BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 31322293)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.
    Ali G; Awan NB; Sadia ; Khawaja AW; Foo JN; Khor CC; Chang CH; Chew EG; Kiani FR; Jelani M
    J Gene Med; 2020 May; 22(5):e3167. PubMed ID: 32020700
    [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. A newborn with hair loss.
    Fyall KM; Fine CA; Morrell DS
    Clin Pediatr (Phila); 2013 Feb; 52(2):187-9. PubMed ID: 23378481
    [No Abstract]   [Full Text] [Related]  

  • 8. Molecular genetics of alopecias.
    Ramot Y; Zlotogorski A
    Curr Probl Dermatol; 2015; 47():87-96. PubMed ID: 26370647
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family.
    Ahmed MS; Rauf S; Naeem M; Khan MN; Mir A
    J Dermatol; 2013 Nov; 40(11):927-8. PubMed ID: 24111842
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias.
    Suga H; Tsunemi Y; Sugaya M; Shinkuma S; Akiyama M; Shimizu H; Sato S
    Acta Derm Venereol; 2011 Jun; 91(4):486-8. PubMed ID: 21537821
    [No Abstract]   [Full Text] [Related]  

  • 13. Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis.
    Ito T; Shimomura Y; Ogai M; Sakabe J; Tokura Y
    J Dermatol; 2013 Apr; 40(4):278-80. PubMed ID: 23293922
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review.
    Wang S; Tu C; Feng Y; Wang X; Zhang D; Xiao S
    Dermatology; 2013; 226(1):68-74. PubMed ID: 23548463
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital atrichia with papular lesions.
    Hajare SA; Gavali S; Mukhi J; Singh RP
    Dermatol Online J; 2020 Apr; 26(4):. PubMed ID: 32621683
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Odd-looking hair and progressive alopecia in mother and son.
    Kolb-Mäurer A; Betz RC; Hamm H
    JAMA Dermatol; 2014 May; 150(5):567-8. PubMed ID: 24647624
    [No Abstract]   [Full Text] [Related]  

  • 19. A novel loci of the HR gene in Marie - Unna hereditary hypotrichosis using whole-exome sequencing.
    Lee M; Lee G; Chung YJ; Kang MJ; Yu DS; Lee YB
    Indian J Dermatol Venereol Leprol; 2020; 86(3):321-324. PubMed ID: 32235101
    [No Abstract]   [Full Text] [Related]  

  • 20. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities.
    Farkas K; Nagy N; Kinyó A; Kemény L; Széll M
    Arch Dermatol Res; 2012 Oct; 304(8):679-81. PubMed ID: 22584530
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.