BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

89 related articles for article (PubMed ID: 29016354)

  • 1. 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]  

  • 2. 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]  

  • 3. Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.
    Reis LM; Tyler RC; Semina EV
    Mol Vis; 2014; 20():836-42. PubMed ID: 24940039
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.
    Ren M; Yang XG; Dang XJ; Xiao JA
    Graefes Arch Clin Exp Ophthalmol; 2017 Jan; 255(1):141-151. PubMed ID: 27785597
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.
    Happ H; Weh E; Costakos D; Reis LM; Semina EV
    BMC Med Genet; 2016 Sep; 17(1):64. PubMed ID: 27609212
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
    Bu L; Jin Y; Shi Y; Chu R; Ban A; Eiberg H; Andres L; Jiang H; Zheng G; Qian M; Cui B; Xia Y; Liu J; Hu L; Zhao G; Hayden MR; Kong X
    Nat Genet; 2002 Jul; 31(3):276-8. PubMed ID: 12089525
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.
    Yuan L; Yi J; Lin Q; Xu H; Deng X; Xiong W; Xiao J; Jiang C; Yuan X; Chen Y; Deng H
    QJM; 2016 Nov; 109(11):731-735. PubMed ID: 27081207
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
    Javadiyan S; Craig JE; Souzeau E; Sharma S; Lower KM; Pater J; Casey T; Hodson T; Burdon KP
    BMC Res Notes; 2016 Feb; 9():83. PubMed ID: 26867756
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract.
    Wei T; Sun H; Hu B; Yang J; Qiao C; Yan M
    Twin Res Hum Genet; 2015 Aug; 18(4):393-8. PubMed ID: 26045100
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
    Ma AS; Grigg JR; Ho G; Prokudin I; Farnsworth E; Holman K; Cheng A; Billson FA; Martin F; Fraser C; Mowat D; Smith J; Christodoulou J; Flaherty M; Bennetts B; Jamieson RV
    Hum Mutat; 2016 Apr; 37(4):371-84. PubMed ID: 26694549
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
    Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO
    Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.