Page last updated: 2024-10-21

1-anilino-8-naphthalenesulfonate and Congenital Ichthyosiform Erythroderma

1-anilino-8-naphthalenesulfonate has been researched along with Congenital Ichthyosiform Erythroderma in 18 studies

1-anilino-8-naphthalenesulfonate: RN given refers to parent cpd
8-anilinonaphthalene-1-sulfonic acid : A naphthalenesulfonic acid that is naphthalene-1-sulfonic acid substituted by a phenylamino group at position 8.

Research Excerpts

ExcerptRelevanceReference
"Three major ARCI phenotypes are harlequin ichthyosis (HI), lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma (CIE)."2.52Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. ( Akiyama, M; Sugiura, K, 2015)

Research

Studies (18)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (5.56)18.2507
2000's2 (11.11)29.6817
2010's12 (66.67)24.3611
2020's3 (16.67)2.80

Authors

AuthorsStudies
Hake, L1
Süßmuth, K1
Komlosi, K1
Kopp, J1
Drerup, C1
Metze, D1
Traupe, H1
Hausser, I1
Eckl, KM1
Hennies, HC1
Fischer, J2
Oji, V1
Chiramel, MJ1
Mathew, L1
Athirayath, R1
Chapla, A1
Sathishkumar, D1
Mani, T1
Danda, S1
George, R1
Yamada, K1
Yaguchi, H1
Abe, M1
Ishikawa, K1
Tanaka, D1
Oshima, Y1
Kudo, A1
Uwatoko, H1
Shirai, S1
Takahashi-Iwata, I1
Matsushima, M1
Nishino, I1
Yabe, I1
Pennisi, EM1
Arca, M2
Bertini, E1
Bruno, C2
Cassandrini, D2
D'amico, A1
Garibaldi, M1
Gragnani, F1
Maggi, L1
Massa, R1
Missaglia, S1
Morandi, L1
Musumeci, O1
Pegoraro, E1
Rastelli, E1
Santorelli, FM2
Tasca, E1
Tavian, D1
Toscano, A1
Angelini, C1
Brown, AL1
Mark Brown, J1
Tan, J1
Yang, H1
Fan, J1
Fan, Y1
Xiao, F1
Ohno, Y1
Nara, A1
Nakamichi, S1
Kihara, A1
Schrammel, A1
Mussbacher, M1
Winkler, S1
Haemmerle, G1
Stessel, H1
Wölkart, G1
Zechner, R1
Mayer, B1
Perrin, L1
Féasson, L1
Furby, A1
Laforêt, P1
Petit, FM1
Gautheron, V1
Chabrier, S1
Sugiura, K1
Akiyama, M1
Xie, M1
Roy, R1
Ahmad, F1
Ansar, M1
Mehmood, S2
Izoduwa, A1
Lee, K1
Nasir, A1
Abrar, M1
Ullah, A1
Aziz, A1
Smith, JD1
Shendure, J1
Bamshad, MJ1
Nicekrson, DA1
Santos-Cortez, RL1
Leal, SM1
Ahmad, W1
Lee, E1
Rahman, OU1
Khan, MT1
Wadood, A1
Naeem, M1
Kang, C1
Jelani, M1
Reilich, P1
Horvath, R1
Krause, S1
Schramm, N1
Turnbull, DM1
Trenell, M1
Hollingsworth, KG1
Gorman, GS1
Hans, VH1
Reimann, J1
MacMillan, A1
Turner, L1
Schollen, A1
Witte, G1
Czermin, B1
Holinski-Feder, E1
Walter, MC1
Schoser, B1
Lochmüller, H1
Fiorillo, C1
Brisca, G1
Scapolan, S1
Astrea, G1
Valle, M1
Scuderi, F1
Trucco, F1
Natali, A1
Magnano, G1
Gazzerro, E1
Minetti, C1
Pujol, RM1
Gilaberte, M1
Toll, A1
Florensa, L1
Lloreta, J1
González-Enseñat, MA1
Azon, A1
Demerjian, M1
Crumrine, DA1
Milstone, LM1
Williams, ML2
Elias, PM2
Menon, GK1
Ghadially, R1

