SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity (Q48328044)

10 February 2018

title

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity (English)

1 reference

10.1007/S00439-003-0950-4

Crossref

DOI

https://api.crossref.org/works/10.1007/S00439-003-0950-4

26 December 2023

1 reference

1 reference

10.1007/S00439-003-0950-4

https://api.crossref.org/works/10.1007/S00439-003-0950-4

26 December 2023

author name string

Can Schell-Apacik

1

1 reference

10 February 2018

Mariel Rivero

2

1 reference

10 February 2018

Erich Roessler

4

1 reference

10 February 2018

Maximilian Muenke

5

1 reference

10 February 2018

Jessica L. Knepper

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12709790

26 December 2023

Jeffrey E. Ming

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12709790

26 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12709790

26 December 2023

publication date

23 April 2003

1 reference

10 February 2018

published in

Human Genetics

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10 February 2018

volume

113

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10 February 2018

issue

2

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10 February 2018

page(s)

170-177

1 reference

10 February 2018

https://scigraph.springernature.com/pub.10.1007/s00439-003-0950-4

exact match

0 references

cites work

The Gsh2 homeodomain gene controls multiple aspects of telencephalic development

1 reference

12 December 2020

Longitudinal organization of the anterior neural plate and neural tube.

1 reference

12 December 2020

A series of normal stages in the development of the chick embryo

1 reference

12 December 2020

Holoprosencephaly: from Homer to Hedgehog.

1 reference

12 December 2020

A method for rapid gain-of-function studies in the mouse embryonic nervous system.

1 reference

12 December 2020

Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse node

1 reference

12 December 2020

Inductive interactions direct early regionalization of the mouse forebrain

1 reference

12 December 2020

Induction and dorsoventral patterning of the telencephalon

1 reference

12 December 2020

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

1 reference

12 December 2020

The specification of dorsal cell fates in the vertebrate central nervous system

1 reference

12 December 2020

Patterning of the chick forebrain anlage by the prechordal plate.

1 reference

12 December 2020

Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling

1 reference

12 December 2020

Ventral neural patterning by Nkx homeobox genes: Nkx6.1 controls somatic motor neuron and ventral interneuron fates

1 reference

12 December 2020

Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum

1 reference

12 December 2020

Transcriptional networks regulating neuronal identity in the developing spinal cord

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

1 reference

12 December 2020

Sonic hedgehog in the nervous system: functions, modifications and mechanisms

1 reference

12 December 2020

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

12 December 2020

Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system

1 reference

12 December 2020

Neuronal specification in the spinal cord: inductive signals and transcriptional codes

1 reference

12 December 2020

Nomenclature for the description of human sequence variations.

1 reference

12 December 2020

Induction of midbrain dopaminergic neurons by Sonic hedgehog

1 reference

12 December 2020

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

1 reference

12 December 2020

Hedgehog signaling in animal development: paradigms and principles

1 reference

12 December 2020

Two critical periods of Sonic Hedgehog signaling required for the specification of motor neuron identity

1 reference

12 December 2020

Floor plate and motor neuron induction by vhh-1, a vertebrate homolog of hedgehog expressed by the notochord

1 reference

12 December 2020

The specification of neuronal identity by graded Sonic Hedgehog signalling.

1 reference

12 December 2020

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

1 reference

12 December 2020

Induction of dopaminergic neuron phenotype in the midbrain by Sonic hedgehog protein

1 reference

12 December 2020

Specification of neuronal fates in the ventral neural tube

1 reference

12 December 2020

Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly

1 reference

12 December 2020

Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity

1 reference

12 December 2020

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

A functionally conserved homolog of the Drosophila segment polarity gene hh is expressed in tissues with polarizing activity in zebrafish embryos

1 reference

12 December 2020

Holoprosencephaly: birth data, benetic and demographic analyses of 30 families

1 reference

12 December 2020

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

1 reference

12 December 2020

Requirement of 19K form of Sonic hedgehog for induction of distinct ventral cell types in CNS explants.

1 reference

12 December 2020

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

1 reference

12 December 2020

Cooperation of BMP7 and SHH in the induction of forebrain ventral midline cells by prechordal mesoderm.

1 reference

12 December 2020

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

1 reference

12 December 2020

Sonic hedgehog mediates the polarizing activity of the ZPA

1 reference

12 December 2020

Axis formation and patterning in zebrafish

1 reference

12 December 2020

Patterning of the embryonic forebrain

1 reference

12 December 2020

Mutations affecting the development of the embryonic zebrafish brain

1 reference

12 December 2020

Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases

1 reference

12 December 2020

A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog

1 reference

12 December 2020

Overexpression of ptc1 inhibits induction of Shh target genes and prevents normal patterning in the neural tube

1 reference

12 December 2020

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

1 reference

12 December 2020

Sonic hedgehog induces the differentiation of ventral forebrain neurons: A common signal for ventral patterning within the neural tube

1 reference

12 December 2020

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

12 December 2020

A homeodomain protein code specifies progenitor cell identity and neuronal fate in the ventral neural tube

1 reference

12 December 2020

Regionalization within the mammalian telencephalon is mediated by changes in responsiveness to Sonic Hedgehog

1 reference

12 December 2020

10.1007/S00439-003-0950-4

Identifiers

DOI

0 references

1 reference

10 February 2018