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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1001/jama.2014.14601openalex-snapshot
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
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SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling
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A Myristoyl/Phosphotyrosine Switch Regulates c-Abl
inferredcites →https://doi.org/10.1016/s0092-8674(03)00194-6openalex-snapshot
Structural Basis for the Autoinhibition of c-Abl Tyrosine Kinase
inferredcites →https://doi.org/10.1038/300765a0openalex-snapshot
A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia
inferredcites →https://doi.org/10.1038/73542openalex-snapshot
Mice deficient in Abl are osteoporotic and have defects in osteoblast maturation
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Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling
inferredcites →https://doi.org/10.1038/ng1641openalex-snapshot
Germline mutations in HRAS proto-oncogene cause Costello syndrome
inferredcites →https://doi.org/10.1038/ng772openalex-snapshot
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
inferredcites →https://doi.org/10.1038/nmeth.2890openalex-snapshot
MutationTaster2: mutation prediction for the deep-sequencing age
inferredcites →https://doi.org/10.1038/nmeth0410-248openalex-snapshot
A method and server for predicting damaging missense mutations
inferredcites →https://doi.org/10.1038/nprot.2009.86openalex-snapshot
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
inferredcites →https://doi.org/10.1038/nrg2707openalex-snapshot
Kinase mutations in human disease: interpreting genotype–phenotype relationships
inferredcites →https://doi.org/10.1056/nejmc1109381openalex-snapshot
HRASMutation Mosaicism Causing Urothelial Cancer and Epidermal Nevus
inferredcites →https://doi.org/10.1056/nejmoa1306555openalex-snapshot
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
inferredcites →https://doi.org/10.1073/pnas.0913131107openalex-snapshot
c-Abl tyrosine kinase regulates cardiac growth and development
inferredcites →https://doi.org/10.1074/jbc.m005401200openalex-snapshot
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
inferredcites →https://doi.org/10.1093/bioinformatics/btp324openalex-snapshot
Fast and accurate short read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1093/bioinformatics/btp698openalex-snapshot
Fast and accurate long-read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1101/gr.096388.109openalex-snapshot
A SNP discovery method to assess variant allele probability from next-generation resequencing data
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A Newborn with Teratogenic Effect of Imatinib Mesylate: A Very Rare Case Report
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The effects of imatinib on pregnancy outcome
inferredcites →https://doi.org/10.1200/jco.2005.04.6557openalex-snapshot
Pregnancy Among Patients With Chronic Myeloid Leukemia Treated With Imatinib
inferredcites →https://doi.org/10.6004/jnccn.2009.0069openalex-snapshot
Issues of Imatinib and Pregnancy Outcome
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4781335openalex-extracted
The Abl1 Tyrosine Kinase and p53 are Key Players in Doxorubicin-Induced Cardiomyopathy and Their Cell Death Signaling Differs in Atrial and Ventricular Cardiomyocytes
inferred← citeshttps://doi.org/10.1001/jamanetworkopen.2020.22927openalex-snapshot
Assessment of Birth Defects and Cancer Risk in Children Conceived via In Vitro Fertilization in the US
inferred← citeshttps://doi.org/10.1002/9780470015902.a0029414openalex-snapshot
Genetics of Diaphragmatic Hernia
inferred← citeshttps://doi.org/10.1002/acn3.622openalex-snapshot
Phenotypic expansion in DDX 3X – a common cause of intellectual disability in females
inferred← citeshttps://doi.org/10.1002/ajmg.a.62194openalex-snapshot
Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.63189openalex-snapshot
ABL1‐related congenital heart defects and skeletal malformations syndrome in a patient from Sub‐Saharan Africa: A case report highlighting novel cardiac features
inferred← citeshttps://doi.org/10.1002/ajmg.a.63718openalex-snapshot
Dandy–Walker malformation in an individual with ABL1 variant
inferred← citeshttps://doi.org/10.1002/ajmg.a.63996openalex-snapshot
A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.70293openalex-snapshot
Clinical and Functional Characterization of Gain‐of‐Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM
inferred← citeshttps://doi.org/10.1002/humu.23950openalex-snapshot
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1002/humu.24075openalex-snapshot
The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndrome
inferred← citeshttps://doi.org/10.1002/pd.6099openalex-snapshot
Underlying genetic etiologies of congenital diaphragmatic hernia
inferred← citeshttps://doi.org/10.1007/978-3-032-19328-5_13openalex-snapshot
Pathophysiology and Management of Hereditary Aneurysmal Aortopathies
inferred← citeshttps://doi.org/10.1007/s00246-018-1822-yopenalex-snapshot
A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle
inferred← citeshttps://doi.org/10.1007/s00380-018-1289-zopenalex-snapshot
ISL1 loss-of-function mutation contributes to congenital heart defects
inferred← citeshttps://doi.org/10.1007/s00439-017-1832-5openalex-snapshot
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth
inferred← citeshttps://doi.org/10.1007/s00439-024-02677-yopenalex-snapshot
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome
inferred← citeshttps://doi.org/10.1007/s11427-024-2861-9openalex-snapshot
Molecular genetics of congenital heart disease
inferred← citeshttps://doi.org/10.1007/s11684-020-0778-5openalex-snapshot
Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation by targeting HAND2
inferred← citeshttps://doi.org/10.1016/b978-0-12-822951-4.00008-4openalex-snapshot
Aortic and arterial diseases (Aortopathies)
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.06.005openalex-snapshot
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
inferred← citeshttps://doi.org/10.1016/j.bbadis.2025.167799openalex-snapshot
Multiple classes of human intracellular Heme-binding proteins with pathology-associated polymorphisms of heme coordinating residues
inferred← citeshttps://doi.org/10.1016/j.ejmg.2017.12.003openalex-snapshot
A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect
inferred← citeshttps://doi.org/10.1016/j.gene.2019.144134openalex-snapshot
Unity and diversity among viral kinases
inferred← citeshttps://doi.org/10.1016/j.gim.2021.11.021openalex-snapshot
Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing
inferred← citeshttps://doi.org/10.1016/j.ijcard.2020.10.032openalex-snapshot
Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect
inferred← citeshttps://doi.org/10.1016/j.ijcchd.2023.100460openalex-snapshot
Skeletal system in adult congenital heart disease
inferred← citeshttps://doi.org/10.1016/j.leukres.2020.106458openalex-snapshot
The specificity of asciminib, a potential treatment for chronic myeloid leukemia, as a myristate-pocket binding ABL inhibitor and analysis of its interactions with mutant forms of BCR-ABL1 kinase
inferred← citeshttps://doi.org/10.1016/j.neo.2018.09.002openalex-snapshot
Interaction of Abl Tyrosine Kinases with SOCS3 Impairs Its Suppressor Function in Tumorigenesis
inferred← citeshttps://doi.org/10.1038/s41392-026-02729-xopenalex-snapshot
Non-receptor tyrosine kinase signaling pathways and therapeutic implications
inferred← citeshttps://doi.org/10.1038/s41431-020-00766-wopenalex-snapshot
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
inferred← citeshttps://doi.org/10.1038/s41436-018-0408-7openalex-snapshot
Insights into genetics, human biology and disease gleaned from family based genomic studies
inferred← citeshttps://doi.org/10.1038/s42003-025-09021-8openalex-snapshot
Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis
inferred← citeshttps://doi.org/10.1042/cs20258047openalex-snapshot
Protein lipidation in cardiovascular homeostasis, development, and disease
inferred← citeshttps://doi.org/10.1093/bib/bbaf491openalex-snapshot
A survey on deep learning for drug-target binding prediction: models, benchmarks, evaluation, and case studies
inferred← citeshttps://doi.org/10.1097/hco.0000000000000954openalex-snapshot
Update on the molecular landscape of thoracic aortic aneurysmal disease
inferred← citeshttps://doi.org/10.1097/mcd.0000000000000415openalex-snapshot
Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review
inferred← citeshttps://doi.org/10.1097/md.0000000000014782openalex-snapshot
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome
inferred← citeshttps://doi.org/10.1101/2020.05.04.077024openalex-snapshot
Tyrosine kinase inhibitors induce mitochondrial dysfunction during cardiomyocyte differentiation through alteration of GATA4-mediated networks
inferred← citeshttps://doi.org/10.1101/2023.10.04.560671openalex-snapshot
The molecular basis of Abelson kinase regulation by its αI-helix
inferred← citeshttps://doi.org/10.1101/2025.02.13.25322190openalex-snapshot
Identification of novel vertebral development factors through UK Biobank driven genetic and body imaging analysis reveals markers for back pain
inferred← citeshttps://doi.org/10.1101/2025.05.19.25327541openalex-snapshot
Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities
inferred← citeshttps://doi.org/10.1111/cge.14609openalex-snapshot
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases
inferred← citeshttps://doi.org/10.1111/jcmm.15298openalex-snapshot
Hypermethylation‐mediated down‐regulation of lncRNA TBX5‐AS1:2 in Tetralogy of Fallot inhibits cell proliferation by reducing TBX5 expression
inferred← citeshttps://doi.org/10.1136/jmedgenet-2020-107317openalex-snapshot
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
inferred← citeshttps://doi.org/10.1146/annurev-genom-111521-104455openalex-snapshot
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection
inferred← citeshttps://doi.org/10.11606/t.5.2017.tde-18122017-091713openalex-snapshot
Aplicabilidade clínica da técnica de sequenciamento de nova geração com enfoque em displasias esqueléticas
inferred← citeshttps://doi.org/10.1161/atvbaha.118.312315openalex-snapshot
Ponatinib Combined With Rapamycin Causes Regression of Murine Venous Malformation
inferred← citeshttps://doi.org/10.1177/11795468251406974openalex-snapshot
Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the ABL1 Gene in a Peruvian patient: Case Report
inferred← citeshttps://doi.org/10.1186/s12884-024-06623-8openalex-snapshot
Pregnancy induced hypertension and umbilical cord blood DNA methylation in newborns: an epigenome-wide DNA methylation study
inferred← citeshttps://doi.org/10.1186/s12967-024-05623-8openalex-snapshot
The Abl1 tyrosine kinase is a key player in doxorubicin-induced cardiomyopathy and its p53/p73 cell death mediated signaling differs in atrial and ventricular cardiomyocytes
inferred← citeshttps://doi.org/10.1536/ihj.18-685openalex-snapshot
A New ISL1 Loss-of-Function Mutation Predisposes to Congenital Double Outlet Right Ventricle
inferred← citeshttps://doi.org/10.18203/2349-3933.ijam20211066openalex-snapshot
Congenital heart defects and skeletal malformation syndrome with congenital hemiplegia
inferred← citeshttps://doi.org/10.21203/rs.3.rs-2202852/v1openalex-snapshot
Sex modulates the human genome regulatory network during heart failure and aging.
