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Journal Abstract Search

142 related items for PubMed ID: 36715754

  • 1. PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
    Shamseldin HE, Derar N, Alzaidan H, AlHathal N, Alfalah A, Abdulwahab F, Alzaid T, Alkeraye S, Alobaida SA, Alkuraya FS.
    Hum Genet; 2023 Apr; 142(4):477-482. PubMed ID: 36715754
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  • 2. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
    Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W.
    Eur J Dermatol; 2018 Apr 01; 28(2):209-216. PubMed ID: 29611532
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  • 3. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
    Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M.
    Am J Hum Genet; 2007 Mar 01; 80(3):467-77. PubMed ID: 17273967
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  • 6. Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.
    Fozia F, Nazli R, Alam Khan S, Bari A, Nasir A, Ullah R, Mahmood HM, Sohaib M, Alobaid A, Ansari SA, Basit S, Khan S.
    Genes (Basel); 2021 Mar 05; 12(3):. PubMed ID: 33807935
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  • 9. The membrane-anchored serine protease prostasin (CAP1/PRSS8) supports epidermal development and postnatal homeostasis independent of its enzymatic activity.
    Peters DE, Szabo R, Friis S, Shylo NA, Uzzun Sales K, Holmbeck K, Bugge TH.
    J Biol Chem; 2014 May 23; 289(21):14740-9. PubMed ID: 24706745
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  • 11. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
    Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt J, van Marle J, Shohat M, Basel-Vanagaite L.
    Clin Genet; 2008 Jul 23; 74(1):47-53. PubMed ID: 18445049
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  • 13. Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
    Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E.
    Am J Med Genet A; 2022 Oct 23; 188(10):2879-2887. PubMed ID: 35920354
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  • 14. Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
    Youssefian L, Khodavaisy S, Khosravi-Bachehmir F, Park JS, Saeidian AH, Mahmoudi H, Saffarian Z, Naraghi ZS, Kamyab-Hesari K, Zeinali S, Vahidnezhad H, Uitto J.
    J Eur Acad Dermatol Venereol; 2022 Mar 23; 36(3):472-479. PubMed ID: 34863005
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  • 16. DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.
    Häfliger IM, Koch CT, Michel A, Rüfenacht S, Meylan M, Welle MM, Drögemüller C.
    BMC Vet Res; 2022 Jan 07; 18(1):20. PubMed ID: 34996433
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  • 17. Loss of HAI-2 in mice with decreased prostasin activity leads to an early-onset intestinal failure resembling congenital tufting enteropathy.
    Szabo R, Bugge TH.
    PLoS One; 2018 Jan 07; 13(4):e0194660. PubMed ID: 29617460
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