(Q36756758)

16 August 2017

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network (English)

1 reference

16 August 2017

Josseline Kaplan

16

0 references

Heather Etchevers

object named as

Heather C Etchevers

18

0 references

Didier Lacombe

object named as

Didier Lacombe

12

0 references

Hélène Dollfus

15

object named as

Helene Dollfus

1 reference

16 August 2017

14

Jean-Louis Dufier

1 reference

16 August 2017

Nicolas Chassaing

1

1 reference

16 August 2017

Erica E Davis

2

1 reference

16 August 2017

Kelly L McKnight

3

1 reference

16 August 2017

Adrienne R Niederriter

4

1 reference

16 August 2017

Alexandre Causse

5

1 reference

16 August 2017

Véronique David

6

1 reference

16 August 2017

Annaïck Desmaison

7

1 reference

16 August 2017

Sophie Lamarre

8

1 reference

16 August 2017

Catherine Vincent-Delorme

9

1 reference

16 August 2017

Laurent Pasquier

10

1 reference

16 August 2017

Christine Coubes

11

1 reference

16 August 2017

Massimiliano Rossi

13

1 reference

16 August 2017

Nicholas Katsanis

17

1 reference

16 August 2017

Stanislas Faguer

19

1 reference

16 August 2017

Patrick Calvas

20

1 reference

16 August 2017

18 February 2016

1 reference

16 August 2017

1 reference

16 August 2017

26

1 reference

16 August 2017

4

1 reference

16 August 2017

474-485

1 reference

describes a project that uses

16 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4817771/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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29 September 2017

1 reference

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Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma

29 September 2017

1 reference

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Whole exome sequence analysis of Peters anomaly

29 September 2017

1 reference

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Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis

29 September 2017

1 reference

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JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles

29 September 2017

1 reference

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Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

29 September 2017

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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

29 September 2017

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29 September 2017

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ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

29 September 2017

1 reference

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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

29 September 2017

1 reference

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An ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in Colobomas.

29 September 2017

1 reference

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Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia

29 September 2017

1 reference

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Eye development genes and known syndromes

29 September 2017

1 reference

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Genetics of anterior segment dysgenesis disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

29 September 2017

1 reference

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Integrating common and rare genetic variation in diverse human populations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Expanded progenitor populations, vitreo-retinal abnormalities, and Müller glial reactivity in the zebrafish leprechaun/patched2 retina

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Zebrafish blowout provides genetic evidence for Patched1-mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Genetic analysis of the two zebrafish patched homologues identifies novel roles for the hedgehog signaling pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Quantitative assessment of the knockdown efficiency of morpholino antisense oligonucleotides in zebrafish embryos using a luciferase assay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Anophthalmia and microphthalmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Expression analysis of murine genes using in situ hybridization with radioactive and nonradioactively labeled RNA probes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

The zebrafish mutants dre, uki, and lep encode negative regulators of the hedgehog signaling pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Heterozygous mutations of OTX2 cause severe ocular malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Growth and pattern of the mammalian neural tube are governed by partially overlapping feedback activities of the hedgehog antagonists patched 1 and Hhip1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Specification of the retinal fate of mouse embryonic stem cells by ectopic expression of Rx/rax, a homeobox gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Mutations in SOX2 cause anophthalmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

dbSNP: the NCBI database of genetic variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

The sonic hedgehog-patched-gli pathway in human development and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by Hedgehog

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Somite differentiation. Sonic signals somites

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Ligand-independent activation of the Hedgehog pathway displays non-cell autonomous proliferation during eye development in Drosophila

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Several human PATCHED1 mutations block protein maturation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Sonic hedgehog is not required for the induction of medial floor plate cells in the zebrafish.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

The Patched 1 tumor-suppressor gene protects the mouse lens from spontaneous and radiation-induced cataract.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

An efficient transfection method for mouse embryonic stem cells.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

A homologue of the Drosophila kinesin-like protein Costal2 regulates Hedgehog signal transduction in the vertebrate embryo

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Hedgehog signalling controls eye degeneration in blind cavefish

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Multiple muscle cell identities induced by distinct levels and timing of hedgehog activity in the zebrafish embryo

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Conserved expression control and shared activity between cognate T-box genes Tbx2 and Tbx3 in connection with Sonic hedgehog signaling during Xenopus eye development.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Zebrafish smoothened functions in ventral neural tube specification and axon tract formation

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Brain, eye, and face defects as a result of ectopic localization of Sonic hedgehog protein in the developing rostral neural tube

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Zebrafish mutations affecting retinotectal axon pathfinding.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Midline signalling is required for Pax gene regulation and patterning of the eyes.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817771

Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26893459

12 December 2020

inferred from PubMed ID database lookup

Simple microphthalmos

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26893459

12 December 2020

inferred from PubMed ID database lookup

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26893459

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1101/GR.196048.115

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

26893459

1 reference