A novel mutation in exon 8 of C1 inhibitor (C1INH) gene leads to abolish its physiological stop codon in a large Chinese family with hereditary angioedema type I.

Abstract:

:C1 inhibitor (C1INH) plays an important role in the classical pathway of the complement system. Mutations in C1INH gene cause quantitative or qualitative deficiencies in C1INH, which can lead to hereditary angioedema (HAE) type I or II. Here, we identified a novel frame-shift mutation c.1391-1445del55 (p.v464fsx556) in exon 8 in a large Chinese family with HAE type I. This 55 base pairs deletion abolishes the original stop codon and introduces a new stop codon 220 bp downstream of the original one, and leads to mutated C1INH protein prolonged from 500 to 556 amino acids. The levels of C4 and C1INH as well as C1INH activity in serum were significantly reduced in affected individuals. This is the first report of a novel mutation abolishing the physiological stop codon of C1INH gene in a large Chinese family with HAE type I.

journal_name

Exp Dermatol

journal_title

Experimental dermatology

authors

Qu L,Wei B,Liu M,Zhang L,Xiao T,Chen HD,Zhou L,Mi QS,He C

doi

10.1111/j.1600-0625.2012.01563.x

subject

Has Abstract

pub_date

2012-10-01 00:00:00

pages

788-91

issue

10

eissn

0906-6705

issn

1600-0625

journal_volume

21

pub_type

信件
  • Expression of the Abca-subfamily of genes in Abcc6-/- mice--upregulation of Abca4.

    abstract::Pseudoxanthoma elasticum (PXE), a heritable multi-system disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver. Recent analysis of cultured fibroblasts from patients with PXE has suggested compensatory alterations in the expression of the ABCA-subfamily of genes. We have now determined by...

    journal_title:Experimental dermatology

    pub_type: 信件

    doi:10.1111/j.1600-0625.2010.01240.x

    authors: Li Q,Uitto J

    更新日期:2011-05-01 00:00:00

  • Texture analysis of second-harmonic-generation images for quantitative analysis of reticular dermal collagen fibre in vivo in human facial cheek skin.

    abstract::Second-harmonic-generation (SHG) microscopy is a powerful tool for in vivo visualisation of collagen fibres in human skin because of its specific collagen selectivity without the need for staining, non-invasiveness and high-resolution three-dimensional imaging. Although texture analysis of SHG images is a promising me...

    journal_title:Experimental dermatology

    pub_type: 临床试验,杂志文章

    doi:10.1111/exd.13560

    authors: Ogura Y,Tanaka Y,Hase E,Yamashita T,Yasui T

    更新日期:2019-08-01 00:00:00

  • Overcoming cell death resistance in skin cancer therapy: Novel translational perspectives.

    abstract::In the last decade, significant progress has been made in understanding skin cancer cell death resistance mechanisms, and a number of new treatment strategies have been developed. Systematic approach genomic studies of various cancer types have opened new possibilities for the development of anticancer therapies. Howe...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/exd.13309

    authors: Feoktistova M,Panayotova-Dimitrova D

    更新日期:2017-10-01 00:00:00

  • Para-phenylenediamine-specific lymphocyte activation test: a sensitive in vitro assay to detect para-phenylenediamine sensitization in patients with severe allergic reactions.

    abstract::Patients sensitized to para-phenylenediamine (PPD) by semi-permanent tattoos increasingly develop threatening allergic reactions in response to black hair dye. The gold standard to diagnose allergic contact dermatitis is to perform epicutaneous patch tests, however, iatrogenic sensitizations and severe patch test reac...

    journal_title:Experimental dermatology

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1600-0625.2009.01043.x

    authors: Kneilling M,Caroli U,Grimmel C,Fischer J,Eichner M,Wieder T,Maier FC,Röcken M,Biedermann T

    更新日期:2010-05-01 00:00:00

  • The dermal sheath: An emerging component of the hair follicle stem cell niche.

