Results 31 to 40 of about 11,448 (231)

Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

Pifu-xingbing zhenliaoxue zazhi, 2023
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG   +3 more
doaj   +1 more source

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis

Clinical Case Reports, 2020
Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.
Francesca Caroppo, Elena Cama, Roberto Salmaso, Cinzia Bertolin, Leonardo Salviati, Anna Belloni Fortina   +5 more
doaj   +1 more source

Report of an autosomal recessive epidermolytic ichthyosis

Indian Journal of Paediatric Dermatology, 2020
Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized
K S Chandan, S R Ashitha, Sachin Somashekhar, L Shishira   +3 more
doaj   +1 more source

Bullying in Children With Congenital Ichthyosis. [PDF]

Pediatr Dermatol
ABSTRACT Background/Objectives Bullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Rustad AM, Soltani H, Yang LJ, McKenney JE, Ren Z, Rangel SM, Paller AS.   +6 more
europepmc   +2 more sources

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms [PDF]

, 2015
Research on iRHOM2 in the Kelsell group is funded by an MRC project grant, a MRC Clinical Fellowship (to TM) and a Cancer Research UK program ...
A Ellis, AB Varela, AE Field, Anthony Ellis, C Adrain, C Scott, CA Souza De, CR Leemans, David P. Kelsell, DC Blaydon, DC Blaydon, DP Kelsell, H Smart, HC Hennies, HP Stevens, Janet M. Risk, L Hong, M Knöbel, M Zettl, MA Brooke, MA Brooke, MT Ashworth, PH Itin, PS Harper, S Saarinen, T Maruthappu, Thiviyani Maruthappu, W Howel-Evans, WR Tyldesley   +28 more
core   +1 more source

Intermediate filament–membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength [PDF]

, 2002
By tethering intermediate filaments (IFs) to sites of intercellular adhesion, desmosomes facilitate formation of a supercellular scaffold that imparts mechanical strength to a tissue.
Amargo, Evangeline V., Bannon, Leslie J., Chen, Xuejun, Godsel, Lisa M., Green, Kathleen J., Gumbiner, Barry M., Hudson, Tracie Y., Huen, Arthur C., Kelsell, David P., Leigh, Irene M., Mongiu, Anne K., Park, Jung K.   +11 more
core   +5 more sources

Epidermolytic Acanthoma Mimicking Condyloma: A Case Report

Dermatopathology, 2019
Epidermolytic acanthoma is a rare benign tumor that appears as a solitary papule or, rarely, multiple small papules on the trunk and extremities, or on genitalia. They are generally asymptomatic, although they can be pruritic.
Amandine Dupont, Hélène Marescassier, Gürkan Kaya   +2 more
doaj   +1 more source

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C., Blume-Peytavi, Ulrike, Bourrat, Emmanuelle, Fischer, Judith, Hotz, Alrun, Jonca, Nathalie, Markus, Susanne, Mazereeuw-Hautier, Juliette, Morice-Picard, Fanny, Oji, Vmzenz, Schlipf, Nina, Schoenbuchner, Ines, Stieler, Karola   +12 more
core   +3 more sources

Bilateral systematized epidermolytic verrucous epidermal nevus: A rare entity

Indian Journal of Dermatology, 2015
Verrucous epidermal nevi are congenital, noninflammatory cutaneous hamartomas composed of keratinocytes. They follow the lines of Blaschko and show hyperkeratosis without cellular atypia.
Vivek Mishra, Abanti Saha, Debabrata Bandyopadhyay, Anirban Das   +3 more
doaj   +1 more source

Transgenic models of skin diseases [PDF]

, 1993
Background: Transgenic animals have greatly enhanced our understanding of the contribution of various structural and regulatory components to epidermal biology. The expression of mutant versions of these components in the epidermis of transgenic mice has
Bickenbach, Jackie R., Dominey, Andrea M., Greenhalgh, David A., Roop, Dennis R., Rothnagel, Joseph A., Sellheyer, Klaus, Wang, Xiao-Jing   +6 more
core   +1 more source