1-anilino-8-naphthalenesulfonate has been researched along with Ichthyosis, Lamellar in 22 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.
Ichthyosis, Lamellar: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Three major ARCI phenotypes are harlequin ichthyosis (HI), lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma (CIE)." | 2.52 | Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. ( Akiyama, M; Sugiura, K, 2015) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (13.64) | 29.6817 |
| 2010's | 12 (54.55) | 24.3611 |
| 2020's | 7 (31.82) | 2.80 |
| Authors | Studies |
|---|---|
| Hake, L | 1 |
| Süßmuth, K | 1 |
| Komlosi, K | 1 |
| Kopp, J | 1 |
| Drerup, C | 1 |
| Metze, D | 1 |
| Traupe, H | 1 |
| Hausser, I | 3 |
| Eckl, KM | 1 |
| Hennies, HC | 1 |
| Fischer, J | 4 |
| Oji, V | 2 |
| Chiramel, MJ | 1 |
| Mathew, L | 1 |
| Athirayath, R | 1 |
| Chapla, A | 1 |
| Sathishkumar, D | 1 |
| Mani, T | 1 |
| Danda, S | 1 |
| George, R | 1 |
| Nohara, T | 1 |
| Ohno, Y | 1 |
| Kihara, A | 1 |
| Li, H | 2 |
| Qian, LJ | 1 |
| Xu, N | 1 |
| Huang, L | 1 |
| Qiao, LX | 1 |
| Meyer, JM | 1 |
| Boeglin, WE | 1 |
| Brash, AR | 1 |
| Qiao, L | 1 |
| Pichery, M | 1 |
| Huchenq, A | 1 |
| Sandhoff, R | 1 |
| Severino-Freire, M | 1 |
| Zaafouri, S | 1 |
| Opálka, L | 1 |
| Levade, T | 1 |
| Soldan, V | 1 |
| Bertrand-Michel, J | 1 |
| Lhuillier, E | 1 |
| Serre, G | 1 |
| Maruani, A | 1 |
| Mazereeuw-Hautier, J | 1 |
| Jonca, N | 1 |
| Dereure, O | 1 |
| Diociaiuti, A | 1 |
| Pisaneschi, E | 1 |
| Zambruno, G | 1 |
| Angioni, A | 1 |
| Novelli, A | 1 |
| Boldrini, R | 1 |
| El Hachem, M | 1 |
| Dökmeci-Emre, S | 1 |
| Taşkıran, ZE | 1 |
| Yüzbaşıoğlu, A | 1 |
| Önal, G | 2 |
| Akarsu, AN | 1 |
| Karaduman, A | 2 |
| Özgüç, M | 1 |
| Kutlu, O | 1 |
| Ozer, E | 1 |
| Gozuacik, D | 1 |
| Dokmeci Emre, S | 1 |
| Karim, N | 1 |
| Ullah, A | 1 |
| Murtaza, G | 1 |
| Naeem, M | 1 |
| Esperón-Moldes, U | 1 |
| Ginarte Val, M | 1 |
| Rodríguez-Pazos, L | 2 |
| Fachal, L | 2 |
| Azaña, JM | 1 |
| Barberá Fons, M | 1 |
| Viejo Diaz, M | 1 |
| Vega, A | 2 |
| Simpson, JK | 1 |
| Martinez-Queipo, M | 1 |
| Onoufriadis, A | 1 |
| Tso, S | 1 |
| Glass, E | 1 |
| Liu, L | 1 |
| Higashino, T | 1 |
| Scott, W | 1 |
| Tierney, C | 1 |
| Simpson, MA | 1 |
| Desomchoke, R | 1 |
| Youssefian, L | 2 |
| SaeIdian, AH | 2 |
| Vahidnezhad, H | 2 |
| Bisquera, A | 1 |
| Ravenscroft, J | 1 |
| Moss, C | 1 |
| O'Toole, EA | 1 |
| Burrows, N | 1 |
| Leech, S | 1 |
| Jones, EA | 1 |
| Lim, D | 1 |
| Ilchyshyn, A | 1 |
| Goldstraw, N | 1 |
| Cork, MJ | 1 |
| Darne, S | 1 |
| Uitto, J | 2 |
| Martinez, AE | 1 |
| Mellerio, JE | 1 |
| McGrath, JA | 1 |
| Ginarte, M | 1 |
| Carracedo, A | 1 |
| Toribio, J | 1 |
| Sugiura, K | 1 |
| Akiyama, M | 2 |
| Zeinali, S | 1 |
| Mansouri, P | 1 |
| Sotoudeh, S | 1 |
| Barzegar, M | 1 |
| Mohammadi-Asl, J | 1 |
| Karamzadeh, R | 1 |
| Abiri, M | 1 |
| McCormick, K | 1 |
| Fortina, P | 1 |
| Zimmer, AD | 1 |
| Kim, GJ | 2 |
| Hotz, A | 1 |
| Bourrat, E | 2 |
| Has, C | 1 |
| Stieler, K | 1 |
| Vahlquist, A | 1 |
| Kunde, V | 1 |
| Weber, B | 1 |
| Radner, FPW | 1 |
| Leclerc-Mercier, S | 1 |
| Schlipf, N | 1 |
| Demmer, P | 1 |
| Küsel, J | 1 |
| Sakai, K | 1 |
| Takayama, C | 1 |
| Yanagi, T | 1 |
| Yamanaka, Y | 1 |
| McMillan, JR | 1 |
| Shimizu, H | 1 |
| Yamaguchi, T | 1 |
| Osumi, T | 1 |
| Grall, A | 1 |
| Guaguère, E | 1 |
| Planchais, S | 1 |
| Grond, S | 1 |
| Hitte, C | 1 |
| Le Gallo, M | 1 |
| Derbois, C | 1 |
| Lagoutte, L | 1 |
| Degorce-Rubiales, F | 1 |
| Radner, FP | 1 |
| Thomas, A | 1 |
| Küry, S | 1 |
| Bensignor, E | 1 |
| Fontaine, J | 1 |
| Pin, D | 1 |
| Zimmermann, R | 1 |
| Zechner, R | 1 |
| Lathrop, M | 1 |
| Galibert, F | 1 |
| André, C | 1 |
| Schleinitz, N | 1 |
| Sanchez, A | 1 |
