These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 17986308)

  • 41. Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
    Akiyama M; Sakai K; Sato T; McMillan JR; Goto M; Sawamura D; Shimizu H
    Dermatology; 2007; 215(2):155-9. PubMed ID: 17684380
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction.
    Scott CA; Rajpopat S; Di WL
    Cell Tissue Res; 2013 Feb; 351(2):281-8. PubMed ID: 22864982
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.
    Castiglia D; Castori M; Pisaneschi E; Sommi M; Covaciu C; Zambruno G; Fischer J; Magnani C
    Clin Genet; 2009 Oct; 76(4):392-7. PubMed ID: 19664001
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment.
    Wang X; Cao C; Li Y; Hai T; Jia Q; Zhang Y; Zheng Q; Yao J; Qin G; Zhang H; Song R; Wang Y; Shui G; Lam SM; Liu Z; Wei H; Meng A; Zhou Q; Zhao J
    J Mol Cell Biol; 2019 Dec; 11(12):1029-1041. PubMed ID: 30925591
    [TBL] [Abstract][Full Text] [Related]  

  • 45. An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis.
    Woolley SA; Eager KLM; Häfliger IM; Bauer A; Drögemüller C; Leeb T; O'Rourke BA; Tammen I
    Anim Genet; 2019 Dec; 50(6):749-752. PubMed ID: 31568573
    [TBL] [Abstract][Full Text] [Related]  

  • 46. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
    Montalván-Suárez M; Esperón-Moldes US; Rodríguez-Pazos L; Ordóñez-Ugalde A; Moscoso F; Ugalde-Noritz N; Santomé L; Fachal L; Tettamanti-Miranda D; Ruiz JC; Ginarte M; Vega A
    Mol Genet Genomic Med; 2019 May; 7(5):e608. PubMed ID: 30916489
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Harlequin Infant Born to a Varicella Infected Mother: A Case Report.
    Rajagopal MD; Ch Toi P; Plakkal N; Ayyanar P
    Fetal Pediatr Pathol; 2015; 34(4):241-7. PubMed ID: 26083791
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
    Zhang L; Ferreyros M; Feng W; Hupe M; Crumrine DA; Chen J; Elias PM; Holleran WM; Niswander L; Hohl D; Williams T; Torchia EC; Roop DR
    PLoS One; 2016; 11(8):e0161465. PubMed ID: 27551807
    [TBL] [Abstract][Full Text] [Related]  

  • 49. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
    Akiyama M
    Biochim Biophys Acta; 2014 Mar; 1841(3):435-40. PubMed ID: 23954554
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
    Rajpopat S; Moss C; Mellerio J; Vahlquist A; Gånemo A; Hellstrom-Pigg M; Ilchyshyn A; Burrows N; Lestringant G; Taylor A; Kennedy C; Paige D; Harper J; Glover M; Fleckman P; Everman D; Fouani M; Kayserili H; Purvis D; Hobson E; Chu C; Mein C; Kelsell D; O'Toole E
    Arch Dermatol; 2011 Jun; 147(6):681-6. PubMed ID: 21339420
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Cover image: Unpeeling the layers of harlequin ichthyosis.
    Harris AG; Choy C; Pigors M; Kelsell DP; Murrell DF
    Br J Dermatol; 2016 May; 174(5):1160-1. PubMed ID: 27206363
    [No Abstract]   [Full Text] [Related]  

  • 52. Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.
    Numata S; Teye K; Krol RP; Karashima T; Fukuda S; Matsuda M; Ishii N; Furumura M; Ohata C; Saminathan SD; Ariffin R; Pramono ZA; Leong KF; Hamada T; Hashimoto T
    J Dermatol Sci; 2015 Apr; 78(1):82-5. PubMed ID: 25766764
    [No Abstract]   [Full Text] [Related]  

  • 53. Lamellar ichthyosis in a female neonate without a collodion membrane.
    Chao K; Aleshin M; Goldstein Z; Worswick S; Hogeling M
    Dermatol Online J; 2018 Feb; 24(2):. PubMed ID: 29630152
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Harlequin ichthyosis--difficulties in prenatal diagnosis.
    Zapałowicz K; Wygledowska G; Roszkowski T; Bednarowska A
    J Appl Genet; 2006; 47(2):195-7. PubMed ID: 16682764
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
    Thomas AC; Tattersall D; Norgett EE; O'Toole EA; Kelsell DP
    Am J Pathol; 2009 Mar; 174(3):970-8. PubMed ID: 19179616
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Prenatal Screening for Bathing-suit Ichthyosis After Diagnosis in an Older Sibling.
    Mir-Bonafé JF; Baselga-Torres E; Roé-Crespo E; Puig-Sanz L
    Actas Dermosifiliogr; 2015 Nov; 106(9):770-2. PubMed ID: 26076875
    [No Abstract]   [Full Text] [Related]  

  • 57. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
    Shibata A; Akiyama M
    Pediatr Int; 2015 Aug; 57(4):516-22. PubMed ID: 25857373
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.
    Yanagi T; Akiyama M; Nishihara H; Sakai K; Nishie W; Tanaka S; Shimizu H
    Hum Mol Genet; 2008 Oct; 17(19):3075-83. PubMed ID: 18632686
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [Newborn infant with congenital lamellar ichthyosis; 'collodion baby'].
    Njoo MD; Traupe H; Raghunath M; Sillevis Smitt JH
    Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2434-5. PubMed ID: 11232544
    [No Abstract]   [Full Text] [Related]  

  • 60. ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation.
    Mitsutake S; Suzuki C; Akiyama M; Tsuji K; Yanagi T; Shimizu H; Igarashi Y
    J Dermatol Sci; 2010 Nov; 60(2):128-9. PubMed ID: 20869849
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.