List of works - Alain Hovnanian

TLR3 deficiency in patients with herpes simplex encephalitis

scientific article

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

scientific article

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

scientific article (publication date: June 2000)

Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea

scientific article (publication date: August 2007)

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

scientific article

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 04 May 2009

Gene polymorphism in Netherton and common atopic disease

scientific article (publication date: October 2001)

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

scientific article

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

scientific article (publication date: 12 April 2000)

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

scientific article

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

scientific article

Induced pluripotent stem cells from individuals 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

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

scientific article

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

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

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

scientific article

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

scientific article (publication date: July 2006)

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

scientific article (publication date: February 2002)

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

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

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

scientific article

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

scientific article

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

scientific article published in September 1992

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

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

scientific article published on January 24, 2013

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)

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

scientific article

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

scientific article

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

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

scientific journal 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

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

scientific article published on 23 March 2007

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

scientific article published on January 2005

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

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

SERCA pumps and human diseases.

scientific article published on January 2007

Mosaicism for ATP2A2 mutations causes segmental Darier's disease

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

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

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

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

scientific article published on May 2004

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

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

scientific article

Novel ABCC6 mutations in pseudoxanthoma elasticum

scientific article published in March 2004

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

scientific article published on 20 April 2017

List of works by Alain Hovnanian

TLR3 deficiency in patients with herpes simplex encephalitis

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

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

Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea

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

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

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

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

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

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

Gene polymorphism in Netherton and common atopic disease

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

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

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

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

Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

SERCA pumps and human diseases.

Mosaicism for ATP2A2 mutations causes segmental Darier's disease

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

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

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

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

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

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

Novel ABCC6 mutations in pseudoxanthoma elasticum

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