Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. (Q50538593)

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6 March 2020

title

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia (English)

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6 March 2020

13

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6 March 2020

Martin Hrabě de Angelis

17

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6 March 2020

Gerhard Przemeck

6

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6 March 2020

Eva Klopocki

14

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6 March 2020

author name string

Susanne Diener

1

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6 March 2020

Sieglinde Bayer

2

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6 March 2020

Sibylle Sabrautzki

3

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6 March 2020

Thomas Wieland

4

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6 March 2020

Birgit Mentrup

5

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6 March 2020

Birgit Rathkolb

7

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6 March 2020

Elisabeth Graf

8

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6 March 2020

Wolfgang Hans

9

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6 March 2020

Helmut Fuchs

10

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6 March 2020

Marion Horsch

11

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6 March 2020

Thomas Schwarzmayr

12

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6 March 2020

Franz Jakob

15

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6 March 2020

Tim M Strom

16

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6 March 2020

Bettina Lorenz-Depiereux

18

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6 March 2020

publication date

23 January 2016

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6 March 2020

number of pages

11

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inferred from page(s)

published in

Mammalian Genome

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6 March 2020

volume

27

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6 March 2020

page(s)

111-121

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6 March 2020

issue

3-4

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https://scigraph.springernature.com/pub.10.1007/s00335-016-9619-x

6 March 2020

exact match

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cites work

Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters.

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

DNA polymerase beta-like nucleotidyltransferase superfamily: identification of three new families, classification and evolutionary history

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

From receptor to nucleus: the Smad pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Biomarkers for Refractory Lupus Nephritis: A Microarray Study of Kidney Tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Identification of FAM46D as a novel cancer/testis antigen using EST data and serological analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

TGF-β and BMP signaling in osteoblast differentiation and bone formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Functional proteomics mapping of a human signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Family-with-sequence-similarity-46, member A (Fam46a) gene is expressed in developing tooth buds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with susceptibility to tuberculosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Transforming growth factor-beta1 to the bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Genotype-specific environmental impact on the variance of blood values in inbred and F1 hybrid mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Integrative genomics viewer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

A diverse range of gene products are effectors of the type I interferon antiviral response

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-016-9619-X

Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6

21 January 2018

1 reference

12 December 2020

Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs

1 reference

12 December 2020

Normal long bone growth and development in type X collagen-null mice

1 reference

12 December 2020

The skeletal dysplasias

1 reference

12 December 2020

Biochemical markers of bone turnover: part I: biochemistry and variability

1 reference

12 December 2020