Results 31 to 40 of about 50,551 (154)
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
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
Abnormal Lamellar Granules in Harlequin Ichthyosis [PDF]
, 1992 Lamellar granules are specialized lipid-rich organelles present in epidermal granular cells. They fuse with the apical cell surface and discharge their contents into the intercellular space forming lamellar sheets.
Milner, Martha E +3 more
core +1 more source
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
The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada +8 more
wiley +1 more source
Evaluation of interface quality in organ-cultured lamellar corneal transplants [PDF]
, 2012 Background: With increasing numbers of lamellar keratoplasties, eye banks are challenged to deliver precut lamellar donor tissue. In Europe, the most common technique of corneal storage is organ culture which requires a deswelling process before surgical
Kohnen, Thomas +7 more
core +1 more source