(Q48374383)

http://europepmc.org/abstract/PMC/5797970

19 February 2018

title

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome (English)

1 reference

http://europepmc.org/abstract/PMC/5797970

19 February 2018

main subject

WD repeat domain 11

1 reference

GLI-Kruppel family member GLI3

1 reference

Empty spiracles homeobox 1

1 reference

WD repeat domain 11

1 reference

WD repeat domain 11

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Daniel Osborn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Francesc Miralles

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

Juan Pedro Martinez-Barbera

31 May 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Paris Ataliotis

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Soo-Hyun Kim

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Ji-Young Lee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Masatake Araki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kimi Araki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Timothy Mohun

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Johanna Känsäkoski

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Nina Brandstack

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Hyun-Taek Kim

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Cheol-Hee Kim

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Nigel A Brown

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Hyung-Goo Kim

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Taneli Raivio

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Lawrence C Layman

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

20 December 2017

1 reference

http://europepmc.org/abstract/PMC/5797970

19 February 2018

published in

EMBO Reports

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

269-289

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

31 May 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5797970/fullTextXML

inferred from PubMed Central ID database lookup

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Cilia-dependent GLI processing in neural crest cells is required for tongue development

22 May 2018

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Transcription factor Emx2 controls stereociliary bundle orientation of sensory hair cells.

22 May 2018

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Motile and non-motile cilia in human pathology: from function to phenotypes

22 May 2018

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Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

22 May 2018

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Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future

22 May 2018

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22 May 2018

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Homeodomain Proteins SIX3 and SIX6 Regulate Gonadotrope-specific Genes During Pituitary Development.

22 May 2018

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Primary cilia enhance kisspeptin receptor signaling on gonadotropin-releasing hormone neurons

22 May 2018

1 reference

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Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice

22 May 2018

1 reference

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Leptin-promoted cilia assembly is critical for normal energy balance

22 May 2018

1 reference

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22 May 2018

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Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

22 May 2018

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Gli protein activity is controlled by multisite phosphorylation in vertebrate Hedgehog signaling.

22 May 2018

1 reference

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Roles for primary cilia in gonadotrophin-releasing hormone neurones in the mouse

22 May 2018

1 reference

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Control of muscle fibre-type diversity during embryonic development: the zebrafish paradigm

22 May 2018

1 reference

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Msx1 homeodomain protein represses the αGSU and GnRH receptor genes during gonadotrope development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population

22 May 2018

1 reference

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Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Depletion of primary cilia in articular chondrocytes results in reduced Gli3 repressor to activator ratio, increased Hedgehog signaling, and symptoms of early osteoarthritis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

The primary cilium: a signalling centre during vertebrate development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

The primary cilium as a Hedgehog signal transduction machine

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

22 May 2018

1 reference

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Basal body stability and ciliogenesis requires the conserved component Poc1

22 May 2018

1 reference

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Primary cilia can both mediate and suppress Hedgehog pathway-dependent tumorigenesis

22 May 2018

1 reference

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Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1

22 May 2018

1 reference

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22 May 2018

1 reference

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The primary cilium as a cellular signaling center: lessons from disease

22 May 2018

1 reference

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Olfactory cilia: linking sensory cilia function and human disease

22 May 2018

1 reference

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C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

22 May 2018

1 reference

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Hedgehog: functions and mechanisms

22 May 2018

1 reference

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Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

When cilia go bad: cilia defects and ciliopathies

22 May 2018

1 reference

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High-resolution episcopic microscopy: a rapid technique for high detailed 3D analysis of gene activity in the context of tissue architecture and morphology.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Purmorphamine activates the Hedgehog pathway by targeting Smoothened.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Hedgehog signaling and congenital malformations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

The use of lead citrate at high pH as an electron-opaque stain in electron microscopy

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Small molecule modulation of Smoothened activity

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Gli3 is required for Emx gene expression during dorsal telencephalon development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Budding yeast centromere composition and assembly as revealed by in vivo cross-linking

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Defects of urogenital development in mice lacking Emx2.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

An alternative gonadotropin-releasing hormone (GnRH) RNA splicing product found in cultured GnRH neurons and mouse hypothalamus.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Transcriptional silencing in yeast is associated with reduced nucleosome acetylation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Congenital heart disease associated with sporadic Kallmann syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

A Rapid and Simple Method for Electron Microscopy of Paraffin-Embedded Tissue

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Migratory arrest of gonadotropin-releasing hormone neurons in transgenic mice

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Empty spiracles is required for the development of olfactory projection neuron circuitry in Drosophila

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Hedgehog signaling is required for cranial neural crest morphogenesis and chondrogenesis at the midline in the zebrafish skull.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Disruption of IFT results in both exocrine and endocrine abnormalities in the pancreas of Tg737(orpk) mutant mice

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Hedgehog signalling is required for maintenance of myf5 and myoD expression and timely terminal differentiation in zebrafish adaxial myogenesis.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Hedgehog signaling is required for pituitary gland development.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797970

Development of midline cell types and commissural axon tracts requires Fgfr1 in the cerebrum

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29263200

12 December 2020

inferred from PubMed ID database lookup

Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29263200

12 December 2020

inferred from PubMed ID database lookup

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29263200

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.15252/EMBR.201744632

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29263200%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

PubMed publication ID

29263200

1 reference