Results 91 to 100 of about 5,642 (200)
Biological functionalities of Transglutaminase 2 and the possibility of its compensation by other members of the transglutaminase family [PDF]
, 2014 Transglutaminase 2 (TG2) is the most widely distributed and most abundantly expressed member of the transglutaminase family of enzymes, a group of intracellular and extracellular proteins that catalyze the Ca2+-dependent post-translational modification ...
Coussons, Peter J., Odii, Benedict O.
core +4 more sources
Oral acitretin treatment in severe congenital ichthyosis of the neonate
The Turkish Journal of Pediatrics, 2002 Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day).
Z Nurhan Saraçoğlu +4 more
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Mutations in TGM6 induce the unfolded protein response in SCA35 [PDF]
, 2017 Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, which codes for transglutaminase 6 (TG6). Mutations in TG6 induce cerebellar degeneration by an unknown mechanism.
Aeschlimann, Daniel +16 more
core +2 more sources
Ichthyosis associated with rickets in two Indian children
Indian Journal of Dermatology, 2013 We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari +3 more
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Long and very long lamellar phases in model stratum corneum lipid membranes
Journal of Lipid Research, 2019 Membrane models of the stratum corneum (SC) lipid barrier, either healthy or affected by recessive X-linked ichthyosis, constructed from ceramide [Cer; nonhydroxyacyl sphingosine N-tetracosanoyl-d-erythro-sphingosine (CerNS24) alone or with omega-O ...
Petra Pullmannová +7 more
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Oral manifestations of lamellar ichthyosis: A rare case report
Indian Journal of Paediatric Dermatology, 2016 The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders that present at birth with the generalized involvement of skin without ...
Keerthi K Nair, G S Kodhandram
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Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature
Medical Journal of Dr. D.Y. Patil University, 2015 Lamellar ichthyosis (LI), is a rare genodermatoses, that appears at birth and continues throughout a person's life with an autosomal recessive mode of inheritance.
Sonia P Jain
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Lamellar ichthyosis (collodian baby) with severe bilateral ectropion
Indian Journal of Ophthalmology, 1988 A case of lamellar ichthyosis (collodian baby), is being reported. Skin biopsy has confirmed the diagnosis. Severe bilateral ectropion of thee eyelids was the prominent feature. Management of such cases has been briefly discussed.
Boparai M, Dash R, Sohi B
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Frontiers in Pediatrics, 2019 Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body.
Sami Raja Alallasi +11 more
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Indian Journal of Paediatric DermatologyObjective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta +4 more
doaj +1 more source