    abstract::Hair follicles cyclically regenerate throughout adult mammalian life, owing to a resident population of epithelial hair follicle stem cells. Stem cell (SC) activity drives bouts of follicle growth, which are periodically interrupted by follicle regression and rest. These phases and the transitions between them are tig...

    journal_title:Experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/exd.14204

    authors: Martino PA,Heitman N,Rendl M

    更新日期:2020-10-02 00:00:00

  • Targeting of the hNC16A collagen domain to dendritic cells induces tolerance to human type XVII collagen.

    abstract::Antibodies, specific to murine DEC205, can be used to target antigens to dendritic cells. The immunodominant domain of human type XVII collagen, hNC16A, was fused to this antibody (DEC-hNC16A) and was administered as expression plasmid by gene gun transfection with the aim of inducing tolerance to human type XVII coll...

    journal_title:Experimental dermatology

    pub_type: 信件

    doi:10.1111/j.1600-0625.2012.01474.x

    authors: Ettinger M,Gratz IK,Gruber C,Hauser-Kronberger C,Johnson TS,Mahnke K,Thalhamer J,Hintner H,Peckl-Schmid D,Bauer JW

    更新日期:2012-05-01 00:00:00

  • Topically injected adrenocorticotropic hormone induces mechanical hypersensitivity on a full-thickness cutaneous wound model in rats.

    abstract::Cutaneous wound pain causes physical and psychological stress for patients with wounds. Previous studies reported that stress induces hyperalgesia and deteriorates wound healing. However, the effect of the stress response such as in hypothalamic-pituitary-adrenal (HPA) axis on local wound area is unclear. We aimed to ...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/exd.13994

    authors: Goto T,Nakagami G,Minematsu T,Tomida S,Shinoda M,Iwata K,Sanada H

    更新日期:2019-09-01 00:00:00

  • The regulatory mechanism of melanogenesis by FTY720, a sphingolipid analogue.

    abstract::We previously reported that sphingosine-1-phosphate (S1P) decreases melanin synthesis via extracellular signal-regulated protein kinase (ERK) activation and microphthalmia-associated transcription factor (MITF) degradation. Although FTY720 is an S1P structural analogue, the effects of FTY720 on melanogenesis are not c...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0625.2010.01148.x

    authors: Lee JE,Kim SY,Jeong YM,Yun HY,Baek KJ,Kwon NS,Park KC,Kim DS

    更新日期:2011-03-01 00:00:00

  • Intercellular pathway through hyaluronic acid in UVB-induced inflammation.

    abstract::Ultraviolet B (UVB) radiation induces inflammation in the skin specifically at the site of exposure. We unexpectedly found that UVB-induced inflammation was not induced in gp91phox-depleted mice. To test whether gp91phox is directly involved in UVB-induced inflammation, neutrophil- and hyaluronic acid-depleted mice we...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/exd.12032

    authors: Hiramoto K,Kobayashi H,Yamate Y,Ishii M,Sato EF

    更新日期:2012-12-01 00:00:00

  • Itch-associated scratching contributes to the development of dermatitis and hyperimmunoglobulinaemia E in NC/Nga mice.

    abstract::Atopic dermatitis (AD) is related to immunoglobulin E (IgE) production, and a type-1 and type-2 helper T cell (Th1/Th2) imbalance has been hypothesized as the aetiology. While itching and scratching are important factors in the development of dermatitis, the mechanisms underlying these phenomena are poorly understood....

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0625.2011.01337.x

    authors: Hashimoto Y,Takaoka A,Sugimoto M,Honma Y,Sakurai T,Futaki N,Arai I

    更新日期:2011-10-01 00:00:00

  • Nucleofection is a highly effective gene transfer technique for human melanoma cell lines.

    abstract::Despite the increasing use of gene transfer strategies in the study of cellular and molecular biology, melanoma cells have remained difficult to transfect in a safe, efficient, and reproducible manner. In the present study, we report the successful use of nucleofector technology to transfect human melanoma cell lines....

