(Q51216598)

1 April 2018

title

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. (English)

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1 April 2018

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Kazuki Takeda

1

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1 April 2018

Ikuyo Kou

2

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1 April 2018

Noriaki Kawakami

3

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1 April 2018

Aritoshi Iida

4

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1 April 2018

Masahiro Nakajima

5

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1 April 2018

Yoji Ogura

6

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1 April 2018

Eri Imagawa

7

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1 April 2018

Noriko Miyake

8

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1 April 2018

Naomichi Matsumoto

9

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1 April 2018

Yukuto Yasuhiko

10

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1 April 2018

Hideki Sudo

11

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1 April 2018

Toshiaki Kotani

12

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1 April 2018

Japan Early Onset Scoliosis Research Group

13

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1 April 2018

Masaya Nakamura

14

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1 April 2018

Morio Matsumoto

15

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1 April 2018

Kota Watanabe

16

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1 April 2018

Shiro Ikegawa

17

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1 April 2018

publication date

5 January 2017

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1 April 2018

published in

Human Mutation

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1 April 2018

volume

38

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1 April 2018

issue

3

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1 April 2018

page(s)

317-323

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1 April 2018

Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

A missense T (Brachyury) mutation contributes to vertebral malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

An analysis of PAX1 in the development of vertebral malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Three-dimensional analysis of formation failure in congenital scoliosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Mutated MESP2 causes spondylocostal dysostosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

TBX6 null variants and a common hypomorphic allele in congenital scoliosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

7 January 2021

VEPTR to treat nonsyndromic congenital scoliosis: a multicenter, mid-term follow-up study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

7 January 2021

Evaluation of SLC35A3 as a candidate gene for human vertebral malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

7 January 2021

DLL3 as a candidate gene for vertebral malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

7 January 2021

CYP2D6 genotyping for functional-gene dosage analysis by allele copy number detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

7 January 2021

Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

7 January 2021

Defective somite patterning in mouse embryos with reduced levels of Tbx6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23168

7 January 2021

Identifiers

DOI

10.1002/HUMU.23168

1 reference

1 April 2018

PubMed ID

28054739

1 reference

1 April 2018