Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]
, 2012 Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Annicchiarico-Petruzzelli, M +12 more
core +1 more source
Distinguishing ichthyoses by protein profiling.
PLoS ONE, 2013 To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics.
Robert H Rice +7 more
doaj +1 more source
Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]
, 2015 Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo +7 more
core +2 more sources
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). [PDF]
, 1991 The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with ...
Goeteyn, M. (M.) +4 more
core +1 more source
Collodion Baby: A Clinical Enigma [PDF]
Indian Journal of Neonatal Medicine and Research, 2019 Collodion baby is a term used for neonates in whom the body surface is covered by thick skin sheets, appearing like a translucent, tight parchment paper.
Sonam Singh +4 more
doaj +1 more source
Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient
Case Reports in Dentistry, 2014 Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar +5 more
doaj +1 more source
Lamellar Icthyosis – A case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V +3 more
doaj +1 more source
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
core +3 more sources
Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Dermatologica Sinica, 2018 Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák +4 more
doaj +1 more source
A distal region of the human TGM1 promoter is required for expression in transgenic mice and cultured keratinocytes [PDF]
, 2004 BackgroundTGM1(transglutaminase 1) is an enzyme that crosslinks the cornified envelope of mature keratinocytes. Appropriate expression of the TGM1 gene is crucial for proper keratinocyte function as inactivating mutations lead to the debilitating skin ...
CS Greenberg +45 more
core +1 more source