BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 29548991)

  • 1. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.
    Mauldin EA; Crumrine D; Casal ML; Jeong S; Opálka L; Vavrova K; Uchida Y; Park K; Craiglow B; Choate KA; Shin KO; Lee YM; Grove GL; Wakefield JS; Khnykin D; Elias PM
    Am J Pathol; 2018 Jun; 188(6):1419-1429. PubMed ID: 29548991
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.
    Mauldin EA; Wang P; Evans E; Cantner CA; Ferracone JD; Credille KM; Casal ML
    Vet Pathol; 2015 Jul; 52(4):654-62. PubMed ID: 25322746
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation.
    Murase Y; Takeichi T; Kawamoto A; Tanahashi K; Okuno Y; Takama H; Shimizu E; Ishikawa J; Ogi T; Akiyama M
    J Dermatol Sci; 2020 Jan; 97(1):50-56. PubMed ID: 31836270
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice.
    Honda Y; Kitamura T; Naganuma T; Abe T; Ohno Y; Sassa T; Kihara A
    J Invest Dermatol; 2018 Apr; 138(4):741-749. PubMed ID: 29174370
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
    Ballin N; Hotz A; Bourrat E; Küsel J; Oji V; Bouadjar B; Brognoli D; Hickman G; Heinz L; Vabres P; Marrakchi S; Leclerc-Mercier S; Irvine A; Tadini G; Hamm H; Has C; Blume-Peytavi U; Mitter D; Reitenbach M; Hausser I; Zimmer AD; Alter S; Fischer J
    Hum Mutat; 2019 Dec; 40(12):2318-2333. PubMed ID: 31347739
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.
    Elias PM; Williams ML; Feingold KR
    Clin Dermatol; 2012; 30(3):311-22. PubMed ID: 22507046
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.
    Dahlqvist J; Westermark GT; Vahlquist A; Dahl N
    Arch Dermatol Res; 2012 Jul; 304(5):377-86. PubMed ID: 22258272
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
    Li H; Loriè EP; Fischer J; Vahlquist A; Törmä H
    J Invest Dermatol; 2012 Oct; 132(10):2368-2375. PubMed ID: 22622417
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
    Dahlqvist J; Klar J; Hausser I; Anton-Lamprecht I; Pigg MH; Gedde-Dahl T; Gånemo A; Vahlquist A; Dahl N
    J Med Genet; 2007 Oct; 44(10):615-20. PubMed ID: 17557927
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis.
    Akiyama M
    J Dermatol Sci; 2017 Oct; 88(1):3-9. PubMed ID: 28623042
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis.
    Li H; Vahlquist A; Törmä H
    J Dermatol Sci; 2013 Mar; 69(3):195-201. PubMed ID: 23290633
    [TBL] [Abstract][Full Text] [Related]  

  • 12. NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.
    Wajid M; Kurban M; Shimomura Y; Christiano AM
    Dermatology; 2010; 220(1):8-14. PubMed ID: 20016120
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope.
    Crumrine D; Khnykin D; Krieg P; Man MQ; Celli A; Mauro TM; Wakefield JS; Menon G; Mauldin E; Miner JH; Lin MH; Brash AR; Sprecher E; Radner FPW; Choate K; Roop D; Uchida Y; Gruber R; Schmuth M; Elias PM
    J Invest Dermatol; 2019 Apr; 139(4):760-768. PubMed ID: 30471252
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production.
    Miyamoto M; Itoh N; Sawai M; Sassa T; Kihara A
    J Invest Dermatol; 2020 Feb; 140(2):319-326.e4. PubMed ID: 31356814
    [TBL] [Abstract][Full Text] [Related]  

  • 15. NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy.
    Briand A; Cochet-Faivre N; Reyes-Gomez E; Jaraud-Darnault A; Tiret L; Chevallier L
    Vet Med Sci; 2019 May; 5(2):112-117. PubMed ID: 30741495
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
    Alavi A; Shahshahani MM; Klotzle B; Fan JB; Ronaghi M; Elahi E
    J Dermatol; 2012 Apr; 39(4):375-81. PubMed ID: 22098531
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.
    Casal ML; Wang P; Mauldin EA; Lin G; Henthorn PS
    PLoS One; 2017; 12(1):e0170708. PubMed ID: 28122049
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.
    Pichery M; Huchenq A; Sandhoff R; Severino-Freire M; Zaafouri S; Opálka L; Levade T; Soldan V; Bertrand-Michel J; Lhuillier E; Serre G; Maruani A; Mazereeuw-Hautier J; Jonca N
    Hum Mol Genet; 2017 May; 26(10):1787-1800. PubMed ID: 28369476
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
    Charfeddine C; Laroussi N; Mkaouar R; Jouini R; Khayat O; Redissi A; Mosbah A; Dallali H; Chedly Debbiche A; Zaouak A; Fenniche S; Abdelhak S; Hammami-Ghorbel H
    PLoS One; 2021; 16(10):e0258777. PubMed ID: 34669720
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).
    Schmuth M; Fluhr JW; Crumrine DC; Uchida Y; Hachem JP; Behne M; Moskowitz DG; Christiano AM; Feingold KR; Elias PM
    J Invest Dermatol; 2004 Apr; 122(4):909-22. PubMed ID: 15102081
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.