Results 141 to 150 of about 77,152 (265)

A Case Report of Ichthyosis Lamellar Syndrome

پزشکی بالینی ابن سینا, 2014
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi, Bita Sharafi, Hasan Faghani   +2 more
doaj  

How Small Polar Molecules Protect Membrane Systems against Osmotic Stress: The Urea−Water−Phospholipid System [PDF]

, 1994
We investigate how a small polar molecule, urea, can act to protect a phospholipid bilayer system against osmotic stress. Osmotic stress can be caused by a dry environment, by freezing, or by exposure to aqueous systems with high osmotic pressure due ...
Costa-Balogh, Fátima O., Wennerström, Hakan, Wadsö, Lars, Sparr, Emma   +3 more
core   +1 more source

A CASE REPORT: LAMELLAR ICHTHYOSIS

, 2017
Vineeth Reddy G, Anila Reddy T, Sharvana Bhava B.S   +2 more
openalex   +1 more source

Lamellar Ichthyosis in a Female Neonate with a Novel Mutation on TGM1 Gene [PDF]

, 2022
Ana Francisca Henriques Cardoso, Flávia Belinha, Ana Ratola, Raquel Henriques   +3 more
openalex   +1 more source

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR 9C7

, 2017
Takuya Takeichi, Toshifumi Nomura, Hiroyuki Takama, Michihiro Kono, Kazumitsu Sugiura, Daisuke Watanabe, Hiroshi Shimizu, Michael A. Simpson, John A. McGrath, Masashi Akiyama   +9 more
openalex   +2 more sources

Cholesterol 3-Sulfate Interferes with Cornified Envelope Assembly by Diverting Transglutaminase 1 Activity from the Formation of Cross-links and Esters to the Hydrolysis of Glutamine [PDF]

, 2021
Demény, Máté Ágoston, Fésüs, László, Marekov, Lyuben N., Nemes, Zoltán, Steinert, Peter M.   +4 more
core   +1 more source

Lamellar Ichthyosis [PDF]

, 2020
openaire   +3 more sources

Quality of life, emollients and hydrating agents. [PDF]

, 2006
peer reviewedSo-called dry skin is a quite common and annoying condition. This skin may affect individuals that are otherwise healthy. It may be particularly severe and unpleasant in cases of ichthyosis, atopic dermatitis or psoriasis.
Haubrechts, C., Pierard, Claudine, Pierard, Gérald, Xhauflaire, Emmanuelle   +3 more
core  

Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report

Iranian Journal of Public Health, 2015
Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI ...
Mohammad Taghi AKBARI, Mojgan ATAEI-KACHOUI   +1 more
doaj  

Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder. [PDF]

Saudi J Ophthalmol, 2020
Bhedasgaonkar SS, Nadkarni SU.
europepmc   +1 more source