José L. Badano

发表

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Bethan E. Hoskins, J. Lupski, P. Scambler, 2001, Science.

The ciliopathies: an emerging class of human genetic disorders.

Nicholas Katsanis, N. Katsanis, J. Badano, 2006, Annual review of genomics and human genetics.

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

F. Lecumberry, M. Fariello, Paola Lepanto, 2018, Scientific Reports.

Human genetics and disease: Beyond Mendel: an evolving view of human genetic disease transmission

N. Katsanis, J. Badano, José L. Badano, 2002, Nature Reviews Genetics.

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

Colin A. Johnson, K. Gull, A. Copp, 2007, Human molecular genetics.

Keeping the Balance Between Proliferation and Differentiation: The Primary Cilium

J. Badano, F. Irigoín, José L. Badano, 2011, Current genomics.

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

A. Sidow, J. Binkley, N. Katsanis, 2010, Proceedings of the National Academy of Sciences.

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

N. Katsanis, J. Badano, Victoria Prieto-Echagüe, 2017, Scientific Reports.

Basal body proteins regulate Notch signaling through endosomal trafficking

J. Badano, C. C. Leitch, Victoria Prieto-Echagüe, 2014, Journal of Cell Science.

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

R. Lewis, N. Katsanis, J. Badano, 2008, Nature Genetics.

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

Bethan E. Hoskins, Nicholas Katsanis, J. Lupski, 2004, Nature Genetics.

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

J. Badano, Magdalena Cárdenas-Rodríguez, José L. Badano, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

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

S. R. Wicks, R. Plasterk, N. Katsanis, 2004, Genes & development.

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.

J. Lupski, N. Katsanis, J. Badano, 2001, Clinical chemistry.

Pervasive epistasis in cell proliferation pathways modulates neurodevelopmental defects of autism-associated 16p11.2 deletion

S. Girirajan, J. Badano, Qingyu Wang, 2017, bioRxiv.

Studying Human Genetic Variation in Zebrafish

Jose L. Badano, J. Badano, Paola Lepanto, 2019, Cellular and Animal Models in Human Genomics Research.

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

Bethan E. Hoskins, N. Katsanis, J. Badano, 2004, Nature Genetics.

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

S. Fisher, N. Katsanis, J. Badano, 2007, Nature Genetics.

The centrosome in human genetic disease

Tanya M. Teslovich, Jose L. Badano, Nicholas Katsanis, 2005, Nature Reviews Genetics.

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

N. Katsanis, J. Badano, C. Gascue, 2011, Pediatric Nephrology.

Dissection of epistasis in oligogenic Bardet–Biedl syndrome

S. Fisher, R. Lewis, H. Dietz, 2006, Nature.

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

J. Badano, M. Vendelbo, Victoria Prieto-Echagüe, 2019, Scientific Reports.

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

Tanya M. Teslovich, Stephen J. Ansley, Bethan E. Hoskins, 2003, Nature.

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

N. Lago, S. Girirajan, J. Badano, 2021, bioRxiv.

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

Keith A. Boroevich, R. Lewis, N. Katsanis, 2004, Nature Genetics.

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

Bethan E. Hoskins, J. Lupski, P. Scambler, 2003, American journal of human genetics.

Generation and characterization of Ccdc 28 b mutant mice 2 links the Bardet-Biedl associated gene with social behavioral 3 phenotypes 4

N. Lago, J. Badano, Victoria Prieto-Echagüe, 2022 .

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

J. Badano, P. Beales, M. Graña, 2012, Human Genetics.

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

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Bethan E. Hoskins, D. Cutler, R. Lewis, 2003, Human molecular genetics.

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

S. Girirajan, J. Badano, Qingyu Wang, 2018, Nature Communications.

Regulation of neuroblast competence in Drosophila

Tanya M. Teslovich, R. Lewis, N. Katsanis, 2022 .

Bardet–Biedl syndrome: Is it only cilia dysfunction?

J. Badano, F. Irigoín, Magdalena Cárdenas-Rodríguez, 2015, FEBS letters.

A manually curated functional annotation of the human X chromosome

K. S. Deshpande, B. M. Vrushabendra, B. P. Rashmi, 2005, Nature Genetics.

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

J. Lupski, R. Lewis, N. Katsanis, 2003, American journal of human genetics.

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

N. Katsanis, J. Badano, Hugo Naya, 2012, Journal of Cell Science.

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

Seneca L. Bessling, A. McCallion, A. Munnich, 2009, Proceedings of the National Academy of Sciences.

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

R. Lewis, N. Katsanis, C. C. Leitch, 2008, Nature Genetics.

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

L. Shaffer, J. Badano, Yuan-qing Wu, 2000, American journal of human genetics.

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

J. Badano, M. Graña, F. Irigoín, 2016, PloS one.

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

J. Badano, D. Valverde, J. Rotllant, 2019, Scientific Reports.

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

J. Badano, Paola Lepanto, F. R. Zolessi, 2016, Neurogenesis.

defects and compromised intraflagellar transport BBS-7 and BBS-8 protein function results in cilia

S. R. Wicks, N. Katsanis, J. Badano, 2007 .

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

J. Badano, Paola Lepanto, G. Casanova, 2016, Neural Development.

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

J. Badano, J. Sotelo-Silveira, D. Munroe, 2014, BMC Molecular Biology.

Insights into in vivo adipocyte differentiation through cell-specific labeling in zebrafish

J. Badano, Leonel Malacrida, U. Koziol, 2021, bioRxiv.

Human genetics and disease: Beyond Mendel: an evolving view of human genetic disease transmission

N. Katsanis, José L. Badano, 2002, Nature Reviews Genetics.

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

Magdalena Cárdenas-Rodríguez, José L. Badano, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

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

N. Katsanis, J. Badano, C. C. Leitch, 2005, Journal of Cell Science.

An effective COVID-19 response in South America: the Uruguayan Conundrum

F. Paganini, J. Badano, L. Barbeito, 2020, medRxiv.

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

N. Katsanis, J. Badano, P. Beales, 2013, Human molecular genetics.

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

J. Badano, P. Beales, M. Graña, 2012, Human Genetics.

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

Paola Lepanto, F. R. Zolessi, José L. Badano, 2016, Neurogenesis.

Impact of Bariatric Surgery on metabolic health in a Uruguayan cohort and the emerging predictive role of FSTL1

Victoria Prieto-Echagüe, L. Spangenberg, C. Escande, 2024, Scientific reports.