Lista de obras - Jose Badano - Dominio Público Uruguay

A manually curated functional annotation of the human X chromosome.

artículo científico publicado en 2005

A novel form of Deleted in breast cancer 1 (DBC1) lacking the N-terminal domain does not bind SIRT1 and is dynamically regulated in vivo

artículo científico publicado en 2019

Author Correction: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

artículo científico publicado en 2020

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

artículo científico publicado en 2006

BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.

artículo científico

Bardet-Biedl syndrome: Is it only cilia dysfunction?

artículo científico

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

artículo científico publicado en 2003

Basal body proteins regulate Notch signaling through endosomal trafficking

artículo científico publicado en 2014

Beyond Mendel: an evolving view of human genetic disease transmission

artículo científico publicado en 2002

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome

artículo científico publicado en 2013

Characterization of primary cilia during the differentiation of retinal ganglion cells in the zebrafish

artículo científico publicado en 2016

Ciliary Entry of the Hedgehog Transcriptional Activator Gli2 Is Mediated by the Nuclear Import Machinery but Differs from Nuclear Transport in Being Imp-α/β1-Independent

artículo científico publicado en 2016

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

artículo científico publicado en 2009

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

artículo científico publicado en 2010

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation

artículo científico publicado en 2012

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

artículo científico publicado en 2007

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

artículo científico publicado en 2006

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

article

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

artículo científico publicado en 2010

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

artículo científico publicado en 2019

Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

scientific article published on 02 June 2022

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

artículo científico publicado en 2003

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

artículo científico publicado en 2000

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

artículo científico publicado en 2008

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

artículo científico publicado en 2003

Intracellular Transport Characterization of the Transcription Factor Gli2 by Fluorescence Correlation Spectroscopy Approaches

Keeping the balance between proliferation and differentiation: the primary cilium

artículo científico publicado en 2011

Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.

artículo científico publicado en 2018

Life without centrioles: cilia in the spotlight

artículo científico publicado en 2006

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

scientific journal article

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

artículo científico publicado en 2004

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

artículo científico publicado en 2005

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

artículo científico publicado en 2004

Neuron's little helper: The role of primary cilia in neurogenesis

artículo científico publicado en 2016

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.

artículo científico publicado en 2018

Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules

artículo científico publicado en 2014

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

artículo científico publicado en 2004

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex

artículo científico publicado en 2013

The Ciliopathies: An Emerging Class of Human Genetic Disorders

artículo científico publicado en 2006

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

artículo científico publicado en 2007

The centrosome in human genetic disease

artículo científico publicado en 2005

Lista de obras de Jose Badano

A manually curated functional annotation of the human X chromosome.

A novel form of Deleted in breast cancer 1 (DBC1) lacking the N-terminal domain does not bind SIRT1 and is dynamically regulated in vivo

Author Correction: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.

Bardet-Biedl syndrome: Is it only cilia dysfunction?

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Basal body proteins regulate Notch signaling through endosomal trafficking

Beyond Mendel: an evolving view of human genetic disease transmission

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome

Characterization of primary cilia during the differentiation of retinal ganglion cells in the zebrafish

Ciliary Entry of the Hedgehog Transcriptional Activator Gli2 Is Mediated by the Nuclear Import Machinery but Differs from Nuclear Transport in Being Imp-α/β1-Independent

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Intracellular Transport Characterization of the Transcription Factor Gli2 by Fluorescence Correlation Spectroscopy Approaches

Keeping the balance between proliferation and differentiation: the primary cilium

Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.

Life without centrioles: cilia in the spotlight

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Neuron's little helper: The role of primary cilia in neurogenesis

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.

Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex

The Ciliopathies: An Emerging Class of Human Genetic Disorders

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

The centrosome in human genetic disease