(Q42710731)

5 November 2017

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression (English)

1 reference

5 November 2017

9

1 reference

5 November 2017

13

Stefan Mundlos

1 reference

5 November 2017

Michael Niedermaier

1

1 reference

5 November 2017

Georg C Schwabe

2

1 reference

5 November 2017

Stephan Fees

3

1 reference

5 November 2017

Anne Helmrich

4

1 reference

5 November 2017

Norbert Brieske

5

1 reference

5 November 2017

Petra Seemann

6

1 reference

5 November 2017

Jochen Hecht

7

1 reference

5 November 2017

Volkhard Seitz

8

1 reference

5 November 2017

Gundula Leschik

10

1 reference

5 November 2017

Evelin Schrock

11

1 reference

5 November 2017

Paul B Selby

12

1 reference

5 November 2017

language of work or name

English

0 references

publication date

1 April 2005

1 reference

Journal of Clinical Investigation

5 November 2017

1 reference

5 November 2017

115

1 reference

5 November 2017

900-909

1 reference

5 November 2017

4

1 reference

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

5 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Long-range control of gene expression: emerging mechanisms and disruption in disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Genetics of congenital hand anomalies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Isolation of the chicken Lmbr1 coding sequence and characterization of its role during chick limb development

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Genetic disorders of the skeleton: a developmental approach

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Deciphering skeletal patterning: clues from the limb

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Developmental roles and clinical significance of hedgehog signaling

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

BMP and Ihh/PTHrP signaling interact to coordinate chondrocyte proliferation and differentiation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

The whereabouts of a morphogen: direct evidence for short- and graded long-range activity of hedgehog signaling peptides

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Comparative biological responses to human Sonic, Indian, and Desert hedgehog

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Sonic hedgehog is a survival factor for hypaxial muscles during mouse development

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

VISTA : visualizing global DNA sequence alignments of arbitrary length

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

27 May 2018

Skeletal morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

PipMaker--a web server for aligning two genomic DNA sequences

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Gli proteins encode context-dependent positive and negative functions: implications for development and disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Intronic enhancers control expression of zebrafish sonic hedgehog in floor plate and notochord.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Mechanisms of GDF-5 action during skeletal development

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Expression and function of Gdf-5 during digit skeletogenesis in the embryonic chick leg bud.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Cellular aspects of the development of diarthrodial joints and articular cartilage.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Development of the metatarsophalangeal joint of the chick embryo: morphological, ultrastructural and histochemical studies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Targeted expression of SHH affects chondrocyte differentiation, growth plate organization, and Sox9 expression.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Distinct regulators of Shh transcription in the floor plate and notochord indicate separate origins for these tissues in the mouse node.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

The chick oligozeugodactyly (ozd) mutant lacks sonic hedgehog function in the limb

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

An economic method for the fluorescent labeling of PCR fragments.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1070420

Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh)

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15841179

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Alterations in hyaluronan synthesis during developing joint cavitation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15841179

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI23675

1 reference

5 November 2017

1 reference

5 November 2017

1 reference