Clinical and molecular implications of structural changes to desmosomes and corneodesmosomes

KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype

(2017) Petr Kasparek et al.   PLoS Genetics

Counterregulation between thymic stromal lymphopoietin– and IL-23–driven immune axes shapes skin inflammation in mice with epidermal barrier defects

(2016) Jiagui Li et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Molecular organization of the desmosome as revealed by direct stochastic optical reconstruction microscopy

(2016) Sara N. Stahley et al.   JOURNAL OF CELL SCIENCE

A founder deletion of corneodesmosin gene is prevalent in Japanese patients with peeling skin disease: Identification of 2 new cases

(2016) Kwesi Teye et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Desmosomes and corneodesmosomes are enclosed by tight junctions at the periphery of granular cells and corneocytes, suggesting a role in generation of a peripheral distribution of corneodesmosomes in corneocytes

(2016) Yasuo Kitajima   JOURNAL OF DERMATOLOGICAL SCIENCE

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

(2016) Ruhong Cheng et al.   JOURNAL OF DERMATOLOGY

Tissue Kallikrein Inhibitors Based on the Sunflower Trypsin Inhibitor Scaffold – A Potential Therapeutic Intervention for Skin Diseases

(2016) Wenjie Chen et al.   PLoS One

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

(2015) N.A. Schlipf et al.   BRITISH JOURNAL OF DERMATOLOGY

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

(2015) Maeve A. McAleer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome

(2015) Laetitia Furio et al.   PLoS Genetics

Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies

(2014) C. Has et al.   BRITISH JOURNAL OF DERMATOLOGY

The biology and regulation of corneodesmosomes

(2014) Akemi Ishida-Yamamoto et al.   CELL AND TISSUE RESEARCH

Inherited desmosomal disorders

(2014) Liat Samuelov et al.   CELL AND TISSUE RESEARCH

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function

(2014) Matthew A. Brooke et al.   HUMAN MOLECULAR GENETICS

Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome

(2014) Laetitia Furio et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Netherton syndrome: skin inflammation and allergy by loss of protease inhibition

(2013) Alain Hovnanian   CELL AND TISSUE RESEARCH

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in thePSORS1region encompassing theCDSNgene

(2013) Akemi Ishida-Yamamoto et al.   EXPERIMENTAL DERMATOLOGY

Tight junction dysfunction in the stratum granulosum leads to aberrant stratum corneum barrier function in claudin-1-deficient mice

(2013) Tomoko Sugawara et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

(2013) Liat Samuelov et al.   NATURE GENETICS

Phase I Study Protocol for Ex Vivo Lentiviral Gene Therapy for the Inherited Skin Disease, Netherton Syndrome

(2013) Wei-Li Di et al.   Human Gene Therapy Clinical Development

Lamellar Granule Secretion Starts before the Establishment of Tight Junction Barrier for Paracellular Tracers in Mammalian Epidermis

(2012) Akemi Ishida-Yamamoto et al.   PLoS One

Compartmentalization of the human stratum corneum by persistent tight junction-like structures

(2011) Marek Haftek et al.   EXPERIMENTAL DERMATOLOGY

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

(2010) Vinzenz Oji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tight junctions in the stratum corneum explain spatial differences in corneodesmosome degradation

(2010) Satomi Igawa et al.   EXPERIMENTAL DERMATOLOGY

Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome

(2010) Katiuchia Uzzun Sales et al.   NATURE GENETICS