Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles (Q41259219)

28 September 2017

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles (English)

1 reference

28 September 2017

0 references

Qiongshi Lu

4

0 references

Peter W. Hashim

object named as

Peter W Hashim

17

0 references

Kevin Pelphrey

21

object named as

Kevin A Pelphrey

1 reference

28 September 2017

7

Kaya Bilguvar

1 reference

28 September 2017

6

Eric D Brooks

1 reference

28 September 2017

10

Jenny F Yang

1 reference

28 September 2017

18

Derek M Steinbacher

1 reference

28 September 2017

15

Carolyn Chuang

1 reference

28 September 2017

Andrew T Timberlake

1

1 reference

28 September 2017

Jungmin Choi

2

1 reference

28 September 2017

Samir Zaidi

3

1 reference

28 September 2017

Carol Nelson-Williams

5

1 reference

28 September 2017

Irina Tikhonova

8

1 reference

28 September 2017

Shrikant Mane

9

1 reference

28 September 2017

Rajendra Sawh-Martinez

11

1 reference

28 September 2017

Sarah Persing

12

1 reference

28 September 2017

Elizabeth G Zellner

13

1 reference

28 September 2017

Erin Loring

14

1 reference

28 September 2017

Amy Galm

16

1 reference

28 September 2017

Michael L DiLuna

19

1 reference

28 September 2017

Charles C Duncan

20

1 reference

28 September 2017

Hongyu Zhao

22

1 reference

28 September 2017

John A Persing

23

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28 September 2017

Richard P Lifton

24

1 reference

28 September 2017

language of work or name

English

0 references

publication date

8 September 2016

1 reference

28 September 2017

1 reference

28 September 2017

5

1 reference

Smurf1 Inhibits Osteoblast Differentiation, Bone Formation, and Glucose Homeostasis through Serine 148.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Understanding craniosynostosis as a growth disorder

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

BMP signalling in skeletal development, disease and repair.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

A Genetic-Pathophysiological Framework for Craniosynostosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

EMBRYO DEVELOPMENT. BMP gradients: A paradigm for morphogen-mediated developmental patterning

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Excess of rare, inherited truncating mutations in autism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

A Bayesian framework for de novo mutation calling in parents-offspring trios

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

The contribution of de novo coding mutations to autism spectrum disorder

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Synaptic, transcriptional and chromatin genes disrupted in autism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

The impact of age at surgery on long-term neuropsychological outcomes in sagittal craniosynostosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

A framework for the interpretation of de novo mutation in human disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Neural crest cell signaling pathways critical to cranial bone development and pathology

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

De novo mutations in histone-modifying genes in congenital heart disease.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Augmentation of Smad-dependent BMP signaling in neural crest cells causes craniosynostosis in mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

De Novo Gene Disruptions in Children on the Autistic Spectrum

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Smad6 is essential to limit BMP signaling during cartilage development

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Cranial sutures: a brief review

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Structural coupling of Smad and Runx2 for execution of the BMP2 osteogenic signal.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

A second generation human haplotype map of over 3.1 million SNPs

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Genetic analysis of non-syndromic craniosynostosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Cooperative inhibition of bone morphogenetic protein signaling by Smurf1 and inhibitory Smads

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Smad6 inhibits BMP/Smad1 signaling by specifically competing with the Smad4 tumor suppressor

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Long-term studies of metopic synostosis: frequency of cognitive impairment and behavioral disturbances

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Interpreting de novo Variation in Human Disease Using denovolyzeR.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Metopic synostosis: Defining the temporal sequence of normal suture fusion and differentiating it from synostosis on the basis of computed tomography images.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Speech, language, and cognitive development in children with isolated sagittal synostosis.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Long-term neuropsychological effects of sagittal craniosynostosis on child development.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5045293

Digenic inheritance and Mendelian disease

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27606499

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.7554/ELIFE.20125

1 reference

28 September 2017

1 reference

28 September 2017

1 reference