Bardet-Biedl syndrome: Is it only cilia dysfunction? (Q38558495)

4 September 2017

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title

Bardet-Biedl syndrome: Is it only cilia dysfunction? (English)

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4 September 2017

main subject

Bardet-Biedl syndrome

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Jose L Badano

4

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author name string

Rossina Novas

series ordinal

1

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4 September 2017

Magdalena Cardenas-Rodriguez

series ordinal

2

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4 September 2017

Florencia Irigoín

series ordinal

3

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4 September 2017

language of work or name

English

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publication date

28 July 2015

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4 September 2017

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4 September 2017

volume

589

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4 September 2017

issue

22

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4 September 2017

page(s)

3479-3491

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4 September 2017

cites work

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Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

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

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

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Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes

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

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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

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

21 January 2018

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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

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Evidence of Oligogenic Inheritance in Nephronophthisis

21 January 2018

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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

21 January 2018

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Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

21 January 2018

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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

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21 January 2018

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

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Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

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

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

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

21 January 2018

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Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

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

21 January 2018

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

21 January 2018

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The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

21 January 2018

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Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

21 January 2018

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Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods

21 January 2018

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A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

21 January 2018

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Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

21 January 2018

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The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

21 January 2018

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The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome

21 January 2018

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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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21 January 2018

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Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

21 January 2018

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SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Functional coordination of intraflagellar transport motors.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

The BBSome controls IFT assembly and turnaround in cilia

21 January 2018

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Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia

21 January 2018

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The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

21 January 2018

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Dissecting intraflagellar transport, one molecule at a time

21 January 2018

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IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control

21 January 2018

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Intraflagellar transport (IFT) protein IFT25 is a phosphoprotein component of IFT complex B and physically interacts with IFT27 in Chlamydomonas

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Basal body proteins regulate Notch signaling through endosomal trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Regulation of Notch signalling by endocytosis and endosomal sorting

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Structural basis for membrane targeting of the BBSome by ARL6

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Functional genomic screen for modulators of ciliogenesis and cilium length

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

The primary cilium: guardian of organ development and homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

The vertebrate primary cilium in development, homeostasis, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Ciliary dysfunction in developmental abnormalities and diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

A new Cre driver mouse line, Tcf21/Pod1-Cre, targets metanephric mesenchyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Polycystins and primary cilia: primers for cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Polycystin-2 takes different routes to the somatic and ciliary plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Paramecium BBS genes are key to presence of channels in Cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Hedgehog signaling from the primary cilium to the nucleus: an emerging picture of ciliary localization, trafficking and transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Bardet-biedl syndrome and brain abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

A role for primary cilia in glutamatergic synaptic integration of adult-born neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Neuronal primary cilia: an underappreciated signaling and sensory organelle in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Influences of primary cilia on cortical morphogenesis and neuronal subtype maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Metabolic regulation and energy homeostasis through the primary Cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Leptin-promoted cilia assembly is critical for normal energy balance

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Leptin Elongates Hypothalamic Neuronal Cilia via Transcriptional Regulation and Actin Destabilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Identification of G Protein-Coupled Receptors (GPCRs) in Primary Cilia and Their Possible Involvement in Body Weight Control

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

The Role of Primary Cilia in Mesenchymal Stem Cell Differentiation: A Pivotal Switch in Guiding Lineage Commitment

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

BBS4 directly affects proliferation and differentiation of adipocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Kif3a deficiency reverses the skeletal abnormalities in Pkd1 deficient mice by restoring the balance between osteogenesis and adipogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2015.07.031

10.1016/J.FEBSLET.2015.07.031

21 January 2018

Identifiers

DOI

1 reference

release_z7yuo6fwknetvowaystufryvwi

4 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/z7yuo6fwknetvowaystufryvwi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference