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BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF

PloS one, 2014-05, Vol.9 (5), p.e98687-e98687

2014

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RFX transcription factors are essential for hearing in mice

Nature communications, 2015-10, Vol.6 (1), p.8549-8549, Article 8549

2015

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Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

The Journal of clinical investigation, 2014-05, Vol.124 (5), p.2059-2070

2014

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The emerging face of primary cilia

Genesis (New York, N.Y. : 2000), 2011-04, Vol.49 (4), p.231-246

2011

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

Nature genetics, 2007-11, Vol.39 (11), p.1350-1360

2007

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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

The Journal of clinical investigation, 2009-03, Vol.119 (3), p.428-437

2009

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

Proceedings of the National Academy of Sciences - PNAS, 2010-06, Vol.107 (23), p.10602-10607

2010

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Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio

G3 : genes - genomes - genetics, 2018-07, Vol.8 (7), p.2215-2223

2018

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Disruption of ldlr causes increased LDL-c and vascular lipid accumulation in a zebrafish model of hypercholesterolemia[S]

Journal of lipid research, 2014-11, Vol.55 (11), p.2242-2253

2014

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FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Nature communications, 2016-04, Vol.7 (1), p.10953-10953, Article 10953

2016

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Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

American journal of human genetics, 2007-01, Vol.80 (1), p.1-11

2007

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Exocrine pancreas proteases regulate β-cell proliferation in zebrafish ciliopathy models and in murine systems

Biology open, 2021-06, Vol.10 (6)

2021

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Alterations of rx1 and pax6 expression levels at neural plate stages differentially affect the production of retinal cell types and maintenance of retinal stem cell qualities

Developmental biology, 2007-06, Vol.306 (1), p.222-240

2007

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Functional modules, mutational load and human genetic disease

Trends in genetics, 2010-04, Vol.26 (4), p.168-176

2010

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Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

Nature cell biology, 2011-04, Vol.13 (4), p.351

2011

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

Proceedings of the National Academy of Sciences - PNAS, 2009-08, Vol.106 (33), p.13921-13926

2009

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An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes

PLoS genetics, 2008-03, Vol.4 (3), p.e1000044-e1000044

2008

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Basal body proteins regulate Notch signaling through endosomal trafficking

Journal of cell science, 2014-06, Vol.127 (Pt 11), p.2407-2419

2014

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Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes

Human molecular genetics, 2016-01, Vol.25 (1), p.57-68

2016

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

Nature genetics, 2008-04, Vol.40 (4), p.443-448

2008

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237-LB: Identification of Small Molecules That Increase Beta-Cell Mass in Hyperinsulinemic Zebrafish Alström Syndrome Model

Diabetes (New York, N.Y.), 2019-06, Vol.68 (Supplement_1)

2019

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Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes

BMC genomics, 2016-05, Vol.17 (1), p.318-318, Article 318

2016

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TM6SF2 rs58542926 impacts lipid processing in liver and small intestine

Hepatology (Baltimore, Md.), 2017-05, Vol.65 (5), p.1526-1542

2017

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Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes

Human molecular genetics, 2019-07, Vol.28 (13), p.2212-2223

2019

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Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

American journal of human genetics, 2010, Vol.86 (1), p.45-53

2010

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BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF

RFX transcription factors are essential for hearing in mice

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

The emerging face of primary cilia

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

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

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

Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio

Disruption of ldlr causes increased LDL-c and vascular lipid accumulation in a zebrafish model of hypercholesterolemia[S]

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

Exocrine pancreas proteases regulate β-cell proliferation in zebrafish ciliopathy models and in murine systems

Alterations of rx1 and pax6 expression levels at neural plate stages differentially affect the production of retinal cell types and maintenance of retinal stem cell qualities

Functional modules, mutational load and human genetic disease

Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

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

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes

Basal body proteins regulate Notch signaling through endosomal trafficking

Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes

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

237-LB: Identification of Small Molecules That Increase Beta-Cell Mass in Hyperinsulinemic Zebrafish Alström Syndrome Model

Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes

TM6SF2 rs58542926 impacts lipid processing in liver and small intestine

Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

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