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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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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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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.351-360

2011

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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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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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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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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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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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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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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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Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity

Scientific reports, 2022-08, Vol.12 (1), p.13815-13815, Article 13815

2022

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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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Erratum. Integrated Physiology of the Exocrine and Endocrine Compartments in Pancreatic Diseases: Workshop Proceedings. Diabetes 2023;72:433-448

Diabetes (New York, N.Y.), 2023-08, Vol.72 (8), p.1173-1173

2023

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

Scientific reports, 2017-08, Vol.7 (1), p.9765-14, Article 9765

2017

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Primary cilia in pancreatic development and disease

Birth defects research. Part C. Embryo today, 2014-06, Vol.102 (2), p.139-158

2014

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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

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

Functional modules, mutational load and human genetic disease

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

RFX transcription factors are essential for hearing in mice

Basal body proteins regulate Notch signaling through endosomal trafficking

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

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

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

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

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

Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity

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

Integrated Physiology of the Exocrine and Endocrine Compartments in Pancreatic Diseases: Workshop Proceedings

Erratum. Integrated Physiology of the Exocrine and Endocrine Compartments in Pancreatic Diseases: Workshop Proceedings. Diabetes 2023;72:433-448

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

Primary cilia in pancreatic development and disease

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