(Q48184143)

9 February 2018

title

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies (English)

1 reference

9 February 2018

1 reference

Alexander W Wyatt

1

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9 February 2018

Robert J Osborne

series ordinal

2

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9 February 2018

Helen Stewart

series ordinal

3

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9 February 2018

Nicola K Ragge

series ordinal

4

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9 February 2018

publication date

1 July 2010

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9 February 2018

published in

Human Mutation

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9 February 2018

volume

31

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9 February 2018

issue

7

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9 February 2018

page(s)

781-787

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9 February 2018

Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs

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SOX2 anophthalmia syndrome.

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GDF6, a novel locus for a spectrum of ocular developmental anomalies

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7 January 2021

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

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7 January 2021

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

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7 January 2021

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

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7 January 2021

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

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7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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7 January 2021

Early eye development in vertebrates

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7 January 2021

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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7 January 2021

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease

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7 January 2021

A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Nonsense-mediated decay approaches the clinic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Colocalization of BMP 7 and BMP 2 RNAs suggests that these factors cooperatively mediate tissue interactions during murine development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Transcriptome genetics using second generation sequencing in a Caucasian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

The regulation of TGFbeta signal transduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Bone morphogenetic proteins specify the retinal pigment epithelium in the chick embryo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Distinct developmental programs require different levels of Bmp signaling during mouse retinal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Understanding mechanisms underlying human gene expression variation with RNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Transforming growth factor-beta 3 is required for secondary palate fusion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Conditional deletion of BMP7 from the limb skeleton does not affect bone formation or fracture repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Bone: formation by autoinduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Mechanisms of non-Mendelian inheritance in genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

BMP7 acts in murine lens placode development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Deletion of BMP7 affects the development of bones, teeth, and other ectodermal appendages of the orofacial complex.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Generation and functional characterization of mice with a conditional BMP7 allele.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21280

7 January 2021

Identifiers

DOI

10.1002/HUMU.21280

1 reference

9 February 2018

1 reference

9 February 2018