BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 37455568)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
    Elbendary HM; Marafi D; Saad AK; Elhossini R; Duan R; Rafat K; Jhangiani SN; Gibbs RA; Pehlivan D; Calame DG; Posey JE; Lupski JR; Zaki MS
    Clin Genet; 2023 Sep; 104(3):344-349. PubMed ID: 37157980
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
    Matza Porges S; Mor-Shaked H; Shaag A; Porat S; Daum H
    Eur J Med Genet; 2023 Oct; 66(10):104825. PubMed ID: 37659595
    [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. 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]  

  • 14. 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]  

  • 15. Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic
    Kang Q; Kang H; Tang J; Wang M; Jiang H; Ning Z; Wu L
    Front Neurosci; 2024; 18():1301865. PubMed ID: 38800572
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
    Nanda A; Pasternack SM; Mahmoudi H; Ishorst N; Grimalt R; Betz RC
    Pediatr Dermatol; 2014; 31(1):83-7. PubMed ID: 24015686
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
    Elaraby NM; Ahmed HA; Ashaat NA; Tawfik S; Ahmed MKH; Hassib NF; Ashaat EA
    J Mol Neurosci; 2022 Nov; 72(11):2242-2251. PubMed ID: 36251212
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Lanosterol Synthase Pathway Alleviates Lens Opacity in Age-Related Cortical Cataract.
    Shen X; Zhu M; Kang L; Tu Y; Li L; Zhang R; Qin B; Yang M; Guan H
    J Ophthalmol; 2018; 2018():4125893. PubMed ID: 30116630
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.