Literature DB >> 29705242

Epithelial barrier dysfunction in desmoglein-1 deficiency.

Laura Polivka1, Smail Hadj-Rabia1, Elodie Bal2, Stéphanie Leclerc-Mercier3, Marine Madrange2, Yamina Hamel2, Damien Bonnet4, Stéphanie Mallet5, Hubert Lepidi6, Caroline Ovaert7, Patrick Barbet8, Christophe Dupont9, Bénédicte Neven10, Arnold Munnich11, Lisa M Godsel12, Florence Campeotto13, Robert Weil14, Emmanuel Laplantine14, Sylvie Marchetto15, Jean-Paul Borg15, William I Weis16, Jean-Laurent Casanova17, Anne Puel18, Kathleen J Green12, Christine Bodemer19, Asma Smahi20.   

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Year:  2018        PMID： 29705242      PMCID： PMC6078820          DOI： 10.1016/j.jaci.2018.04.007

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  17 in total

1.  Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.

Authors:  N A Schlipf; A Vahlquist; N Teigen; M Virtanen; A Dragomir; S Fismen; M Barenboim; T Manke; B Rösler; A Zimmer; J Fischer
Journal:  Br J Dermatol       Date:  2015-11-19       Impact factor: 9.302

2.  A role for Erbin in the regulation of Nod2-dependent NF-kappaB signaling.

Authors:  Christine McDonald; Felicia F Chen; Vincent Ollendorff; Yasunori Ogura; Sylvie Marchetto; Patrick Lécine; Jean-Paul Borg; Gabriel Nuñez
Journal:  J Biol Chem       Date:  2005-10-03       Impact factor: 5.157

3.  Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).

Authors:  S Dănescu; J Leppert; R Cosgarea; S Zurac; S Pop; A Baican; C Has
Journal:  J Eur Acad Dermatol Venereol       Date:  2016-11-07       Impact factor: 6.166

4.  The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.

Authors:  Paola Fortugno; Laetitia Furio; Massimo Teson; Matteo Berretti; May El Hachem; Giovanna Zambruno; Alain Hovnanian; Marina D'Alessio
Journal:  Hum Mol Genet       Date:  2012-06-23       Impact factor: 6.150

5.  Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.

Authors:  Ruhong Cheng; Ming Yan; Cheng Ni; Jia Zhang; Ming Li; Zhirong Yao
Journal:  J Dermatol       Date:  2016-10       Impact factor: 4.005

6.  Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain.

Authors:  Hee-Jung Choi; William I Weis
Journal:  J Mol Biol       Date:  2011-04-22       Impact factor: 5.469

7.  Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.

Authors:  Robert M Harmon; Cory L Simpson; Jodi L Johnson; Jennifer L Koetsier; Adi D Dubash; Nicole A Najor; Ofer Sarig; Eli Sprecher; Kathleen J Green
Journal:  J Clin Invest       Date:  2013-03-25       Impact factor: 14.808

8.  Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells.

Authors:  J G Rheinwald; H Green
Journal:  Cell       Date:  1975-11       Impact factor: 41.582

9.  ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Authors:  J J Lyons; Y Liu; C A Ma; X Yu; M P O'Connell; M G Lawrence; Y Zhang; K Karpe; M Zhao; A M Siegel; K D Stone; C Nelson; N Jones; T DiMaggio; D N Darnell; E Mendoza-Caamal; L Orozco; J D Hughes; J McElwee; R J Hohman; P A Frischmeyer-Guerrerio; M E Rothenberg; A F Freeman; S M Holland; J D Milner
Journal:  J Exp Med       Date:  2017-01-26       Impact factor: 14.307

10.  Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

Authors:  Lynn M Boyden; Chen Y Kam; Angela Hernández-Martín; Jing Zhou; Brittany G Craiglow; Robert Sidbury; Erin F Mathes; Sheilagh M Maguiness; Debra A Crumrine; Mary L Williams; Ronghua Hu; Richard P Lifton; Peter M Elias; Kathleen J Green; Keith A Choate
Journal:  Hum Mol Genet       Date:  2015-11-24       Impact factor: 6.150
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  13 in total

1.  Keratinocyte cadherin desmoglein 1 controls melanocyte behavior through paracrine signaling.

Authors:  Christopher R Arnette; Quinn R Roth-Carter; Jennifer L Koetsier; Joshua A Broussard; Hope E Burks; Kathleen Cheng; Christine Amadi; Pedram Gerami; Jodi L Johnson; Kathleen J Green
Journal:  Pigment Cell Melanoma Res       Date:  2019-10-10       Impact factor: 4.693

Review 2.  Epithelial origin of eosinophilic esophagitis.

Authors:  Mark Rochman; Nurit P Azouz; Marc E Rothenberg
Journal:  J Allergy Clin Immunol       Date:  2018-07       Impact factor: 10.793

3.  A Spectrum of Skin Disease: How Staphylococcus aureus Colonization, Barrier Dysfunction, and Cytokines Shape the Skin.

Authors:  Mary C Moran; Lisa A Beck; Christopher T Richardson
Journal:  J Invest Dermatol       Date:  2020-05       Impact factor: 8.551

4.  Ovariectomized mice and postmenopausal women exhibit analogous loss of genital epithelial integrity.

Authors:  Nirk E Quispe Calla; Rodolfo D Vicetti Miguel; Kristen M Aceves; Huijie Huang; Brooke Howitt; Thomas L Cherpes
Journal:  Tissue Barriers       Date:  2021-01-11

Review 5.  Ichthyoses-A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation.

Authors:  Dieter Metze; Heiko Traupe; Kira Süßmuth
Journal:  Dermatopathology (Basel)       Date:  2021-05-07

Review 6.  Desmosomal Cadherins in Health and Disease.

Authors:  Marihan Hegazy; Abbey L Perl; Sophia A Svoboda; Kathleen J Green
Journal:  Annu Rev Pathol       Date:  2021-08-23       Impact factor: 23.472

7.  Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Authors:  Francesc Rudilla; Clara Franco-Jarava; Mónica Martínez-Gallo; Marina Garcia-Prat; Andrea Martín-Nalda; Jacques Rivière; Aina Aguiló-Cucurull; Laura Mongay; Francisco Vidal; Xavier Solanich; Iñaki Irastorza; Juan Luis Santos-Pérez; Jesús Tercedor Sánchez; Ivon Cuscó; Clara Serra; Noelia Baz-Redón; Mónica Fernández-Cancio; Carmen Carreras; José Manuel Vagace; Vicenç Garcia-Patos; Ricardo Pujol-Borrell; Pere Soler-Palacín; Roger Colobran
Journal:  Front Immunol       Date:  2019-10-01       Impact factor: 7.561

Review 8.  Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis.

Authors:  Jacob E Michalski; David A Schwartz
Journal:  J Inflamm Res       Date:  2021-01-05

9.  Exogenous sex steroids regulate genital epithelial barrier function in female rhesus macaques.

Authors:  Nirk E Quispe Calla; Rodolfo D Vicetti Miguel; Linda Fritts; Christopher J Miller; Kristen M Aceves; Thomas L Cherpes
Journal:  Biol Reprod       Date:  2020-08-04       Impact factor: 4.285

Review 10.  Desmosomes:  Essential contributors to an integrated intercellular junction network.

Authors:  Kathleen J Green; Avinash Jaiganesh; Joshua A Broussard
Journal:  F1000Res       Date:  2019-12-30
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