Alain Hovnanian
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View article: Unveiling serine protease activity profiles in Netherton syndrome skin across clinical subtypes by noninvasive analysis
Unveiling serine protease activity profiles in Netherton syndrome skin across clinical subtypes by noninvasive analysis Open
This study identifies differences in kallikrein-related peptidase (KLK) expression and activity between healthy skin and Netherton syndrome (NS) skin, distinguishing lesional and nonlesional areas in the two major clinical subtypes. Increa…
View article: A recurrent de novo damaging variant in <i>EMP2</i> causes progressive symmetric erythrokeratoderma
A recurrent de novo damaging variant in <i>EMP2</i> causes progressive symmetric erythrokeratoderma Open
Genetic investigation in Mendelian skin disorders featuring generalized or localized skin scaling and redness, known as the ichthyoses, has revealed novel pathways relevant to epidermal integrity, barrier function, and desquamation. Here, …
View article: LB1176 Highly efficient correction of three recurrent pathogenic variants in COL7A1 using base editing to treat recessive dystrophic epidermolysis bullosa
LB1176 Highly efficient correction of three recurrent pathogenic variants in COL7A1 using base editing to treat recessive dystrophic epidermolysis bullosa Open
View article: Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
Epidermal differentiation disorders (EDDs) encompass inherited conditions characterized by abnormal epidermal differentiation, including nonsyndromic and syndromic subtypes with more extensive cutaneous involvement or palmoplantar keratode…
View article: Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
Since the 2010 classification of ichthyoses, our understanding of hereditary epidermal differentiation disorders (EDDs) has markedly increased, allowing for consideration of new therapeutic targets based on disease pathogenesis. A new gene…
View article: Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
More than 50 palmoplantar epidermal differentiation disorders (pEDDs) have been reported in the literature. Various descriptors have been used to name these conditions, including clinical features often designated as acronyms or evocative …
View article: Systems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa
Systems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa Open
Endotypes are characterized by the immunological, inflammatory, metabolic, and remodelling pathways that explain the mechanisms underlying the clinical presentation (phenotype) of a disease. Recessive dystrophic epidermolysis bullosa (RDEB…
View article: Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies
Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies Open
View article: Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa Open
View article: Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study
Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study Open
Introduction: Netherton syndrome (NS; OMIM#256500) is a rare and severe disorder of epidermal maturation and keratinization caused by pathogenic variants in the serine protease inhibitor Kazal type 5 (SPINK5), leading to severe skin barrie…
View article: Clinical characteristics and genetic analysis of 14 patients affected with acne (A) fulminans and hidradenitis suppurativa (SH): ASH syndrome, a new phenotypic entity
Clinical characteristics and genetic analysis of 14 patients affected with acne (A) fulminans and hidradenitis suppurativa (SH): ASH syndrome, a new phenotypic entity Open
View article: Splice modulation strategy applied to deep intronic variants in <i>COL7A1</i> causing recessive dystrophic epidermolysis bullosa
Splice modulation strategy applied to deep intronic variants in <i>COL7A1</i> causing recessive dystrophic epidermolysis bullosa Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genetic disease characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic c…
View article: Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa
Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare severe hereditary skin disease characterized by skin and mucosa fragility, resulting in blister formation. The most severe complication in RDEB patients is the development of cuta…
View article: Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa
Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare severe hereditary skin disease characterized by skin and mucosa fragility, resulting in blister formation. The most severe complication in RDEB patients is the development of cuta…
View article: Correction: Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Correction: Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis Open
View article: Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis Open
Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here…
View article: Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways
Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways Open
Netherton syndrome (NS) is a rare skin disease caused by loss-of-function mutations in the serine peptidase inhibitor Kazal type 5 ( SPINK5 ) gene. Disease severity and the lack of efficacious treatments call for a better understanding of …
View article: Large-scale functional inference for skin-expressing lncRNAs using expression and sequence information
Large-scale functional inference for skin-expressing lncRNAs using expression and sequence information Open
Long noncoding RNAs (lncRNAs) regulate the expression of protein-coding genes and have been shown to play important roles in inflammatory skin diseases. However, we still have limited understanding of the functional impact of lncRNAs in sk…
View article: Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa
Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe genetic skin disease responsible for blistering of the skin and mucosa after minor trauma. RDEB is caused by a wide variety of variants in COL7A1 encoding type VII Coll…
View article: Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa
Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa Open
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic disease responsible for blistering of the skin and mucosa caused by a wide variety of mutations in COL7A1 encoding type VII collagen. We have generated Induced …
View article: Supplementary Data from Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma
Supplementary Data from Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Open
Figure S1-3 Table S1-2
View article: Data from Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma
Data from Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Open
Purpose:Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying w…
View article: Supplementary Data from Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma
Supplementary Data from Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Open
Figure S1-3 Table S1-2
View article: Data from Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma
Data from Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Open
Purpose:Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying w…
View article: Type I IFNs link skin-associated dysbiotic commensal bacteria to pathogenic inflammation and angiogenesis in rosacea
Type I IFNs link skin-associated dysbiotic commensal bacteria to pathogenic inflammation and angiogenesis in rosacea Open
Rosacea is a common chronic inflammatory skin disease with a fluctuating course of excessive inflammation and apparent neovascularization. Microbial dysbiosis with a high density of Bacillus oleronius and increased activity of kallikrein 5…
View article: Biological treatments for pediatric Netherton syndrome
Biological treatments for pediatric Netherton syndrome Open
Netherton syndrome (NS) is a rare and potentially life-threatening genetic skin disease responsible for skin inflammation and scaling, hair abnormalities and severe allergic manifestations. NS is caused by loss-of-function variants in Seri…
View article: <i>AXIN2</i> germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer
<i>AXIN2</i> germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer Open
Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or cancer have been described, raising questions about the actual contribution of this gene to colorectal cancer (CRC) susceptibility. To assess the clin…
View article: EGFR Signaling Is Overactive in Pachyonychia Congenita: Effective Treatment with Oral Erlotinib
EGFR Signaling Is Overactive in Pachyonychia Congenita: Effective Treatment with Oral Erlotinib Open
View article: Type I interferons link skin-associated dysbiotic commensal bacteria to pathogenic inflammation and angiogenesis in rosacea
Type I interferons link skin-associated dysbiotic commensal bacteria to pathogenic inflammation and angiogenesis in rosacea Open
Rosacea is a common chronic inflammatory skin disease with a fluctuating course of excessive inflammation and apparent neovascularization. Microbial dysbiosis with high density of B. oleronius and increased activity of kallikrein 5, which …
View article: Phage Display Selected Cyclic Peptide Inhibitors of Kallikrein-Related Peptidases 5 and 7 and Their <i>In Vivo</i> Delivery to the Skin
Phage Display Selected Cyclic Peptide Inhibitors of Kallikrein-Related Peptidases 5 and 7 and Their <i>In Vivo</i> Delivery to the Skin Open
Kallikrein-related peptidases 5 (KLK5) and 7 (KLK7) are serine proteases with homeostatic functions in the epidermis that play a critical role in Netherton syndrome (NS), a rare yet life-threatening genetic disorder that currently lacks sp…