List of works - Lucia Micale

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

scientific article published on 15 December 2014

A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

scientific article published on 28 February 2013

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

scientific article

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish

scientific article (publication date: 2012)

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

scientific article published on 20 February 2019

AQP4 Aggregation State Is a Determinant for Glioma Cell Fate

scientific article published on 15 March 2019

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

scientific article published on 6 July 2012

Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?

scientific article published on 25 September 2011

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma

article

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

scientific article

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

scientific article published on 12 December 2019

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders ⬇️

scientific article published on 10 June 2019

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome

scientific article published on 28 December 2020

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

scientific article published in 2021

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

scientific article published on May 2010

Dissecting KMT2D missense mutations in Kabuki syndrome patients

scientific article published on 01 November 2018

Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

scientific article published on 17 December 2020

Expression of base excision repair key factors and miR17 in familial and sporadic breast cancer

scientific article published on 20 February 2014

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

HDAC6 mediates the acetylation of TRIM50.

scientific article published on 2 December 2013

Identification of p53-target genes in Danio rerio

scientific article published on September 2016

Loss of Pol32 in Drosophila melanogaster causes chromosome instability and suppresses variegation

scientific article

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

scientific article published on 26 April 2013

MicroRNA expression profiling in male and female familial breast cancer.

scientific article

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

scientific article

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

scientific article published on 01 November 2019

Morgana/chp-1, a ROCK inhibitor involved in centrosome duplication and tumorigenesis

scientific article

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

scientific article published on 01 July 2019

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

scientific article published on 25 November 2019

Peroxisome proliferator-activated receptor γ-mediated induction of microRNA-145 opposes tumor phenotype in colorectal cancer

scientific article published on 11 March 2014

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

scientific article published on 20 July 2020

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

scientific article published on 30 January 2013

Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

scientific article published on 01 May 2020

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

scientific article published on 27 June 2019

TRIM50 regulates Beclin 1 proautophagic activity.

scientific article published on 28 March 2018

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival

scientific article published on 16 June 2015

TRIM8 modulates p53 activity to dictate cell cycle arrest.

scientific article published on February 2012

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

scientific article published on 05 December 2018

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome

scientific article

VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.

scientific article

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

scientific article

miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype

scientific article published on 30 June 2016

List of works by Lucia Micale

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

AQP4 Aggregation State Is a Determinant for Glioma Cell Fate

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders ⬇️

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Dissecting KMT2D missense mutations in Kabuki syndrome patients

Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

Expression of base excision repair key factors and miR17 in familial and sporadic breast cancer

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

HDAC6 mediates the acetylation of TRIM50.

Identification of p53-target genes in Danio rerio

Loss of Pol32 in Drosophila melanogaster causes chromosome instability and suppresses variegation

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

MicroRNA expression profiling in male and female familial breast cancer.

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

Morgana/chp-1, a ROCK inhibitor involved in centrosome duplication and tumorigenesis

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

Peroxisome proliferator-activated receptor γ-mediated induction of microRNA-145 opposes tumor phenotype in colorectal cancer

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

TRIM50 regulates Beclin 1 proautophagic activity.

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival

TRIM8 modulates p53 activity to dictate cell cycle arrest.

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome

VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype