Results 51 to 60 of about 31,665 (304)

A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]

, 2019
Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano, Carrer, Andrea, Chiani, Francesco, Kuang, Yuanyuan, Lerner, Richard A, Mammano, Fabio, Nardin, Chiara, Paludetti, Gaetano, Salvatore, Anna Maria, Xu, Liang, Yang, Guang, Ziraldo, Gaia, Zonta, Francesco   +12 more
core   +1 more source

Ichthyosis hystrix

Indian Dermatology Online Journal, 2013
The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities. It was suggestive of ichthyosis hystrix type of epidermal nevus,and is being reported in view of the rarity of this condition.
Surajit Nayak, Basanti Acharjya, Prasenjit Mohanty   +2 more
openaire   +3 more sources

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +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, A. Torrelo-Fernández, A. Vega, F. Casco, F. Larcher, H. Traupe, I. Arroyo, J.L. Pedreira-Massa, P. de Unamuno-Pérez, R. de Lucas-Laguna, R. González-Sarmiento   +10 more
core   +3 more sources

A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis [PDF]

, 2012
Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant
Beier, David R., Harrison, Wilbur, Koster, Maranke I., Moran, Jennifer L., Overbeek, Paul A., Roop, Dennis R., Tao, Jianning   +6 more
core   +11 more sources

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2020
Ichthyoses are a heterogeneous disease group, which makes clinical classification challenging. An ichthyosis cohort at a center for genodermatoses is presented in detail.
Magdalena Seidl-Philipp, Ulrich A. Schatz, Irina Gasslitter, V. Moosbrugger-Martinz, S. Blunder, A. Schossig, J. Zschocke, M. Schmuth, R. Gruber   +8 more
semanticscholar   +1 more source

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

BMC Medical Genomics, 2022
Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms.
Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer   +8 more
doaj   +1 more source

The pH of the skin surface and its impact on the barrier function [PDF]

, 2006
The `acid mantle' of the stratum corneum seems to be important for both permeability barrier formation and cutaneous antimicrobial defense. However, the origin of the acidic pH, measurable on the skin surface, remains conjectural.
Abeck D, Barel AO, Blank HI, Bouwstra JA, Braun-Falco O, Chao SC, Dikstein S, Elias P, Elsner P, Epprecht R, Francomano MA, Gfatter R, Gfatter R, Hartmann AA, Heuss E, Keining E, Korting HC, Korting HC, Korting HC, Korting HC, Krien PM, Menon GK, Mucke H, Naissan O, Ohmann H, Rippke F, Runeman B, Schade H, Schirren CG, Schnyder UW, Schreiner V, Seidenari S, Sparavigna A, Talbert GA, Turner RB, Vahlquist A, Wickett RR, Wilhelm KP, Yosipovitch G, Yosipovitch G, Yosipovitch G, Zlotogorski A   +41 more
core   +1 more source

Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesis

, 2020
For a quarter of the century, tremendous advances have been achieved in our understanding of the pathogenic mechanisms and relevant genetic defects underlying ichthyoses and ichthyosis syndromes.
M. Akiyama
semanticscholar   +1 more source

Progress in the use of adeno-associated viral vectors for gene therapy [PDF]

, 2004
The development of safe and efficient gene transfer vectors is crucial for the success of gene therapy trials. A viral vector system promising to meet these requirements is based on the apathogenic adeno-associated virus (AAV-2), a member of the ...
Braun-Falco, M., Buning, H., Hallek, M.
core   +1 more source