inferred← citeshttps://doi.org/10.3389/fcell.2021.665514openalex-snapshot
The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases
inferred← citeshttps://doi.org/10.3389/fcell.2025.1630894openalex-snapshot
Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele
inferred← citeshttps://doi.org/10.3389/fcvm.2022.1041039openalex-snapshot
Case report: Active clinical manifestation of endocardial fibroelastosis in adolescence in a patient with mitral and aortic obstruction–histologic presence of endothelial-to-mesenchymal transformation
inferred← citeshttps://doi.org/10.3389/fendo.2022.862908openalex-snapshot
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
inferred← citeshttps://doi.org/10.3390/biology12101290openalex-snapshot
Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease
inferred← citeshttps://doi.org/10.3390/genes12091405openalex-snapshot
The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia
inferred← citeshttps://doi.org/10.3390/genes16070814openalex-snapshot
Molecular Network Analysis and Effector Gene Prioritization of Endurance-Training-Influenced Modulation of Cardiac Aging
inferred← citeshttps://doi.org/10.3410/f.734881195.793557392openalex-snapshot
Faculty Opinions recommendation of Insights into genetics, human biology and disease gleaned from family based genomic studies.
inferred← citeshttps://doi.org/10.6084/m9.figshare.26054655openalex-snapshot
Additional file 1 of Pregnancy induced hypertension and umbilical cord blood DNA methylation in newborns: an epigenome-wide DNA methylation study
inferred← citeshttps://doi.org/10.6084/m9.figshare.26054756openalex-snapshot
Additional file 2 of Pregnancy induced hypertension and umbilical cord blood DNA methylation in newborns: an epigenome-wide DNA methylation study
inferred← citeshttps://doi.org/10.6084/m9.figshare.26734992openalex-snapshot
Additional file 3 of Pregnancy induced hypertension and umbilical cord blood DNA methylation in newborns: an epigenome-wide DNA methylation study
inferred← citeshttps://doi.org/10.6084/m9.figshare.26734995openalex-snapshot
Additional file 4 of Pregnancy induced hypertension and umbilical cord blood DNA methylation in newborns: an epigenome-wide DNA methylation study
inferred← citeshttps://doi.org/10.7124/bc.000b09openalex-snapshot
Tyrosine kinase ABL1 as a promising molecular target for anticancer drugs 17
inferred← citeshttps://doi.org/10.7150/ijms.21353openalex-snapshot
MEF2C loss-of-function mutation contributes to congenital heart defects
inferred← citeshttps://doi.org/10.7554/elife.92324openalex-snapshot
The molecular basis of Abelson kinase regulation by its αI-helix
inferred← citeshttps://doi.org/10.7554/elife.92324.1openalex-snapshot
The molecular basis of Abelson kinase regulation by its αI-helix
inferred← citeshttps://doi.org/10.7554/elife.92324.2openalex-snapshot
The molecular basis of Abelson kinase regulation by its αI-helix
inferred← citeshttps://doi.org/10.7554/elife.92324.2.sa1openalex-snapshot
Reviewer #1 (Public Review): The molecular basis of Abelson kinase regulation by its αI-helix
inferred← citeshttps://doi.org/10.7554/elife.92324.3openalex-snapshot
The molecular basis of Abelson kinase regulation by its αI-helix
inferred← citeshttps://doi.org/10.9794/jspccs.37.193openalex-snapshot
Comprehensive Genetic Analysis in Congenital Heart Disease
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