| Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. | Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.
Rossel SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, van Maarle MC, Vreeburg M, Bolling MC, van Geel M, Gostyński A. | 12/1/2023 |
| Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. | 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., Free PMC Article | 11/27/2021 |
| Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families. | Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
Akbar A, Bint-E-Farrakh M, Crosby AH, Gul A, Harlalka GV. | 06/19/2021 |
| Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity. | Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.
Laadhar S, Ben Mansour R, Marrakchi S, Miled N, Ennouri M, Fischer J, Kaddechi MA, Turki H, Fakhfakh F., Free PMC Article | 04/3/2021 |
| Results identified 16 novel mutations in NIPAL4 in a large cohort of families with autosomal recessive congenital ichthyosis (ARCI) and increase the total number of pathogenic mutations to 34. | 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. | 05/9/2020 |
| NIPAL4 mutations are associated with Ichthyotic Phenotype. | 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., Free PMC Article | 07/6/2019 |
| Case Report: novel NIPAL4 mutation in Japanese female with ichthyosiform erythroderma. | A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin.
Kusakabe M, Nagai M, Nakano E, Jitsukawa O, Nishigori C, Yamanishi K. | 03/25/2017 |
| We have identified a novel NIPAL4 mutation in two patients from Romania with autosomal recessive congenital ichthyosis. | Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.
Maier D, Mazereeuw-Hautier J, Tilinca M, Cosgarea R, Jonca N. | 01/14/2017 |
| FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function | 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. | 09/28/2013 |
| Autosomal recessive congenital ichthyosis patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX and eLOX-3 staining and a colocalization signal of these lipoxygenases that was three times the normal intensity. | 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. | 02/16/2013 |
| combined findings indicate that ichthyin is associated with keratins and desmosomes in epidermis and is involved in lipid metabolism, possibly through processing of lamellar bodies | Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.
Dahlqvist J, Westermark GT, Vahlquist A, Dahl N. | 12/22/2012 |
| diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation | 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. | 07/28/2012 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Polymorphisms in innate immunity genes and risk of childhood leukemia.
Han S, Lan Q, Park AK, Lee KM, Park SK, Ahn HS, Shin HY, Kang HJ, Koo HH, Seo JJ, Choi JE, Ahn YO, Chanock SJ, Kim H, Rothman N, Kang D., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesRisk of meningioma and common variation in genes related to innate immunity.
Rajaraman P, Brenner AV, Neta G, Pfeiffer R, Wang SS, Yeager M, Thomas G, Fine HA, Linet MS, Rothman N, Chanock SJ, Inskip PD. Common variation in genes related to innate immunity and risk of adult glioma.
Rajaraman P, Brenner AV, Butler MA, Wang SS, Pfeiffer RM, Ruder AM, Linet MS, Yeager M, Wang Z, Orr N, Fine HA, Kwon D, Thomas G, Rothman N, Inskip PD, Chanock SJ. | 06/30/2010 |
| A recurrent missense mutation, p.A176D, was identified in individuals with autosomal recessive ichthyosis. | 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., Free PMC Article | 04/19/2010 |
| The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis. | Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole.
Pavez Loriè E, Gånemo A, Borgers M, Wouters L, Blockhuys S, van de Plassche L, Törmä H, Vahlquist A. | 01/21/2010 |
| mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis | 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 Jr, Gånemo A, Vahlquist A, Dahl N., Free PMC Article | 01/21/2010 |
| Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in patients with autosomal recessive congenital ichthyosis (ichthyin). | Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J. | 01/21/2010 |