| Veit, V | 1 |
| Harle, JR | 1 |
| Pelissier, JF | 1 |
2 reviews available for 1-anilino-8-naphthalenesulfonate and Ichthyosis, Lamellar
| Article | Year |
|---|---|
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
Topics: Arachidonate 12-Lipoxygenase; ATP-Binding Cassette Transporters; Cytochrome P-450 Enzyme System; Gen | 2015 |
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adipocytes; Carrier Proteins; Enzyme Activation; Fatty | 2009 |
20 other studies available for 1-anilino-8-naphthalenesulfonate and Ichthyosis, Lamellar
| Article | Year |
|---|---|
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.
Topics: Acyltransferases; Genes, Recessive; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Icht | 2022 |
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Topics: Acyltransferases; Fatty Acid Transport Proteins; Genes, Recessive; Genotype; Humans; Ichthyosiform E | 2022 |
Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Acyltransferases; Ceramides; Humans; Ichthyosis; Ichth | 2022 |
Novel Pathogenic Mutation of
Topics: Acyltransferases; Ceramides; Collodion; Humans; Ichthyosis, Lamellar; Infant, Newborn; Lipase; Mutat | 2022 |
Recombinant PNPLA1 catalyzes the synthesis of acylceramides and acyl acids with selective incorporation of linoleic acid.
Topics: Acyltransferases; Ceramides; Epidermis; Humans; Ichthyosis, Lamellar; Linoleic Acid; Lipase; Phospho | 2023 |
[Analysis of PNPLA1 gene mutation in a child with ichthyosis].
Topics: Child; Female; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Ichthyosis, Lamellar; Li | 2020 |
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.
Topics: Aged; Animals; Ceramides; Child; Epidermis; Extracellular Matrix; Female; Genes, Recessive; Humans; | 2017 |
[PNPLA1 mutations in autosomal recessive congenital ichtyosis].
Topics: Animals; Dog Diseases; Dogs; Genes, Recessive; Genetic Association Studies; Humans; Ichthyosis, Lame | 2017 |
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.
Topics: Child, Preschool; Female; Genes, Recessive; Humans; Ichthyosis, Lamellar; Italy; Lipase; Mutation, M | 2018 |
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.
Topics: Child; Child, Preschool; Consanguinity; Female; Humans; Ichthyosis, Lamellar; Infant; Infant, Newbor | 2017 |
Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients.
Topics: Autophagosomes; Autophagy; Biopsy; Fibroblasts; Genes, Recessive; Humans; Ichthyosis, Lamellar; Lipa | 2019 |
Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.
Topics: Adult; Aged; Codon, Nonsense; Ethnicity; Exome Sequencing; Family; Female; Genes, Recessive; Humans; | 2019 |
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Female; Founder Effect; Genetic Predisposition to Diseas | 2019 |
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Topics: Adolescent; ATP-Binding Cassette Transporters; Child; Child, Preschool; England; Fatty Acid Transpor | 2020 |
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
Topics: Adolescent; Adult; Female; Heterozygote; Homozygote; Humans; Ichthyosis, Lamellar; Lipase; Male; Mut | 2014 |
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Topics: Adolescent; Adult; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Female; Genes, R | 2017 |
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Diagnosis, Differential; DNA Mu | 2017 |
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Animals; Antibodies; Biological Transport; Brain; Cell | 2008 |
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Topics: Adult; Animals; Base Sequence; Cells, Cultured; Codon, Nonsense; Dermatologic Agents; Dogs; Female; | 2012 |
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
Topics: 1-Acylglycerol-3-Phosphate O-Acyltransferase; Adult; Age Factors; Biopsy, Needle; Esterases; Follow- | 2005 |