Keywords: ichthyosis مادرزادی اتوزومی مغلوب; ADULT; acro-dermato-ungual-lacrimal-tooth; ARCI; autosomal recessive congenital ichthyosis; DOK; disorders of keratinization; ED; ectodermal dysplasia;
مقالات ISI ichthyosis مادرزادی اتوزومی مغلوب (ترجمه نشده)
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Keywords: ichthyosis مادرزادی اتوزومی مغلوب; ABC; ATP-binding cassette; acyl-Cer; acylceramide; ACS; acyl-CoA synthetase; ACSBG; acyl-CoA synthetase bubblegum; ACSF; acyl-CoA synthetase family; ACSL; acyl-CoA synthetase long-chain; ACSM; acyl-CoA synthetase medium-chain; ACSS; acyl-CoA synthetase sh
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; Autosomal recessive congenital ichthyosis; Malaysia; Mutation analysis;
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; collodion baby; collodion membrane; congenital ichthyosis; disorders of cornification; neonatal diseases; nonsyndromic ichthyosis; syndromic ichthyosis; ARCI; autosomal recessive congenital ichthyosis; CIE; congenital ichthyosiform erythroderma; HI; harle
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; ARCI; autosomal recessive congenital ichthyosis; CE; cornified envelope; Cer; ceramide; CerS1-6; ceramide synthase 1-6; CLE; corneocyte lipid envelope; ELOVL1-7; elongation of very long chain fatty acids 1-7; ER; endoplasmic reticulum; FA; fatty a
Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; ARCI; autosomal recessive congenital ichthyosis; ATP; adenosine triphosphate; CE; cornified cell envelope; E; embryonic day; EDC; epidermal differentiation complex; KO; knockout; P; postnatal day; RT-PCR; reverse transcriptase-PCR; WT; wild type;
The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; AD; atopic dermatitis; ARCI; autosomal recessive congenital ichthyosis; CIE; congenital ichthyosiform erythroderma; CLA; cutaneous lymphocyte antigen; EI; epidermolytic ichthyosis; IASI; ichthyosis area severity index; IASI-E; ichthyosis area severity ind
Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; ABC; ATP-binding cassette; ABCA12; ATP-binding cassette sub-family A member 12; ABHD5; α/β-hydrolase domain-containing protein 5; ARCI; autosomal recessive congenital ichthyosis; CCE; cornified cell envelope; CERS; ceramide synthase; CIE; congenital ich
An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; Epidermis; ichthyosis; inflammation; autosomal recessive congenital ichthyosis; congenital ichthyosiform erythroderma; lamellar ichthyosis; Netherton syndrome; epidermolytic ichthyosis; skin; IL-17; TNF-α; AD; Atopic dermatitis; AMP; Antimicrobial peptid
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; ARCI; autosomal recessive congenital ichthyosis; bp; base pair; NGS; next generation sequencing;
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; ABHD5; α/β hydrolase domain containing 5; Ï-O-AcylCers; Ï-O-acylceramides; ARCI; autosomal recessive congenital ichthyosis; CLE; corneocyte-bound lipid envelope; FA; fatty acid; Ï-OH-(Glc)Cers; Ï-hydroxy-(glucosyl)ceramides; PNPLA1; patatin-like pho
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; ARCI11; Autosomal recessive congenital ichthyosis; Follicular atrophoderma and hypotrichosis;
Mammalian lipoxygenases and their biological relevance
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; LOX; lipoxygenase; COX; cyclooxygenase; LT; leukotriene; HETE; hydroxyeicosatetraenoic acid; PPAR; peroxisome proliferator activated receptor; MICAL; molecule interacting with CasL; ARCI; autosomal recessive congenital ichthyosis; GPCR; G-protein coupled
Ictiosis congénitas autosómicas recesivas
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; Ictiosis; Ictiosis congénita autosómica recesiva; ICAR; TGM1, ALOXE3Ichthyosis; Autosomal recessive congenital ichthyosis; ARCI; TGM1; ALOXE3
Autosomal Recessive Congenital Ichthyosis
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; Ichthyosis; Autosomal recessive congenital ichthyosis; ARCI; TGM1; ALOXE3Ictiosis; Ictiosis congénita autosómica recesiva; ICAR; TGM1; ALOXE3
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009
Keywords: ichthyosis مادرزادی اتوزومی مغلوب; autosomal recessive congenital ichthyosis; epidermolytic ichthyosis; genetics; histology; keratinopathic ichthyosis; mendelian disorders of cornification; superficial epidermolytic ichthyosis; ultrastructureARCI, autosomal recessive congenital ichthyosis;