; Zhang K; Liu Y; Zhao L
Front Cell Dev Biol; 2021; 9():788422. PubMed ID: 34926465
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Functional polymorphisms of the Lss and Fdft1 genes in laboratory rats.
Mori M; Sawashita J; Higuchi K
Exp Anim; 2007 Apr; 56(2):93-101. PubMed ID: 17460354
[TBL] [Abstract][Full Text] [Related]
20. Zebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency.
Anderson RA; Schwalbach KT; Mui SR; LeClair EE; Topczewska JM; Topczewski J
Dis Model Mech; 2020 Jun; 13(6):. PubMed ID: 32430393
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