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0625.2007.00687.x

    authors: Han SY,Gai W,Yancovitz M,Osman I,Di Como CJ,Polsky D

    更新日期:2008-05-01 00:00:00

  • Association of thymic stromal lymphopoietin gene -847C>T polymorphism in generalized vitiligo.

    abstract::Thymic stromal lymphopoietin (TSLP) induces naïve CD4+ T cells to produce Th2 cytokines. In addition, to low production of Th2 cytokines, strong Th1 response, which plays an important role in vitiligo development, has been induced by blockade of TSLP or TSLP receptor. This study examined whether a functional TSLP poly...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0625.2009.00897.x

    authors: Cheong KA,Chae SC,Kim YS,Kwon HB,Chung HT,Lee AY

    更新日期:2009-12-01 00:00:00

  • Antipsoriatic drug anthralin induces EGF receptor phosphorylation in keratinocytes: requirement for H(2)O(2) generation.

    abstract::Even though anthralin is a well-established topical therapeutic agent for psoriasis, little is known about its effects and biochemical mechanisms of signal transduction. In contrast to a previous report, we found that anthralin induced time- and concentration-dependent phosphorylation of epidermal growth factor recept...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.0906-6705.2004.00119.x

    authors: Peus D,Beyerle A,Vasa M,Pott M,Meves A,Pittelkow MR

    更新日期:2004-02-01 00:00:00

  • CCL7 contributes to the TNF-alpha-dependent inflammation of lesional psoriatic skin.

    abstract::Chemokines are small chemotactic proteins that have a crucial role in leukocyte recruitment into tissue. Targeting these mediators has been suggested as a potential therapeutic option in inflammatory skin diseases such as psoriasis. Using quantitative RT-PCR, we found CCL7, a chemokine ligand known to interact with mu...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/exd.12709

    authors: Brunner PM,Glitzner E,Reininger B,Klein I,Stary G,Mildner M,Uhrin P,Sibilia M,Stingl G

    更新日期:2015-07-01 00:00:00

  • Expression analysis of PD-1 and Tim-3 immune checkpoint receptors in patients with vitiligo; positive association with disease activity.

    abstract::The contribution of immune checkpoint receptors in the immunopathogenesis of various autoimmune diseases has been addressed in previous reports. In this study,  the expression profile of T-cell immunoglobulin and mucin-domain containing-3 (Tim-3) and programmed cell death-1 (PD-1) checkpoint molecules was investigated...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/exd.13952

    authors: Rahimi A,Hossein-Nataj H,Hajheydari Z,Aryanian Z,Shayannia A,Ajami A,Asgarian-Omran H

    更新日期:2019-06-01 00:00:00

  • Molecular genetics of pseudoxanthoma elasticum.

    abstract::Pseudoxanthoma elasticum (PXE), a systemic heritable connective tissue disorder, is characterized by progressive calcification of elastic structures in the skin, the eyes and the cardiovascular system, with considerable intra- and interfamilial phenotypic variability. Recently, underlying genetic defects have been ide...

    journal_title:Experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1034/j.1600-0625.2001.100401.x

    authors: Ringpfeil F,Pulkkinen L,Uitto J

    更新日期:2001-08-01 00:00:00

  • Atomic force microscopy as an innovative tool for nanoanalysis of native stratum corneum.

    abstract::This study demonstrates an innovative application of atomic force microscopy (AFM). The combination of high-resolution AFM technology and tape stripping is presented as a tool for the structure analysis of human stratum corneum (SC) at a nanometer scale. Topographic images with a vertical resolution of about 10 nm of ...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.0906-6705.2006.00424.x

    authors: Gorzelanny C,Goerge T,Schnaeker EM,Thomas K,Luger TA,Schneider SW

    更新日期:2006-05-01 00:00:00

  • E- and P-cadherin expression during murine hair follicle morphogenesis and cycling.

