Lista de obras - Brunella Franco - Dominio Público Uruguay

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

artículo científico publicado en 1995

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

artículo científico publicado en 2000

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin

artículo científico publicado en 1997

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

scientific article published on 01 October 1995

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

scientific journal article

Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites

artículo científico publicado en 2013

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

artículo científico publicado en 2016

Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters with Orofaciodigital Syndrome Type I

article

C5orf42 is the major gene responsible for OFD syndrome type VI.

artículo científico publicado en 2013

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders

artículo científico publicado en 2005

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

artículo científico publicado en 2014

Cerebral dysgenesis does not exclude OFD I syndrome

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.

artículo científico publicado en 1999

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.

artículo científico publicado en 2003

CiliaCarta: An integrated and validated compendium of ciliary genes

artículo científico publicado en 2019

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

artículo científico publicado en 2014

Construction of a YAC Contig Covering Human Chromosome 6p22

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

artículo científico publicado en 2001

Correction: the buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

artículo científico publicado en 2013

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

artículo científico publicado en 2013

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

artículo científico publicado en 1995

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

artículo científico publicado en 1997

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

artículo científico publicado en 2017

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

scientific journal article

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

artículo científico publicado en 2016

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

article

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

artículo científico publicado en 1998

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes

artículo científico publicado en 1998

IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system.

artículo científico publicado en 2001

Identification and characterization of AFG3L2, a novel paraplegin-related gene

artículo científico publicado en 1999

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

artículo científico publicado en 1998

Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region

artículo científico publicado en 1997

Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22

artículo científico publicado en 1999

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

artículo científico publicado en 2000

Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region

scientific journal article

Identification of novel antigens with induced immune response in monoclonal gammopathy of undetermined significance

artículo científico publicado en 2009

Identification of the gene for oral-facial-digital type I syndrome

artículo científico publicado en 2001

Influence of zinc ions on protein secretion in a heavy metal tolerant strain of the ericoid mycorrhizal fungus Oidiodendron maius

artículo científico publicado en 2002

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway

artículo científico publicado en 2010

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

artículo científico publicado en 1999

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

artículo científico publicado en 2001

MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives

artículo científico publicado en 2000

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development

artículo científico publicado en 1999

Metabolic regulation of the ultradian oscillator Hes1 by reactive oxygen species

artículo científico publicado en 2015

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases

artículo científico publicado en 2005

Molecular characterization of a patient with del(1)(q23-q25).

artículo científico publicado en 1991

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

artículo científico publicado en 2008

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

artículo científico publicado en 2012

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

artículo científico publicado en 2006

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

artículo científico publicado el 4 de octubre de 2012

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

artículo científico publicado en 2003

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

artículo científico publicado en 2015

Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development

artículo científico publicado en 2012

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain

artículo científico publicado en 1998

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

artículo científico publicado en 1997

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

artículo científico publicado en 2002

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network

artículo científico publicado en 2016

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

scientific journal article

Oral–facial–digital syndromes: Review and diagnostic guidelines

article

Primary cilia of odontoblasts: possible role in molar morphogenesis.

artículo científico publicado en 2009

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

artículo científico publicado en 2002

Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy

artículo científico publicado en 2020

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

article

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p ⬇️

artículo científico publicado el 1 de julio de 1992

Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo

artículo científico publicado en 2016

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

artículo científico publicado en 2010

Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family

artículo científico publicado en 2007

The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation

artículo científico publicado en 2021

The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

artículo científico publicado en 2013

The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

artículo científico publicado en 2017

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

artículo científico publicado en 2016

The dynamic cilium in human diseases

artículo científico publicado en 2009

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

artículo científico publicado en 2013

The molecular basis of oral-facial-digital syndrome, type 1.

artículo científico publicado en 2009

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

artículo científico publicado en 2014

The primary cilium in different tissues-lessons from patients and animal models

scientific article published on 03 October 2010

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

article

Update on oral-facial-digital syndromes (OFDS)

artículo científico publicado en 2016

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

artículo científico publicado en 1995

X-inactivation and human disease: X-linked dominant male-lethal disorders

artículo científico publicado en 2006

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

artículo científico publicado en 2003

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

artículo científico publicado en 1997

miR-181a/b downregulation exerts a protective action on mitochondrial disease models

artículo científico publicado en 2019

Lista de obras de Brunella Franco

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters with Orofaciodigital Syndrome Type I

C5orf42 is the major gene responsible for OFD syndrome type VI.

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Cerebral dysgenesis does not exclude OFD I syndrome

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.

CiliaCarta: An integrated and validated compendium of ciliary genes

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

Construction of a YAC Contig Covering Human Chromosome 6p22

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

Correction: the buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes

IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system.

Identification and characterization of AFG3L2, a novel paraplegin-related gene

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region

Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region

Identification of novel antigens with induced immune response in monoclonal gammopathy of undetermined significance

Identification of the gene for oral-facial-digital type I syndrome

Influence of zinc ions on protein secretion in a heavy metal tolerant strain of the ericoid mycorrhizal fungus Oidiodendron maius

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development

Metabolic regulation of the ultradian oscillator Hes1 by reactive oxygen species

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases

Molecular characterization of a patient with del(1)(q23-q25).

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

Oral–facial–digital syndromes: Review and diagnostic guidelines

Primary cilia of odontoblasts: possible role in molar morphogenesis.

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p ⬇️

Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family

The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation

The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

The dynamic cilium in human diseases

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

The molecular basis of oral-facial-digital syndrome, type 1.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

The primary cilium in different tissues-lessons from patients and animal models

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

Update on oral-facial-digital syndromes (OFDS)

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.