379 KB105: An HSV-based gene therapy vector engineered to deliver functional TGM1 to Autosomal Recessive Congenital Ichthyosis (ARCI) keratinocytes
نویسندگان
چکیده
منابع مشابه
Autosomal recessive congenital ichthyosis.
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...
متن کاملMolecular Genetics of Autosomal Recessive Congenital Ichthyosis
3 It seems as though I had not drunk from the cup of wisdom, but had fallen into it Søren Kierkegaard To Panu
متن کاملA Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as gui...
متن کاملMutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a h...
متن کاملOtologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children.
BACKGROUND Few studies have investigated ear involvement in nonsyndromic autosomal recessive congenital ichthyosis (ARCI). OBJECTIVES To assess the type and frequency of otologic manifestations of ARCI in patients under follow-up at the pediatric dermatology department of our hospital. MATERIALS AND METHODS We prospectively studied the presence of ear pain, ear itching, tinnitus, otitis, ce...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2019
ISSN: 0022-202X
DOI: 10.1016/j.jid.2019.03.455