Reviews

2 reviews available for 1-anilino-8-naphthalenesulfonate and Congenital Ichthyosiform Erythroderma

ArticleYear
Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond.
    Biochimica et biophysica acta. Molecular and cell biology of lipids, 2017, Volume: 1862, Issue:10 Pt B

    Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Animals; Energy Metabolism; Humans; Hydrolysis; Ichthy

2017
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
    Journal of dermatological science, 2015, Volume: 79, Issue:1

    Topics: Arachidonate 12-Lipoxygenase; ATP-Binding Cassette Transporters; Cytochrome P-450 Enzyme System; Gen

2015

Other Studies

16 other studies available for 1-anilino-8-naphthalenesulfonate and Congenital Ichthyosiform Erythroderma

ArticleYear
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.
    Journal of the European Academy of Dermatology and Venereology : JEADV, 2022, Volume: 36, Issue:4

    Topics: Acyltransferases; Genes, Recessive; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Icht

2022
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
    Pediatric dermatology, 2022, Volume: 39, Issue:3

    Topics: Acyltransferases; Fatty Acid Transport Proteins; Genes, Recessive; Genotype; Humans; Ichthyosiform E

2022
Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
    Clinical neurology and neurosurgery, 2023, Volume: 228

    Topics: Acyltransferases; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; Lipid Metabolism, Inborn E

2023
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
    Orphanet journal of rare diseases, 2017, 05-12, Volume: 12, Issue:1

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Cross-Sectional Studies; Female; Genetic Association Stu

2017
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.
    Clinical neurology and neurosurgery, 2018, Volume: 168

    Topics: Adult; Asian People; Biopsy; China; Female; Humans; Ichthyosiform Erythroderma, Congenital; Lipase;

2018
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.
    Journal of dermatological science, 2018, Volume: 92, Issue:3

    Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Ceramides; Endoplasmic Reticulum; HEK293 Cells; HeLa C

2018
Cardiac oxidative stress in a mouse model of neutral lipid storage disease.
    Biochimica et biophysica acta, 2013, Volume: 1831, Issue:11

    Topics: Animals; Blotting, Western; Disease Models, Animal; Ichthyosiform Erythroderma, Congenital; Lipase;

2013
PNPLA2 mutation: a paediatric case with early onset but indolent course.
    Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:12

    Topics: Biopsy; Child, Preschool; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; Lipid Metabolism,

2013
The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans.
    PLoS genetics, 2015, Volume: 11, Issue:6

    Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Amino Acid Sequence; Animals; Caenorhabditis elegans;

2015
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
    Journal of the European Academy of Dermatology and Venereology : JEADV, 2016, Volume: 30, Issue:12

    Topics: Amino Acid Sequence; Consanguinity; Female; Genes, Recessive; Humans; Ichthyosiform Erythroderma, Co

2016
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
    Journal of dermatological science, 2016, Volume: 82, Issue:1

    Topics: Codon, Nonsense; DNA Mutational Analysis; Exome; Genes, Recessive; Genetic Association Studies; Gene

2016
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
    Journal of neurology, 2011, Volume: 258, Issue:11

    Topics: Adult; DNA Mutational Analysis; Female; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; Lipi

2011
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
    Biochemical and biophysical research communications, 2013, Jan-04, Volume: 430, Issue:1

    Topics: Adolescent; Amino Acid Sequence; Humans; Ichthyosiform Erythroderma, Congenital; Lipase; Lipid Metab

2013
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.
    The British journal of dermatology, 2005, Volume: 153, Issue:4

    Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Child, Preschool; Esterases; Humans; Ichthyosiform Ery

2005
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).
    The Journal of investigative dermatology, 2006, Volume: 126, Issue:9

    Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adult; Child; Epidermis; Esterases; Family Health; Fem

2006
Lamellar bodies as delivery systems of hydrolytic enzymes: implications for normal and abnormal desquamation.
    The British journal of dermatology, 1992, Volume: 126, Issue:4

    Topics: Animals; Desmosomes; Epidermal Cells; Epidermis; Extracellular Space; Histocytochemistry; Humans; Ic

1992