Results 31 to 40 of about 50,601 (205)
Lamellar Ichthyosis Is Genetically Heterogeneous–Cases with Normal Keratinocyte Transglutaminase [PDF]
, 1995 We recently identified mutations of the keratinocyte transglutaminase gene as a cause of lamellar ichthyosis. In this study we analyzed two sporadic cases of lamellar ichthyosis.
Rettler, Irmingard +4 more
core +1 more source
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
Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis [PDF]
, 1998 SummaryAutosomal recessive lamellar ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns.
Wiebe, V. +9 more
core +1 more source
Lamellar Ichthyosis: Long-Term Graft Studies On Congenitally Athymic Nude Mice [PDF]
, 1976 Whole-skin grafts from a patient with lamellar ichthyosis were maintained on athymic nude mice for periods of 6 weeks to 4 months with excellent preservation of all gross and histologic features of the disease.
Wheeler, Clayton E. +1 more
core +1 more source
Dermatodendrosophy and dermatokarposophy – A bird's eye view
Clinical Dermatology Review, 2022 Dermatodendrosophy is defined to describe the relation between dermatology and the trees whereas Dermatokarposophy describes the connection between dermatology and fruits.
Anil Harishchandra Patki +1 more
doaj +1 more source
Indian Journal of Ophthalmology, 2020 Ichthyosis is a rare inherited skin disorder characterized by abnormal keratinization of the epidermis. Cicatricial ectropion is the most common ophthalmic feature of congenital ichthyosis.
Nirmala Subramanian +2 more
doaj +1 more source
ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]
Anim GenetAbstract Ichthyoses are a heterogenous group of inherited disorders that are characterized by excessive scale formation on the skin. We investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic.
Vinberg C +5 more
europepmc +2 more sources
BioEssays, Volume 48, Issue 8, August 2026.FLOWER (FWE) is a small alternatively spliced transmembrane protein whose conserved four‐transmembrane topology enables interaction with trafficking machinery and membrane phospholipids. Initially characterized by synaptic vesicle endocytosis, FWE is now recognized as a critical mediator of endo‐lysosome related organelle trafficking across diverse ...
Justin C. Rudd, Laura A. Hansen
wiley +1 more source
Bilateral ectropion in a 3 months old baby with lamellar ichthyosis: a rare case report [PDF]
, 2017 Ichthyosiform dermatoses are a group of hereditary disorders characterized by dryness and roughness of the skin with excessive accumulation of epidermal scales.
Kumar, Sweta S. +3 more
core +1 more source
Bilateral Congenital Upper Eyelid Eversion in Neonates with Lamellar Ichthyosis
TNOA Journal of Ophthalmic Science and ResearchBackground: Bilateral congenital upper eyelid eversion is a rare but visually alarming condition that presents at birth and is often associated with systemic disorders such as lamellar ichthyosis.
Sangameshwarayya B. Salimath +2 more
doaj +1 more source