List of works - Lucio Nitsch

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

scientific article

A dynamic podosome-like structure of epithelial cells

scientific journal article

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.

scientific article

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

scientific article published on 30 April 2017

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

scientific article

An emerging phenotype of proximal 11q deletions ⬇️

scientific article published on August 3, 2010

CDH16/Ksp-cadherin is expressed in the developing thyroid gland and is strongly down-regulated in thyroid carcinomas

scientific article

Caveolin transfection results in caveolae formation but not apical sorting of glycosylphosphatidylinositol (GPI)-anchored proteins in epithelial cells.

scientific article

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

scientific article published on 27 February 2019

Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects

scientific article published on 20 December 2012

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

scientific article published on 09 March 2012

Clinical phenotype, immunological abnormalities and genomic findings in patients with DiGeorge spectrum phenotype without 22q11.2 deletion

scientific article published on 12 July 2020

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

scientific article published on 19 December 2013

Conditional inactivation of the E-cadherin gene in thyroid follicular cells affects gland development but does not impair junction formation.

scientific article published on 8 March 2007

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

scientific article published on 13 September 2013

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

scientific article

Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

scientific article published on 27 July 2020

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

article

DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.

scientific article

Differential recognition of a tyrosine-dependent signal in the basolateral and endocytic pathways of thyroid epithelial cells

scientific article published in April 2002

Erratum to: In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1.

scientific article published on 23 August 2016

Essential stations in the intracellular pathway of cytotoxic bovine seminal ribonuclease

scientific article published on March 2002

Functional inactivation of the transcription factor Pax8 through oligomerization chain reaction

scientific article published on 13 April 2006

Functional interaction between p75NTR and TrkA: the endocytic trafficking of p75NTR is driven by TrkA and regulates TrkA-mediated signalling

scientific article published on January 2005

Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis

scientific article

In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1.

scientific article

Intracellular route and mechanism of action of ERB-hRNase, a human anti-ErbB2 anticancer immunoagent

scientific article published on 2 January 2007

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

scientific article published on 01 June 2009

Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

scientific article published on 01 August 2004

Let-7a down-regulation plays a role in thyroid neoplasias of follicular histotype affecting cell adhesion and migration through its ability to target the FXYD5 (Dysadherin) gene

scientific article published on 10 September 2012

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

scientific article published on 15 January 2014

Mechanisms of apical protein sorting in polarized thyroid epithelial cells

scientific article published on April 1999

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

scientific article published on 10 June 2011

Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells

scientific article published on 13 January 2017

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

scientific article published on 31 May 2019

Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.

scientific article published on 15 March 2018

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

scientific article

NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome

scientific article published on 3 April 2014

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

scientific article

Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses.

scientific article

Overexpression of the Hsa21 Transcription Factor RUNX1 Modulates the Extracellular Matrix in Trisomy 21 Cells

scientific article published on 10 March 2022

PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts

scientific article published on 27 June 2019

Pax8 protein stability is controlled by sumoylation

scientific article published on 30 October 2008

Physiology, pathology and relatedness of human tissues from gene expression meta-analysis

scientific article

Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

scientific article published on 28 June 2019

Polarized secretion of plasminogen activators by epithelial cell monolayers

scientific article published on December 1992

PrP(C) association with lipid rafts in the early secretory pathway stabilizes its cellular conformation

scientific article published on 30 June 2004

PrPC is sorted to the basolateral membrane of epithelial cells independently of its association with rafts

scientific article published on November 2002

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report.

scientific article published on 9 February 2018

Protein oligomerization modulates raft partitioning and apical sorting of GPI-anchored proteins

scientific article

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

scientific article published on August 2013

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

article

Rab7 Regulates CDH1 Endocytosis, Circular Dorsal Ruffles Genesis, and Thyroglobulin Internalization in a Thyroid Cell Line

scientific article published on 24 November 2015

Regulation of sub-compartmental targeting and folding properties of the Prion-like protein Shadoo

scientific article

Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring

scientific article

Short 9q interstitial deletion in a neonate with lethal non-immune hydrops

scientific article published on 01 October 2008

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

scientific article published on 15 July 2015

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

scientific article published on 13 August 2008

Targeting Mitochondrial Network Architecture in Down Syndrome and Aging

scientific article published on 29 April 2020

The 37/67 kDa laminin receptor (LR) inhibitor, NSC47924, affects 37/67 kDa LR cell surface localization and interaction with the cellular prion protein.

