List of works - Annachiara De Sandre-Giovannoli

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

scientific article published on 27 January 2011

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

scientific article published on 14 October 2016

A New Lamin A Mutation Associated with Acrogeria Syndrome

scientific article published on 01 April 2014

A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

scientific article

A conserved splicing mechanism of the LMNA gene controls premature aging.

scientific article published on 29 August 2011

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene

scientific article published on 16 February 2016

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

scientific article published on 29 May 2013

Altered splicing in prelamin A-associated premature aging phenotypes

scientific article published on January 2006

An association of Hutchinson–Gilford progeria and malignancy

scientific article published on 01 August 2007

An inheritedLMNAgene mutation in atypical Progeria syndrome

scientific article published on 18 September 2012

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

scientific article published on 11 November 2015

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.

scientific article published in January 2018

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells

scientific article published on 11 July 2016

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

scientific article published in March 2005

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 19 October 2020

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

scientific article published on 29 August 2018

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

scientific article published on 03 June 2019

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation.

scientific article

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

scientific article

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

scientific article

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

scientific article published on 06 March 2020

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

scientific article published on 6 June 2008

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

scientific article

HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches

scientific article published on 12 April 2008

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

scientific article

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

scientific article

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

scientific article published on 14 February 2019

Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome

scientific article published on 05 March 2014

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

scientific article

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

scientific article

Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis

scientific article published on 06 December 2018

Lamin a truncation in Hutchinson-Gilford progeria.

scientific article

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 11 September 2020

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

scientific article

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status.

scientific article published on 14 August 2017

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

scientific article published on 3 July 2017

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.

scientific article

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

scientific article published on January 2006

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

scientific article

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

scientific article published on 18 December 2008

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

scientific article published on 22 June 2016

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

article

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

scientific article published on 22 March 2014

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

scientific article published on 11 December 2019

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes.

scientific article published on 14 June 2018

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

scientific article

Restrictive dermopathy in a Turkish newborn

scientific article published on 2 December 2010

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

article

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

scientific article

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

scientific article published on 22 February 2005

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

scientific article published on 4 February 2015

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

scientific article

Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

scientific article published on 21 June 2012

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

scientific article published on 17 August 2020

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

scientific article published on 28 March 2014

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope].

scientific article published on 6 November 2015

List of works by Annachiara De Sandre-Giovannoli

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

A New Lamin A Mutation Associated with Acrogeria Syndrome

A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

A conserved splicing mechanism of the LMNA gene controls premature aging.

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

Altered splicing in prelamin A-associated premature aging phenotypes

An association of Hutchinson–Gilford progeria and malignancy

An inheritedLMNAgene mutation in atypical Progeria syndrome

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation.

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis

Lamin a truncation in Hutchinson-Gilford progeria.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status.

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes.

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

Restrictive dermopathy in a Turkish newborn

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope].