List of works - Alessandro Terrinoni

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

scientific article

A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis

scientific article

Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis

scientific article published on 01 November 2014

Accumulation of transposable elements in the heterochromatin and on the Y chromosome of Drosophila simulans and Drosophila melanogaster.

scientific article published in June 1998

Additional complexity in p73: induction by mitogens in lymphoid cells and identification of two new splicing variants ε and ζ

scientific article published on 01 May 1999

An SRY-negative XX male with Huriez syndrome.

scientific article published on January 2000

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

scientific article published in June 2004

Birt-Hogg-Dubé syndrome, from non-invasive dermatologic assessment to gene testing, molecular and ultrastructural histologic analysis

scientific article published on 05 February 2020

Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.

scientific article

Characterization of TG2 and TG1-TG2 double knock-out mouse epidermis

scientific article published on 18 November 2016

Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss

scientific article published on 20 March 2010

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

scientific article published on 15 March 2010

Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease

scientific article published on 22 April 2015

Cyclin D1 gene contains a cryptic promoter that is functional in human cancer cells.

scientific article published in July 2001

Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas.

scientific article

Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias.

scientific article published on 7 June 2011

Differential roles of p63 isoforms in epidermal development: selective genetic complementation in p63 null mice

scientific journal article

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

scholarly article published in Nature Genetics

Erratum: OTX1 expression in breast cancer is regulated by p53

scientific article published in March 2014

Erratum: OTX1 expression in breast cancer is regulated by p53

scholarly article published in Oncogene

Expression of transglutaminase 5 in normal and pathologic human epidermis

scientific article published on 01 September 2002

FLASH is required for histone transcription and S-phase progression

scientific article

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

scientific article published on 8 November 2011

How biomarkers can improve pneumonia diagnosis and prognosis: procalcitonin and mid-regional-pro-adrenomedullin

scientific article published on 28 May 2020

Identification of Transglutaminase 3 Splicing Isoforms

scientific article published in July 2007

Inhibition of homologous recombination by treatment with BVDU (brivudin) or by RAD51 silencing increases chromosomal damage induced by bleomycin in mismatch repair-deficient tumour cells.

scientific article

Intragenomic distribution and stability of transposable elements in euchromatin and heterochromatin of Drosophila melanogaster: elements with inverted repeats Bari 1, hobo, and pogo.

scientific article published in September 1997

Intragenomic distribution and stability of transposable elements in euchromatin and heterochromatin of Drosophila melanogaster: non-LTR retrotransposon.

scientific article published in August 1997

Investigational drugs currently in phase II clinical trials for actinic keratosis

scientific article published on 04 July 2019

Involvement of the Endocannabinoid System in Retinal Damage after High Intraocular Pressure–Induced Ischemia in Rats

scientific article published in July 2007

Kaposi's sarcoma in a patient treated with imatinib mesylate for chronic myeloid leukemia

scientific article published in November 2009

Loss of p63 and its microRNA-205 target results in enhanced cell migration and metastasis in prostate cancer

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

Luteolin-7-glucoside inhibits IL-22/STAT3 pathway, reducing proliferation, acanthosis, and inflammation in keratinocytes and in mouse psoriatic model

scientific article published on 18 August 2016

Mechanism of induction of apoptosis by p73 and its relevance to neuroblastoma biology

scientific article

MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1.

scientific article published on 28 September 2009

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online

scientific article published in November 2007

Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal

scientific article

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome

scientific article

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

scientific article

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

scientific article

OTX1 expression in breast cancer is regulated by p53.

scientific article published on 11 April 2011

PIAS-1 is a checkpoint regulator which affects exit from G1 and G2 by sumoylation of p73

scientific article

PIR2/Rnf144B regulates epithelial homeostasis by mediating degradation of p21WAF1 and p63.

scientific article

Peculiar clinical and dermoscopic remission pattern following imiquimod therapy of basal cell carcinoma in seborrhoeic areas of the face

scientific article published on January 2009

Potentially active copies of the gypsy retroelement are confined to the Y chromosome of some strains of Drosophila melanogaster possibly as the result of the female-specific effect of the flamenco gene.

scientific article published in April 1998

Procalcitonin and MR-proAdrenomedullin combination in the etiological diagnosis and prognosis of sepsis and septic shock

scientific article published on 28 September 2019

Role of p63 and the Notch pathway in cochlea development and sensorineural deafness

scientific article

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

scientific article published on 24 April 2018

Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient

scientific article published in September 2002

Roles for p53 and p73 during oligodendrocyte development

scientific journal article

Severe erytrodermic psoriasis in child twins: from clinical-pathological diagnosis to treatment of choice through genetic analyses: two case reports.

scientific article

TAp63alpha induces apoptosis by activating signaling via death receptors and mitochondria

scientific article

The E3 ligase Itch knockout mice show hyperproliferation and wound healing alteration.

scientific article published on 12 September 2015

The circulating miRNAs as diagnostic and prognostic markers

scientific article published on 01 June 2019

The mammary gland and the homeobox gene Otx1.

scientific article published on September 2010

The relevance of piroxicam for the prevention and treatment of nonmelanoma skin cancer and its precursors

scientific article

The sterile alpha-motif (SAM) domain of p63 binds in vitro monoasialoganglioside (GM1) micelles.

scientific article

Transglutaminase 3 Protects against Photodamage

scientific article published on 16 March 2017

Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro

scientific article (publication date: 14 September 2001)