    abstract::The role of adhesion molecules in the control of hair follicle (HF) morphogenesis, regression and cycling is still rather enigmatic. Since the adhesion molecules E- and P-cadherin (Ecad and Pcad) are functionally important, e.g. during embryonic pattern formation, we have studied their expression patterns during neona...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0625.1999.tb00377.x

    authors: Müller-Röver S,Tokura Y,Welker P,Furukawa F,Wakita H,Takigawa M,Paus R

    更新日期:1999-08-01 00:00:00

  • p53 gene mutations in human skin cancers.

    abstract::The p53 gene is mutated in numerous human cancers. We used it as a molecular target to characterize and try to understand the induction of mutations in human skin cancers. About 40-50% of all skin cancers in normal individuals and 60-80% of the DNA-repair-deficient xeroderma pigmentosum patients exhibit p53 mutations....

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1034/j.1600-0625.11.s.1.11.x

    authors: Sarasin A,Giglia-Mari G

    更新日期:2002-01-01 00:00:00

  • Pheomelanin in the skin of Hymenochirus boettgeri (Amphibia: Anura: Pipidae).

    abstract::Pheomelanin is supposed to be the first type of melanin found in vertebrates, in contrast to the main type - eumelanin. Our study aimed at detecting pheomelanin in the skin of Hymenochirus boettgerii. We employed electron paramagnetic resonance (EPR) spectroscopy, and transmission electron microscopy (TEM), supplement...

    journal_title:Experimental dermatology

    pub_type: 信件

    doi:10.1111/j.1600-0625.2012.01511.x

    authors: Wolnicka-Glubisz A,Pecio A,Podkowa D,Kolodziejczyk LM,Plonka PM

    更新日期:2012-07-01 00:00:00

  • Variable Bax antigenicity is linked to keratinocyte position within epidermal strata and UV-induced apoptosis.

    abstract::Pro- and anti-apoptotic members of the Bcl-2 family are fundamental in the control of apoptosis. Among them, Bax plays a key role in apoptosis induction by mediating the release of apoptogenic factors from mitochondria to the cytosol. In this report, we investigated, by immunohistofluorescence, the in vivo distributio...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0625.2007.00660.x

    authors: Zuliani T,Obriot H,Tual M,Lachman-Weber N,Dumas M,Formstecher P,Polakowska R,Ratinaud MH

    更新日期:2008-02-01 00:00:00

  • Tobacco smoke-induced skin pigmentation is mediated by the aryl hydrocarbon receptor.

    abstract::It is widely recognized that tobacco smoke causes skin pigmentation. No studies, however, have directly evaluated the mechanisms of the changes in smoker's skin pigmentation. In this study, when cultured with water-soluble tobacco smoke extract, the human epidermal melanocytes grew to a large size and produced more me...

    journal_title:Experimental dermatology

    pub_type: 信件

    doi:10.1111/exd.12170

    authors: Nakamura M,Ueda Y,Hayashi M,Kato H,Furuhashi T,Morita A

    更新日期:2013-08-01 00:00:00

  • Possible histopathologic correlates of dermoscopic features in pigmented melanocytic lesions identified by means of optical coherence tomography.

    abstract::Optical coherence tomography (OCT) is a novel non-invasive imaging technique for in vivo histologic characterization of tissues. Besides pure morphology, additional functional parameters of the tissue investigated can be evaluated at the same time, such as the refractive index and the scattering coefficient. The purpo...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.0906-6705.2005.00229.x

    authors: de Giorgi V,Stante M,Massi D,Mavilia L,Cappugi P,Carli P

    更新日期:2005-01-01 00:00:00

  • Mitochondrial dysfunction: a neglected component of skin diseases.

