(Q34381719)

English

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Temtamy preaxial brachydactyly syndrome

0 references

Chondroitin sulfate synthase 1

1 reference

GOA release 2020-03-11

NBL1, DAN family BMP antagonist

1 reference

GOA release 2020-03-11

Bone morphogenetic protein 2b

1 reference

GOA release 2020-03-11

Gudrun Nürnberg

9

object named as

Gudrun Nürnberg

0 references

6

object named as

Gökhan Yigit

0 references

object named as

Khalda Amr

16

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Matthew B Lanktree

object named as

Matthew B Lanktree

13

0 references

Robert A. Hegele

15

object named as

Robert A Hegele

0 references

object named as

Mona Aglan

4

0 references

Samia A Temtamy

object named as

Samia Temtamy

3

0 references

Peter Nürnberg

18

object named as

Peter Nürnberg

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Matthias Hammerschmidt

20

object named as

Matthias Hammerschmidt

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

21

object named as

Bernd Wollnik

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Yun Li

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Kathrin Laue

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

L Damla Kotan

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Husniye Canan

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Barbara Pawlik

8

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Emma L Wakeling

10

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Oliver W Quarrell

11

1 reference

Europe PubMed Central

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1 August 2017

Ingelore Baessmann

12

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mustafa Yilmaz

14

1 reference

Europe PubMed Central

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1 August 2017

Klaus W May

17

1 reference

Europe PubMed Central

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1 August 2017

A Kemal Topaloglu

19

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

0 references

publication date

1 December 2010

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

87

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

757-767

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Chondroitin sulfate expression is required for cardiac atrioventricular canal formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

The brachydactylies: a molecular disease family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Proteomic and functional analysis of NCS-1 binding proteins reveals novel signaling pathways required for inner ear development in zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

A late role for bmp2b in the morphogenesis of semicircular canal ducts in the zebrafish inner ear

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Signaling cross-talk between TGF-beta/BMP and other pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Bmp4 is essential for the formation of the vestibular apparatus that detects angular head movements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Role of Bone morphogenetic protein 4 in zebrafish semicircular canal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Role of hindbrain in inner ear morphogenesis: analysis of Noggin knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

p53 activation by knockdown technologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Animal models of human disease: zebrafish swim into view

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

BMP signalling in craniofacial development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

GDF5 is a second locus for multiple-synostosis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Adenohypophysis formation in the zebrafish and its dependence on sonic hedgehog.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

A zebrafish sox9 gene required for cartilage morphogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Development of the zebrafish inner ear.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Molecular cloning and expression of a human chondroitin synthase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Effective targeted gene 'knockdown' in zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Mutations affecting development of the notochord in zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

dino and mercedes, two genes regulating dorsal development in the zebrafish embryo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

6 July 2018

A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

Aggrecan modulation of growth plate morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

Zebrafish Bmp4 regulates left-right asymmetry at two distinct developmental time points

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

Zebrafish unplugged reveals a role for muscle-specific kinase homologs in axonal pathway choice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

Chondroitin synthase 1 is a key molecule in myeloma cell-osteoclast interactions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

Expression of BMP signalling pathway members in the developing zebrafish inner ear and lateral line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

The endoderm plays an important role in patterning the segmented pharyngeal region in zebrafish (Danio rerio).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

Wnt5 is required for tail formation in the zebrafish embryo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

Mutations affecting development of the zebrafish inner ear and lateral line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997369

27 October 2018

Xenopus embryos regulate the nuclear localization of XMyoD

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GRR: graphical representation of relationship errors

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.10.003

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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