Transglutaminase 5 is regulated by guanine-adenine nucleotides.

scientific article published on July 2004

Two new p73 splice variants, gamma and delta, with different transcriptional activity.

scientific article

Type I lamellar ichthyosis improved by tazarotene 0.1% gel.

scientific article

miR-24 triggers epidermal differentiation by controlling actin adhesion and cell migration

scientific article

p63 and p73 transactivate differentiation gene promoters in human keratinocytes

scientific article published on June 2000

p63 and p73, members of the p53 gene family, transactivate PKCdelta.

scientific article published on 7 September 2006

p63 regulates glutaminase 2 expression.

scientific article published on 10 April 2013

p73-alpha is capable of inducing scotin and ER stress

scientific article published in April 2004

pRb2/p130 promotes radiation-induced cell death in the glioblastoma cell line HJC12 by p73 upregulation and Bcl-2 downregulation

scientific article published on August 2002

List of works by Alessandro Terrinoni

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis

Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis

Accumulation of transposable elements in the heterochromatin and on the Y chromosome of Drosophila simulans and Drosophila melanogaster.

Additional complexity in p73: induction by mitogens in lymphoid cells and identification of two new splicing variants ε and ζ

An SRY-negative XX male with Huriez syndrome.

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

Birt-Hogg-Dubé syndrome, from non-invasive dermatologic assessment to gene testing, molecular and ultrastructural histologic analysis

Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.

Characterization of TG2 and TG1-TG2 double knock-out mouse epidermis

Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease

Cyclin D1 gene contains a cryptic promoter that is functional in human cancer cells.

Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas.

Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias.

Differential roles of p63 isoforms in epidermal development: selective genetic complementation in p63 null mice

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

Erratum: OTX1 expression in breast cancer is regulated by p53

Erratum: OTX1 expression in breast cancer is regulated by p53

Expression of transglutaminase 5 in normal and pathologic human epidermis

FLASH is required for histone transcription and S-phase progression

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

How biomarkers can improve pneumonia diagnosis and prognosis: procalcitonin and mid-regional-pro-adrenomedullin

Identification of Transglutaminase 3 Splicing Isoforms

Inhibition of homologous recombination by treatment with BVDU (brivudin) or by RAD51 silencing increases chromosomal damage induced by bleomycin in mismatch repair-deficient tumour cells.

Intragenomic distribution and stability of transposable elements in euchromatin and heterochromatin of Drosophila melanogaster: elements with inverted repeats Bari 1, hobo, and pogo.

Intragenomic distribution and stability of transposable elements in euchromatin and heterochromatin of Drosophila melanogaster: non-LTR retrotransposon.

Investigational drugs currently in phase II clinical trials for actinic keratosis

Involvement of the Endocannabinoid System in Retinal Damage after High Intraocular Pressure–Induced Ischemia in Rats

Kaposi's sarcoma in a patient treated with imatinib mesylate for chronic myeloid leukemia

Loss of p63 and its microRNA-205 target results in enhanced cell migration and metastasis in prostate cancer

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

Luteolin-7-glucoside inhibits IL-22/STAT3 pathway, reducing proliferation, acanthosis, and inflammation in keratinocytes and in mouse psoriatic model

Mechanism of induction of apoptosis by p73 and its relevance to neuroblastoma biology

MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1.

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online

Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

OTX1 expression in breast cancer is regulated by p53.

PIAS-1 is a checkpoint regulator which affects exit from G1 and G2 by sumoylation of p73

PIR2/Rnf144B regulates epithelial homeostasis by mediating degradation of p21WAF1 and p63.

Peculiar clinical and dermoscopic remission pattern following imiquimod therapy of basal cell carcinoma in seborrhoeic areas of the face

Potentially active copies of the gypsy retroelement are confined to the Y chromosome of some strains of Drosophila melanogaster possibly as the result of the female-specific effect of the flamenco gene.

Procalcitonin and MR-proAdrenomedullin combination in the etiological diagnosis and prognosis of sepsis and septic shock

Role of p63 and the Notch pathway in cochlea development and sensorineural deafness

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient

Roles for p53 and p73 during oligodendrocyte development

Severe erytrodermic psoriasis in child twins: from clinical-pathological diagnosis to treatment of choice through genetic analyses: two case reports.

TAp63alpha induces apoptosis by activating signaling via death receptors and mitochondria

The E3 ligase Itch knockout mice show hyperproliferation and wound healing alteration.

The circulating miRNAs as diagnostic and prognostic markers

The mammary gland and the homeobox gene Otx1.

The relevance of piroxicam for the prevention and treatment of nonmelanoma skin cancer and its precursors

The sterile alpha-motif (SAM) domain of p63 binds in vitro monoasialoganglioside (GM1) micelles.

Transglutaminase 3 Protects against Photodamage

Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro

Transglutaminase 5 is regulated by guanine-adenine nucleotides.

Two new p73 splice variants, gamma and delta, with different transcriptional activity.

Type I lamellar ichthyosis improved by tazarotene 0.1% gel.

miR-24 triggers epidermal differentiation by controlling actin adhesion and cell migration

p63 and p73 transactivate differentiation gene promoters in human keratinocytes

p63 and p73, members of the p53 gene family, transactivate PKCdelta.

p63 regulates glutaminase 2 expression.

p73-alpha is capable of inducing scotin and ER stress

pRb2/p130 promotes radiation-induced cell death in the glioblastoma cell line HJC12 by p73 upregulation and Bcl-2 downregulation