    abstract::Aberrant mitochondrial structure and function influence tissue homeostasis and thereby contribute to multiple human disorders and ageing. Ten per cent of patients with primary mitochondrial disorders present skin manifestations that can be categorized into hair abnormalities, rashes, pigmentation abnormalities and acr...

    journal_title:Experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/exd.12484

    authors: Feichtinger RG,Sperl W,Bauer JW,Kofler B

    更新日期:2014-09-01 00:00:00

  • S100B as a potential biomarker for the detection of cytotoxicity of melanocytes.

    abstract::Skin irritation is one of the most common adverse reactions in hydroquinone (HQ) and retinoic acid (RA). Although melanocytes have rarely been considered to be involved in skin irritation, RA and particularly HQ could induce melanocyte toxicity, resulting in depigmentation. We chose S100B as a candidate gene for melan...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/exd.12332

    authors: Cheong KA,Noh M,Kim CH,Lee AY

    更新日期:2014-03-01 00:00:00

  • Antiflammin 1 peptide delivered non-invasively by iontophoresis reduces irritant-induced inflammation in vivo.

    abstract::The potential of an anti-inflammatory peptide (antiflammin 1) to reduce irritation when delivered transdermally by iontophoresis was examined. A model drug irritant, chlorpromazine, was co-delivered with and without antiflammin 1 by iontophoresis to hairless guinea pigs transdermally. Quantitative skin irritation meas...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0625.1997.tb00203.x

    authors: Mize NK,Buttery M,Ruis N,Leung I,Cormier M,Daddona P

    更新日期:1997-08-01 00:00:00

  • Modulation of keratinocyte growth factor (KGF) mRNA expression in human dermal fibroblasts grown in monolayer or within a collagen matrix.

    abstract::In this study, we analysed the modulation of keratinocyte growth factor (KGF) mRNA expression in human dermal fibroblasts cultured either in monolayer or within a collagen matrix (dermal equivalent). In monolayer cultures, KGF expression by quiescent fibroblasts was stimulated by different growth substances such as se...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0625.1996.tb00103.x

    authors: Le Panse R,Bouchard B,Lebreton C,Coulomb B

    更新日期:1996-04-01 00:00:00

  • Ex vivo analysis of desmoglein 1-responsive T-helper (Th) 1 and Th2 cells in patients with pemphigus foliaceus and healthy individuals.

    abstract::Pemphigus foliaceus (PF) is a severe autoimmune bullous disorder, characterized by autoantibodies (autoAb) against desmoglein 1 (Dsg1). As T cells may be critical in the pathology of PF, the aim of the present study was to identify and characterize autoaggressive T-helper cells reactive to Dsg1 in PF patients and heal...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.0906-6705.2005.00329.x

    authors: Gebhard KL,Veldman CM,Wassmuth R,Schultz E,Schuler G,Hertl M

    更新日期:2005-08-01 00:00:00

  • Sphingosine-1-phosphate modulators in inflammatory skin diseases - lining up for clinical translation.

    abstract::The bioactive lysophospholipid sphingosine-1-phosphate (S1P) is best known for its activity as T-cell-active chemoattractant regulating the egress of T cells from the lymph node and, consequently, the availability of T cells for migration into peripheral tissues. This physiological role of S1P is exploited by the drug...

    journal_title:Experimental dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/exd.13174

    authors: Thieme M,Zillikens D,Sadik CD

    更新日期:2017-03-01 00:00:00

  • Characterization of circadian human facial surface lipid composition.

    abstract:BACKGROUND:The circadian rhythm is an endogenous clock that governs a wide range of physiological functions. In the skin, rhythmic changes in skin barrier function have been investigated at the physiological level; however, few studies at the molecular level have been reported. Additionally, there is no study on lipido...

    journal_title:Experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/exd.13933

    authors: Jia Y,Zhou M,Huang H,Gan Y,Yang M,Ding R

    更新日期:2019-07-01 00:00:00