(Q41757658)

8 October 2017

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations (English)

1 reference

ABL proto-oncogene 1, non-receptor tyrosine kinase

8 October 2017

0 references

1 reference

GOA release 2020-03-11

kinase activity

1 reference

GOA release 2020-03-11

Xia Wang

1

0 references

Lihadh Al-Gazali

6

object named as

Lihadh Al-Gazali

1 reference

8 October 2017

18

James R Lupski

1 reference

8 October 2017

13

Richard A Gibbs

1 reference

8 October 2017

12

Donna M Muzny

1 reference

8 October 2017

14

Christine M Eng

1 reference

8 October 2017

20

Yaping Yang

1 reference

8 October 2017

4

Jill A Rosenfeld

1 reference

8 October 2017

17

Sharon E Plon

1 reference

8 October 2017

Wu-Lin Charng

2

1 reference

8 October 2017

Chun-An Chen

3

1 reference

8 October 2017

Aisha Al Shamsi

5

1 reference

8 October 2017

Marianne McGuire

7

1 reference

8 October 2017

Nicholas Ah Mew

8

1 reference

8 October 2017

Georgianne L Arnold

9

1 reference

8 October 2017

Chunjing Qu

10

1 reference

8 October 2017

Yan Ding

11

1 reference

8 October 2017

Magdalena Walkiewicz

15

1 reference

8 October 2017

Fan Xia

16

1 reference

8 October 2017

Christian P Schaaf

19

1 reference

8 October 2017

language of work or name

English

0 references

publication date

13 March 2017

1 reference

8 October 2017

1 reference

8 October 2017

49

1 reference

8 October 2017

613-617

1 reference

8 October 2017

4

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.3815

8 October 2017

0 references

cites work

A newborn with teratogenic effect of imatinib mesylate: a very rare case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Molecular findings among patients referred for clinical whole-exome sequencing

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

A method and server for predicting damaging missense mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

c-Abl tyrosine kinase regulates cardiac growth and development

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Fast and accurate long-read alignment with Burrows-Wheeler transform

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Kinase mutations in human disease: interpreting genotype-phenotype relationships

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

A SNP discovery method to assess variant allele probability from next-generation resequencing data

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Issues of imatinib and pregnancy outcome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

The effects of imatinib on pregnancy outcome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Germline mutations in HRAS proto-oncogene cause Costello syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Structural basis for the autoinhibition of c-Abl tyrosine kinase

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

A myristoyl/phosphotyrosine switch regulates c-Abl

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

MutationTaster2: mutation prediction for the deep-sequencing age.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Pregnancy among patients with chronic myeloid leukemia treated with imatinib.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

Mice deficient in Abl are osteoporotic and have defects in osteoblast maturation

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5373987

A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia

2 December 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3815

7 January 2021

inferred from DOI database lookup

HRAS mutation mosaicism causing urothelial cancer and epidermal nevus

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3815

7 January 2021

inferred from DOI database lookup

c-Abl has high intrinsic tyrosine kinase activity that is stimulated by mutation of the Src homology 3 domain and by autophosphorylation at two distinct regulatory tyrosines

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3815

7 January 2021

inferred from DOI database lookup

Transgenes encoding both type I and type IV c-abl proteins rescue the lethality of c-abl mutant mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28288113

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.3815

1 reference

Dimensions Publication ID

8 October 2017

0 references

1 reference

8 October 2017

1 reference