Keywords: ایشتیوز; Ichthyosis; Hearing loss; Deafness; Otological; Ear, nose and throatIctiosis; Hipoacusia; Sordera; Otológicas; Otorrinolaringología
مقالات ISI ایشتیوز (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: ایشتیوز; ichthyosis; psoriasis; salicylic acid; salicylism; skin absorption; topical; toxicity;
Keywords: ایشتیوز; Desmosome; Corneodesmosome; Genetics; Ichthyosis
Keywords: ایشتیوز; ARCI; autosomal recessive congenital ichthyoses; CLE; corneocyte lipid envelope; EFA; essential fatty acid; LOX; lipoxygenase; eLOX3; epidermal lipoxygenase-3; EOS; esterified omega-hydroxyacyl-sphingosine; FATP4; fatty acid transport protein 4; H(P)ETE;
Keywords: ایشتیوز; Ichthyosis; Ectropion; Congenital; Skin graft; Collodion
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran
Keywords: ایشتیوز; Ichthyosis; Spasticity; ALDH3A2; Intellectual disability; FALDH; fatty aldehyde dehydrogenase; SLS; Sjögren-Larsson syndrome;
The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab
Keywords: ایشتیوز; Carvajal syndrome; EKC syndrome; ichthyosis; keratoderma; orphan disease; personalized medicine; pustular psoriasis; SAM syndrome; Th1; Th17; therapeutic repurposing; therapy; ustekinumab; woolly hair; CIE; congenital ichthyosiform erythroderma; DCWHKTA;
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Keywords: ایشتیوز; Formylglycine generating enzyme; Ichthyosis; Multiple sulfatase deficiency; Sulfatase; SUMF1;
An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis
Keywords: ایشتیوز; 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
Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome
Keywords: ایشتیوز; Ichthyosis; Limb reduction; CHILD; Autosomal recessive;
Ichtyose et stigmatisation sociale au Burkina Faso
Keywords: ایشتیوز; Ichtyose; Difficultés de prise en charge; Stigmatisation; Burkina Faso; Ichthyosis; Support difficulties; Stigma; Burkina Faso;
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation
Keywords: ایشتیوز; Chanarin-Dorfman syndrome; Ichthyosis; Jordan anomaly; ABHD5/CGI-58 gene
IQoL-32: A new ichthyosis-specific measure of quality of life
Keywords: ایشتیوز; genodermatosis; ichthyosis; quality of life; questionnaire; score; toolANIPS, Association Nationale des Ichtyoses et Peaux Sèches pathologiques; DLQI, Dermatology Life Quality Index; QoL, quality of life; SF-12, Short Form-12 health-related questionnaire
Genodermatoses
Keywords: ایشتیوز; cancer syndromes; collagen; epidermolysis bullosa; filaggrin; genodermatoses; ichthyosis; keratinization; pseudoxanthoma elasticum; vascular anomalies
Unfolded protein response in keratinocytes: Impact on normal and abnormal keratinization
Keywords: ایشتیوز; Chemical chaperone; Darier's disease; Endoplasmic reticulum stress; Ichthyosis; Keratinization; Unfolded protein response
First Symposium of Ichthyosis Experts
Keywords: ایشتیوز; Ichthyosis; Keratinization disorders; Ichthyosiform congenital erythrodermaIctiosis; Trastornos de la queratinización; Eritrodermia ictiosiforme congénita
Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B)
Keywords: ایشتیوز; Corneodesmosome; Skin barrier; Atopic dermatitis; Ichthyosis; Peeling skin syndrome; Netherton syndrome
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis
Keywords: ایشتیوز; FATP4; SLC27A4; NIPAL4; Ichthyosis; Ichthyin; Epidermis
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype
Keywords: ایشتیوز; Muscular dystrophy; Cardiomyopathy; Ichthyosis; Choline kinase beta; Mitochondria
Canine Ichthyosis and Related Disorders of Cornification
Keywords: ایشتیوز; Canine; Cornification; Ichthyosis; Seborrhea; Scaling;
Autosomal Recessive Congenital Ichthyosis
Keywords: ایشتیوز; Ichthyosis; Autosomal recessive congenital ichthyosis; ARCI; TGM1; ALOXE3Ictiosis; Ictiosis congénita autosómica recesiva; ICAR; TGM1; ALOXE3
Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort
Keywords: ایشتیوز; Sjögren–Larsson syndrome; ALDH3A2; Fatty aldehyde dehydrogenase; Ichthyosis; Mental retardation; Spastic paraplegia
Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain
Keywords: ایشتیوز; epidemiology; health services accessibility; ichthyosis; prevalenceARCI, autosomal recessive congenital ichthyosis; ASIC, Spanish Association of Ichthyosis Patients; CIE, congenital ichthyosiform erythroderma; HI, harlequin ichthyosis; LI, lamellar ichthy
Fatty acid transport proteins, implications in physiology and disease
Keywords: ایشتیوز; Fatty acid uptake protein; SLC27; Diabetes; Lipotoxicity; Hepatosteatosis; Ichthyosis
Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations
Keywords: ایشتیوز; Genodermatosis; Genetic modifier; Skin barrier; Eczema; Ichthyosis
