Lista de obras - Barbara Bardoni - Dominio Público Uruguay

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

artículo científico publicado en 2003

A TaqI RFLP detecting single copy fragment (G80) from chromosome 7 p13-p15 (D7S373).

artículo científico publicado en 1987

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

artículo científico publicado en 1991

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

artículo científico publicado en 2001

A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model

artículo científico publicado en 2011

A new cis-acting motif is required for the axonal SMN-dependent Anxa2 mRNA localization.

artículo científico publicado en 2017

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

artículo científico publicado en 1999

A novel function for fragile X mental retardation protein in translational activation

scientific journal article

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

artículo científico publicado en 2002

Agonist-induced Functional Analysis and Cell Sorting coupled with single-cell transcriptomics characterizes cell subtypes in normal and pathological brain

scientific article published on 24 September 2020

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

artículo científico publicado en 1994

Analysis of domains affecting intracellular localization of the FMRP protein.

artículo científico publicado en 1997

Applied RNAi: from fundamental research to therapeutic applications.

artículo científico publicado en 2014

Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.

artículo científico publicado en 2000

Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles

scholarly article

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.

artículo científico publicado en 2014

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

artículo científico publicado en 2003

CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion

artículo científico publicado en 2004

Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era

artículo científico publicado en 2019

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

scientific article published on 01 December 1989

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

scientific article published on 01 December 1989

Dax-1 knockdown in mouse embryonic stem cells induces loss of pluripotency and multilineage differentiation

artículo científico publicado en 2009

Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins.

artículo científico publicado en 2015

Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis

artículo científico publicado en 2016

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

artículo científico publicado en 1995

Editorial

Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss)

article

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

artículo científico publicado en 2005

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

artículo científico publicado en 2009

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

artículo científico publicado en 2016

Fragile X Mental Retardation Protein: To Be or Not to Be a Translational Enhancer

artículo científico publicado en 2018

Fragile X Syndrome: from molecular pathology to therapy

artículo científico

Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development

artículo científico publicado en 2015

Fragile X related protein 1 isoforms differentially modulate the affinity of fragile X mental retardation protein for G-quartet RNA structure ⬇️

scientific journal article

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

scientific article published on 01 May 1993

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo

scientific journal article

HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein

artículo científico publicado en 2018

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

artículo científico publicado en 2015

Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario.

artículo científico

Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome

scientific article published on 01 July 2019

Is bilateral congenital anorchia genetically determined?

scientific article published on 01 October 1999

Isolation and characterization of a family of sequences dispersed on the human X chromosome

artículo científico publicado en 1988

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene

artículo científico publicado en 1992

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

artículo científico publicado en 1992

Modeling Fragile X Syndrome in Drosophila.

artículo científico publicado en 2018

Modeling Fragile X syndrome in neurogenesis: An unexpected phenotype and a novel tool for future therapies

artículo científico publicado en 2017

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation ⬇️

artículo científico publicado el 31 de octubre de 1997

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

artículo científico publicado en 2003

New Insights Into the Role of Ca2 Protein Family in Calcium Flux Deregulation in -KO Neurons

artículo científico publicado en 2018

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

artículo científico publicado en 2017

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

artículo científico publicado en 2000

Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder

artículo científico publicado en 2022

Quantitative phosphoproteomics of murine Fmr1-KO cell lines provides new insights into FMRP-dependent signal transduction mechanisms.

artículo científico publicado en 2014

Role of phosphodiesterases in the pathophysiology of neurodevelopmental disorders

scientific article published on 07 January 2021

Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.

artículo científico publicado en 2018

The FMRP/GRK4 mRNA interaction uncovers a new mode of binding of the Fragile X mental retardation protein in cerebellum

artículo científico publicado en 2015

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

artículo científico publicado en 2003

The Search for an Effective Therapy to Treat Fragile X Syndrome: Dream or Reality?

artículo científico publicado en 2017

The fragile X syndrome: exploring its molecular basis and seeking a treatment.

artículo científico publicado en 2006

The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons

scientific journal article

Translating molecular advances in Down syndrome and Fragile X syndrome into therapies

artículo científico publicado en 2018

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

artículo científico publicado en 1990

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers

artículo científico publicado en 1995

Two sisters with 45,X karyotype: influence of genomic imprinting on phenotype and cognitive profile

artículo científico publicado en 2002

Visual search of neuropil-enriched RNAs from brain in situ hybridization data through the image analysis pipeline hippo-ATESC.

artículo científico publicado en 2013

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

artículo científico publicado en 2004

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region

artículo científico publicado en 1991

[Genomic imprinting in two adolescent sisters with Turner's syndrome]

scientific article published on 01 October 2001

Lista de obras de Barbara Bardoni

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

A TaqI RFLP detecting single copy fragment (G80) from chromosome 7 p13-p15 (D7S373).

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model

A new cis-acting motif is required for the axonal SMN-dependent Anxa2 mRNA localization.

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

A novel function for fragile X mental retardation protein in translational activation

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

Agonist-induced Functional Analysis and Cell Sorting coupled with single-cell transcriptomics characterizes cell subtypes in normal and pathological brain

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Analysis of domains affecting intracellular localization of the FMRP protein.

Applied RNAi: from fundamental research to therapeutic applications.

Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.

Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion

Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

Dax-1 knockdown in mouse embryonic stem cells induces loss of pluripotency and multilineage differentiation

Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins.

Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

Editorial

Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss)

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

Fragile X Mental Retardation Protein: To Be or Not to Be a Translational Enhancer

Fragile X Syndrome: from molecular pathology to therapy

Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development

Fragile X related protein 1 isoforms differentially modulate the affinity of fragile X mental retardation protein for G-quartet RNA structure ⬇️

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo

HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario.

Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome

Is bilateral congenital anorchia genetically determined?

Isolation and characterization of a family of sequences dispersed on the human X chromosome

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

Modeling Fragile X Syndrome in Drosophila.

Modeling Fragile X syndrome in neurogenesis: An unexpected phenotype and a novel tool for future therapies

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation ⬇️

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

New Insights Into the Role of Ca2 Protein Family in Calcium Flux Deregulation in -KO Neurons

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder

Quantitative phosphoproteomics of murine Fmr1-KO cell lines provides new insights into FMRP-dependent signal transduction mechanisms.

Role of phosphodiesterases in the pathophysiology of neurodevelopmental disorders

Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.

The FMRP/GRK4 mRNA interaction uncovers a new mode of binding of the Fragile X mental retardation protein in cerebellum

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

The Search for an Effective Therapy to Treat Fragile X Syndrome: Dream or Reality?

The fragile X syndrome: exploring its molecular basis and seeking a treatment.

The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons

Translating molecular advances in Down syndrome and Fragile X syndrome into therapies

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers

Two sisters with 45,X karyotype: influence of genomic imprinting on phenotype and cognitive profile

Visual search of neuropil-enriched RNAs from brain in situ hybridization data through the image analysis pipeline hippo-ATESC.

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region

[Genomic imprinting in two adolescent sisters with Turner's syndrome]