(Q37411003)

English

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

scientific article published on October 2009

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scholarly article

1 reference

Europe PubMed Central

20 August 2017

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis (English)

1 reference

Europe PubMed Central

20 August 2017

holoprosencephaly

1 reference

based on heuristic

inferred from title

Maximilian Muenke

17

object named as

Maximilian Muenke

1 reference

Europe PubMed Central

20 August 2017

Felicitas Lacbawan

7

object named as

Felicitas Lacbawan

1 reference

Europe PubMed Central

20 August 2017

author name string

Erich Roessler

1

1 reference

Europe PubMed Central

20 August 2017

Kenia B El-Jaick

2

1 reference

Europe PubMed Central

20 August 2017

Christèle Dubourg

3

1 reference

Europe PubMed Central

20 August 2017

Jorge I Vélez

4

1 reference

Europe PubMed Central

20 August 2017

Benjamin D Solomon

5

1 reference

Europe PubMed Central

20 August 2017

Daniel E Pineda-Alvarez

6

1 reference

Europe PubMed Central

20 August 2017

Nan Zhou

8

1 reference

Europe PubMed Central

20 August 2017

Maia Ouspenskaia

9

1 reference

Europe PubMed Central

20 August 2017

Aimée Paulussen

10

1 reference

Europe PubMed Central

20 August 2017

Hubert J Smeets

11

1 reference

Europe PubMed Central

20 August 2017

Ute Hehr

12

1 reference

Europe PubMed Central

20 August 2017

Claude Bendavid

13

1 reference

Europe PubMed Central

20 August 2017

Sherri Bale

14

1 reference

Europe PubMed Central

20 August 2017

Sylvie Odent

15

1 reference

Europe PubMed Central

20 August 2017

Véronique David

16

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Europe PubMed Central

20 August 2017

publication date

1 October 2009

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Europe PubMed Central

20 August 2017

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Europe PubMed Central

20 August 2017

30

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20 August 2017

10

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20 August 2017

E921-35

1 reference

Europe PubMed Central

20 August 2017

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

The Hedgehog protein family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Hedgehog signalling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Holoprosencephaly: new models, new insights

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

The morphogen signaling network in forebrain development and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Single median maxillary central incisor: new data and mutation review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Holoprosencephaly: clinical, anatomic, and molecular dimensions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Functional analysis of mutations in TGIF associated with holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Sonic Hedgehog, a key development gene, experienced intensified molecular evolution in primates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

How a Hedgehog might see holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Midline and laterality defects: left and right meet in the middle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Identification of a palmitic acid-modified form of human Sonic hedgehog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Crystal structure of a Hedgehog autoprocessing domain: homology between Hedgehog and self-splicing proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Cholesterol modification of hedgehog signaling proteins in animal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

6 September 2017

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

28 September 2017

A highly conserved amino-terminal region of sonic hedgehog is required for the formation of its freely diffusible multimeric form.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

26 June 2018

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

26 June 2018

Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

Holoprosencephaly-like phenotype: clinical and genetic perspectives.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

The product of hedgehog autoproteolytic cleavage active in local and long-range signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2772877

2 September 2018

Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog

1 reference

https://pubmed.ncbi.nlm.nih.gov/19603532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor

1 reference

https://pubmed.ncbi.nlm.nih.gov/19603532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single median maxillary central incisor, hypophyseal tumor, and SHH mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19603532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/19603532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

1 reference

https://pubmed.ncbi.nlm.nih.gov/19603532

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21090

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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