scientific article published on 13 April 2016

The microRNA-processing enzyme Dicer is essential for thyroid function

scientific article

The neuroendocrine protein VGF is sorted into dense-core granules and is secreted apically by polarized rat thyroid epithelial cells

scientific article published in April 2004

The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription

scientific article (publication date: 31 January 2003)

The ribonuclease/angiogenin inhibitor is also present in mitochondria and nuclei

scientific article published on 26 January 2011

The role of proteases in fibronectin matrix remodeling in thyroid epithelial cell monolayer cultures.

scientific article

The transcriptional repressor DREAM is involved in thyroid gene expression

scientific article

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.

scientific article published in October 2011

Wide gene expression profiling of ischemia-reperfusion injury in human liver transplantation

article

List of works by Lucio Nitsch

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

A dynamic podosome-like structure of epithelial cells

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

An emerging phenotype of proximal 11q deletions ⬇️

CDH16/Ksp-cadherin is expressed in the developing thyroid gland and is strongly down-regulated in thyroid carcinomas

Caveolin transfection results in caveolae formation but not apical sorting of glycosylphosphatidylinositol (GPI)-anchored proteins in epithelial cells.

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

Clinical phenotype, immunological abnormalities and genomic findings in patients with DiGeorge spectrum phenotype without 22q11.2 deletion

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

Conditional inactivation of the E-cadherin gene in thyroid follicular cells affects gland development but does not impair junction formation.

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.

Differential recognition of a tyrosine-dependent signal in the basolateral and endocytic pathways of thyroid epithelial cells

Erratum to: In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1.

Essential stations in the intracellular pathway of cytotoxic bovine seminal ribonuclease

Functional inactivation of the transcription factor Pax8 through oligomerization chain reaction

Functional interaction between p75NTR and TrkA: the endocytic trafficking of p75NTR is driven by TrkA and regulates TrkA-mediated signalling

Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis

In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1.

Intracellular route and mechanism of action of ERB-hRNase, a human anti-ErbB2 anticancer immunoagent

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

Let-7a down-regulation plays a role in thyroid neoplasias of follicular histotype affecting cell adhesion and migration through its ability to target the FXYD5 (Dysadherin) gene

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Mechanisms of apical protein sorting in polarized thyroid epithelial cells

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses.

Overexpression of the Hsa21 Transcription Factor RUNX1 Modulates the Extracellular Matrix in Trisomy 21 Cells

PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts

Pax8 protein stability is controlled by sumoylation

Physiology, pathology and relatedness of human tissues from gene expression meta-analysis

Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

Polarized secretion of plasminogen activators by epithelial cell monolayers

PrP(C) association with lipid rafts in the early secretory pathway stabilizes its cellular conformation

PrPC is sorted to the basolateral membrane of epithelial cells independently of its association with rafts

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report.

Protein oligomerization modulates raft partitioning and apical sorting of GPI-anchored proteins

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

Rab7 Regulates CDH1 Endocytosis, Circular Dorsal Ruffles Genesis, and Thyroglobulin Internalization in a Thyroid Cell Line

Regulation of sub-compartmental targeting and folding properties of the Prion-like protein Shadoo

Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring

Short 9q interstitial deletion in a neonate with lethal non-immune hydrops

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

Targeting Mitochondrial Network Architecture in Down Syndrome and Aging

The 37/67 kDa laminin receptor (LR) inhibitor, NSC47924, affects 37/67 kDa LR cell surface localization and interaction with the cellular prion protein.

The microRNA-processing enzyme Dicer is essential for thyroid function

The neuroendocrine protein VGF is sorted into dense-core granules and is secreted apically by polarized rat thyroid epithelial cells

The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription

The ribonuclease/angiogenin inhibitor is also present in mitochondria and nuclei

The role of proteases in fibronectin matrix remodeling in thyroid epithelial cell monolayer cultures.

The transcriptional repressor DREAM is involved in thyroid gene expression

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.

Wide gene expression profiling of ischemia-reperfusion injury in human liver transplantation