Large contiguous gene deletions in Sjögren-Larsson syndrome
Keywords: ایشتیوز; CGH; comparative genomic hybridization; FALDH; fatty aldehyde dehydrogenase; FISH; fluorescence in situ hybridization; LDI-PCR; long distance inverse-PCR; OMIM; Online Mendalian Inheritance in Man; SLS; Sjögren-Larsson syndrome; SMS; Smith-Magenis sy
X-linked ichthyosis: An oculocutaneous genodermatosis
Keywords: ایشتیوز; genodermatosis; hyperkeratosis; ichthyosis; X-linked
Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy
Keywords: ایشتیوز; adult Refsum disease; anosmia; ataxia; blood plasma filtration; ichthyosis; phytanic acid; polyneuropathy; sensorineural hearing loss; tapetoretinal degeneration;
LC–MS/MS analysis of epoxyalcohols and epoxides of arachidonic acid and their oxygenation by recombinant CYP4F8 and CYP4F22
Keywords: ایشتیوز; Epoxyeicosatrienoic acid; Electrospray ionization; Hepoxilins; Ichthyosis; Ion trap mass-spectrometry; Lipid signaling
Genodermatoses
Keywords: ایشتیوز; cancer syndromes; collagen; epidermolysis bullosa; filaggrin; genodermatoses; ichthyosis; keratinization; pseudoxanthoma elasticum
Comèl-Netherton syndrome defined as primary immunodeficiency
Keywords: ایشتیوز; Comèl-Netherton syndrome; SPINK5; LEKTI; immune deficiency; NK-cell cytotoxicity; selective antibody deficiency; IVIG; ichthyosis; bamboo hair; atopic diathesisCCL5, Chemokine (C-C motif) ligand 5; FITC, Fluorescein isothiocyanate; FOXP3, Forkhead box pro
Diseases of epidermal keratins and their linker proteins
Keywords: ایشتیوز; Epidermal keratins; Intermediate filaments; Epidermal differentiation; Hemidesmosomes; Desmosomes; Genodermatoses; Skin fragility; Epidermolysis bullosa; Epidermolytic hyperkeratosis; Ichthyosis
High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation
Keywords: ایشتیوز; Ichthyosis; Congenital genodermatosis; Cholesterol;
Clinical and genetic characterization of Chanarin–Dorfman syndrome
Keywords: ایشتیوز; Chanarin–Dorfman syndrome; Neutral lipid storage disease; Ichthyosis; Jordans’ bodies; Myopathy
Case reportSevere steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation
Keywords: ایشتیوز; Chanarin-Dorfman syndrome; Non-alcoholic steatohepatitis; Ichthyosis;
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
Keywords: ایشتیوز; Filaggrin; eczema; ichthyosis; keratinization; skin barrier; atopy; skin; genodermatosis; genetics; mutationAD, Atopic dermatitis; DMSO, Dimethyl sulfoxide; EDC, Epidermal differentiation complex; IV, Ichthyosis vulgaris
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome
Keywords: ایشتیوز; Kallmann syndrome; KAL1; hypogonadotropic hypogonadism; renal agenesis; renal dysgenesis; ichthyosis
Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation
Keywords: ایشتیوز; Lipoxygenase; Keratinocytes; Terminal differentiation; Ichthyosis; Epidermal barrier; Adipogenesis; Peroxisome proliferator activated receptor
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD
Keywords: ایشتیوز; ADHD; Chondrodysplasia punctata; Contiguous gene syndrome; Ichthyosis; Xp22.3 microdeletion
Sjögren–Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency
Keywords: ایشتیوز; Ichthyosis; Mental retardation; Spastic diplegia; Mutation; Leukotriene; ω-Oxidation; Fatty aldehyde; Fatty alcohol
Human and mouse eLOX3 have distinct substrate specificities: Implications for their linkage with lipoxygenases in skin
Keywords: ایشتیوز; Hepoxilin; Epoxyalcohol; HPETE; Fatty acid hydroperoxide; Epidermis; Differentiation; Ichthyosis;
ABC A-subfamily transporters: Structure, function and disease
Keywords: ایشتیوز; ABC transporter; Lipid; Atherosclerosis; Retina; Surfactant; Ichthyosis
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease
Keywords: ایشتیوز; Gaucher disease; GBA; Ichthyosis; Perinatal form; [L444P;E326K] allele; I260T mutation;
Syndrome KID (Keratitis-Ichtyosis-Deafness) : hypothèse pathogénique de l'atteinte oculaire
Keywords: ایشتیوز; Syndrome KID; kératite vascularisée; surdité de perception; ichtyose; dysfonctionnement meibomien; KID syndrome; vascular keratitis; ichthyosis; neurosensorial deafness; meibomian dysfunction;
Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2-q13
Keywords: ایشتیوز; ichthyosis; cornification; genetic; mapping; homozygosity; periphilin;
Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3
Keywords: ایشتیوز; NCIE; non-bullous congenital ichthyosiform erythroderma; LC-ESI-MS; liquid chromatography-electrospray ionization-mass spectrometry; GC-MS; gas chromatography-mass spectrometry; KETE; ketoeicosatetraenoic acid; LOX; lipoxygenase; eLOX3; epidermal lipoxyge