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List of works by Alain Hovnanian

1,2,4-Triazole derivatives as transient inactivators of kallikreins involved in skin diseases

scientific article published on 24 June 2013

A CD2+ subset of non-malignant peripheral blood lymphocytes from patients with Sézary syndromes overexpress the low-molecular-weight GTP-binding protein Rab2.

scientific article published in April 1993

A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs

scientific article

A New Case of Keratin 14 Functional Knockout Causes Severe Recessive EBS and Questions the Haploinsufficiency Model of Naegeli–Franceschetti–Jadassohn Syndrome

scientific article published on 07 July 2011

A case of Proteus syndrome

scientific article published in January 1991

A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

article

A marker for Stevens-Johnson syndrome ...: ethnicity matters

scientific article

A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line

scientific article published on September 2002

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

scientific article

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

scientific article

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

scientific article

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

scientific article

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

scientific article published on March 2014

A previously unreported frameshift ATP2C1 mutation in a generalized Hailey-Hailey disease

scientific article published on 05 December 2019

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

scientific article published on 01 June 2018

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

scientific article published on 01 August 2018

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.

scientific article

Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease

scientific article

Activity of the hSPCA1 Golgi Ca2+ pump is essential for Ca2+-mediated Ca2+ response and cell viability in Darier disease

scientific article published on 01 February 2006

Antisense-mediated exon skipping to reframe transcripts

scientific article

Bacterial pathogens associated with hidradenitis suppurativa, France

scientific article

Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child

scientific article

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

scientific article

Calcium pump disorders of the skin

scientific article

Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.

scientific article published on May 2004

Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome

scientific article

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

scientific article

Characterization of the gene encoding the 100-kDa form of human 2',5' oligoadenylate synthetase.

scientific article

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations

scientific article

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

scientific article

Comparison of 3 type VII collagen (C7) assays for serologic diagnosis of epidermolysis bullosa acquisita (EBA).

scientific article published on 3 March 2016

Confirmation of Linkage of Clouston Syndrome (Hidrotic Ectodermal Dysplasia) to 13q11-q12.1 with Evidence for Multiple Independent Mutations

scientific article published on 01 July 1998

Contribution ofABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

article

Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome

scientific article (publication date: July 2006)

DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence

scientific article published on 01 April 1995

DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences

scientific article published on 02 November 2006

Darier disease : a disease model of impaired calcium homeostasis in the skin

scientific article published on 15 December 2010

Darier's disease: from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency

scientific article

Deciphering the microbiology of hidradenitis suppurativa: a step forward towards understanding an enigmatic inflammatory skin disease

scientific article

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa

scientific article

Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses

scientific article published on 15 September 2003

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

scientific article published on 01 April 1999

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

scientific article published on 19 September 2016

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

scientific article published on 27 November 2019

Early skin biopsy is helpful for the diagnosis and management of neonatal and infantile erythrodermas

scientific article published on 13 July 2009

Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1)

scientific article

Efficacy of ertapenem in severe hidradenitis suppurativa: a pilot study in a cohort of 30 consecutive patients

scientific article

Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing

scientific article

Elastase 2, a key player in the integrity of the epidermal barrier and in Netherton syndrome

scientific article published on August 2010

Epidermolytic Ichthyosis Sine Epidermolysis

scientific article

Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia

scientific article published on June 2015

Expression of 72-kDa Gelatinase (MMP-2), Collagenase (MMP-1), and Tissue Metalloproteinase Inhibitor (TIMP) in Primary Pig Skin Fibroblast Cultures Derived from Radiation-Induced Skin Fibrosis

article

Expression of sarco/endo-plasmic reticulum Ca2+-ATPase type 2 isoforms (SERCA2) in normal human skin and mucosa, and Darier's disease skin

scientific article

Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17

scientific article published on 02 November 2014

First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome

scientific article published on 11 June 2015

Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine

scientific article published on 20 January 2011

Gene polymorphism in Netherton and common atopic disease

scientific article (publication date: October 2001)

Gene therapy for recessive dystrophic epidermolysis bullosa

scientific article published on April 2010

Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 Retroviral Vector

scientific article

Generalized Epidermolytic Hyperkeratosis in Two Unrelated Children from Parents with Localized Linear Form, and Prenatal Diagnosis

scientific article published on 21 September 2006

Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations

scientific article published on 4 August 2014

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

scientific article published in September 1992

Genetics of Atopic Dermatitis

scientific article published on 01 March 2014

Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease

scientific article published on 01 July 2012

Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe

scientific journal article

Grover's disease, despite histological similarity to Darier's disease, does not share an abnormality in the ATP2A2 gene

article

HEK293-based production platform for γ-retroviral (self-inactivating) vectors: application for safe and efficient transfer of COL7A1 cDNA.

scientific article published on December 2014

HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis.

scientific article published on 10 December 2013

HLA-DRB1*01 associated with cutaneous hypersensitivity induced by nevirapine and efavirenz

scientific article

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump

scientific article (publication date: 12 April 2000)

Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels

scientific article

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene

scientific article (publication date: February 2002)

Harlequin ichthyosis unmasked: a defect of lipid transport

scientific article

Hereditary skin diseases: new genetic approaches

scientific article published on 01 February 1992

Heterozygous disruption of SERCA2a is not associated with impairment of cardiac performance in humans: implications for SERCA2a as a therapeutic target in heart failure

scientific article published on 21 April 2005

Identification by in silico and in vitro screenings of small organic molecules acting as reversible inhibitors of kallikreins

scientific article

Identification of a new locus for isolated familial keratoconus at 2p24.

scientific article published on January 2005

IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome

scientific article published on 23 August 2014

Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa.

scientific article

Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes

scientific article published in December 2003

Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea

scientific article (publication date: August 2007)

Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa

scientific article

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

article published in 2013

Infliximab Infusions for Netherton Syndrome: Sustained Clinical Improvement Correlates with a Reduction of Thymic Stromal Lymphopoietin Levels in the Skin

scientific article published on 09 June 2011

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

scientific article

Intercellular skin barrier lipid composition and organization in Netherton syndrome patients.

scientific article

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.

scientific article

KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome

scientific article (publication date: September 2015)

Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome

scientific article published on 04 May 2009

Kallikrein-mediated proteolysis regulates the antimicrobial effects of cathelicidins in skin

scientific article

Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal Mosaicism

scientific article published on 09 October 2008

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

scientific article published on 23 March 2007

LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction

scientific article

LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum

scientific article

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome

scientific article

Lekti Immunochemistry for the Diagnosis of Netherton Syndrome

scientific article published on 01 December 2012

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis

article

Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

scientific article

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

scientific article published on 4 January 2009

Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessiveCOL7A1mutation

scientific article published on 03 February 2016

Mechanistic insight from murine models of Netherton syndrome

scientific article

Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa

scientific article published on 17 February 2016

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

scientific article published in January 2010

Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model

article

Mosaicism for ATP2A2 mutations causes segmental Darier's disease

scientific article

Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia

scientific article

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

scientific article

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

scientific article (publication date: June 2000)

Mutations in the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase isoform cause Darier's disease

scientific article published in September 2003

Netherton syndrome and its multifaceted defective protein LEKTI.

scientific article published on February 2013

Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases

scientific article published in September 2005

Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy

scientific article

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

scientific article (publication date: February 2002)

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

scientific article published on 24 January 2013

Nicastrin Mutations in French Families with Hidradenitis Suppurativa

article

No association between HLA-B and cutaneous reactions to sulphonamides in human immunodeficiency virus-infected patients

scientific article published on 28 June 2008

Novel ABCC6 mutations in pseudoxanthoma elasticum

scientific article published in March 2004

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations

scientific article published on 04 August 2014

Olmsted syndrome: clinical, molecular and therapeutic aspects

scientific article

PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1

article

Pachydermodactyly and atrophia maculosa varioliformis cutis

scientific article

Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model.

scientific article published on 12 August 2010

Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature

scientific article

Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.

scientific article published on July 1995

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis

scientific article published in February 2002

Proteases and proteomics: cutting to the core of human skin pathologies

scientific article published on 13 April 2014

Proteases: common culprits in human skin disorders

scientific article published on 28 December 2013

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

scientific article

Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing

scientific article published on 01 March 2006

Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region

scientific article

Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patients

scientific article published on November 2015

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

scientific article

Role of Sp1 response element in transcription of the human transglutaminase 1 gene

scientific article published on July 2000

SERCA pumps and human diseases.

scientific article published on January 2007

SERCA2 dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat

scientific article published on 3 January 2014

SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa

scientific article published on 18 May 2010

SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing

scientific article

Selective Substrates and Inhibitors for Kallikrein-Related Peptidase 7 (KLK7) Shed Light on KLK Proteolytic Activity in the Stratum Corneum

scientific article published on 30 September 2016

Severe hypernatremic dehydration in an infant with Netherton syndrome

scientific article published in January 2001

Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.

scientific article published on February 2016

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

scientific article

Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

scientific article

Stable integration of large (>100 kb) PAC constructs in HaCaT keratinocytes using an integrin-targeting peptide delivery system.

scientific article

Stable integration of large PAC constructs in keratinocytes

scientific article published in January 2005

Systemic protein therapy for recessive dystrophic epidermolysis bullosa: how far are we from clinical translation?

scientific article

TLR3 deficiency in patients with herpes simplex encephalitis

scientific article

TSLP-activated dendritic cells induce human T follicular helper cell differentiation through OX40-ligand

scientific article published on 20 April 2017

Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model

scientific article published on 3 August 2016

The 100-kDa 2',5'-oligoadenylate synthetase catalyzing preferentially the synthesis of dimeric pppA2'p5'A molecules is composed of three homologous domains

scientific article

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

scientific article

The Molecular Revolution in Cutaneous Biology: Emerging Landscape in Genomic Dermatology: New Mechanistic Ideas, Gene Editing, and Therapeutic Breakthroughs

scientific article published on May 2017

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

scientific article

The human 2',5'-oligoadenylate synthetase locus is composed of three distinct genes clustered on chromosome 12q24.2 encoding the 100-, 69-, and 40-kDa forms

scientific article

The human 2',5'-oligoadenylate synthetase-like gene (OASL) encoding the interferon-induced 56-kDa protein maps to chromosome 12q24.2 in the proximity of the 2',5'-OAS locus

scientific article (publication date: 15 March 1999)

The microbiological landscape of anaerobic infections in Hidradenitis Suppurativa: a prospective metagenomic study

scientific article

The molecular genetics of dystrophic epidermolysis bullosa

scientific article

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis

scientific article (publication date: August 2001)

Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene

article

Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity

scientific article published on July 1, 1997

Three-dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology

scholarly article by Claire Tourette published in April 2012

Topical recombinant alpha1-antitrypsin: a potential treatment for Netherton syndrome?

scientific article published in March 2006

Toward the first class of suicide inhibitors of kallikreins involved in skin diseases

scientific article published on 22 December 2014

Transcription factor E4F1 is essential for epidermal stem cell maintenance and skin homeostasis.

scientific article

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

scientific article published on 17 February 2014

Up-regulation of transient receptor potential canonical 1 (TRPC1) following sarco(endo)plasmic reticulum Ca2+ ATPase 2 gene silencing promotes cell survival: a potential role for TRPC1 in Darier's disease.

scientific article

Von Recklinghausen neurofibromatosis gene (NF1) and its product

scientific article published in January 1992

When activity requires breaking up: LEKTI proteolytic activation cascade for specific proteinase inhibition

scientific article

[3D echocardiography of the ascending aorta in Marfan's syndrome]

scientific article published on 01 May 2005

[Hereditary epidermolysis bullosa: towards classification and genetic counseling based upon identification of molecular defects]

scientific article published on 01 November 1994

[Netherton syndrome: a model for studying the regulation of the desquamation process].

scientific article published in May 2005

[Prenatal diagnosis of cutaneous genetic diseases by the study of fetal DNA]

scientific article published on 01 January 1995

siRNA-Mediated Allele-Specific Inhibition of Mutant Type VII Collagen in Dominant Dystrophic Epidermolysis Bullosa

scientific article published on 16 February 2012

‘Matchstick’ eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome

scientific article published on 15 October 2009

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