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Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

https://doi.org/10.1101/693937
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inferredcites →https://doi.org/10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2openalex-snapshot
New mesomelic dysplasia with absent fibulae and triangular tibiae
inferredcites →https://doi.org/10.1002/ajmg.10283openalex-snapshot
Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts
inferredcites →https://doi.org/10.1002/ajmg.a.30785openalex-snapshot
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome
inferredcites →https://doi.org/10.1002/ajmg.a.31888openalex-snapshot
A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types
inferredcites →https://doi.org/10.1002/ajmg.a.33909openalex-snapshot
Nosology and classification of genetic skeletal disorders: 2010 revision
inferredcites →https://doi.org/10.1002/ajmg.a.37365openalex-snapshot
Nosology and classification of genetic skeletal disorders: 2015 revision
inferredcites →https://doi.org/10.1002/ajmg.a.61174openalex-snapshot
Clinical and molecular spectrum of CHOPS syndrome
inferredcites →https://doi.org/10.1002/cpmo.12openalex-snapshot
Histomorphological Phenotyping of the Adult Mouse Brain
inferredcites →https://doi.org/10.1002/humu.22529openalex-snapshot
TBC1D7Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease
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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
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WNT signaling in bone development and homeostasis
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The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping
inferredcites →https://doi.org/10.1016/j.celrep.2015.01.016openalex-snapshot
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice
inferredcites →https://doi.org/10.1016/j.jpeds.2014.10.015openalex-snapshot
Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation
inferredcites →https://doi.org/10.1016/j.str.2005.12.013openalex-snapshot
Elucidation of the Substrate Binding Site of Siah Ubiquitin Ligase
inferredcites →https://doi.org/10.1038/gim.2015.148openalex-snapshot
Clinical application of whole-exome sequencing across clinical indications
inferredcites →https://doi.org/10.1038/gim.2015.30openalex-snapshot
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
inferredcites →https://doi.org/10.1038/leu.2013.135openalex-snapshot
The MLL recombinome of acute leukemias in 2013
inferredcites →https://doi.org/10.1038/msb.2011.75openalex-snapshot
Fast, scalable generation of high‐quality protein multiple sequence alignments using Clustal Omega
inferredcites →https://doi.org/10.1038/nature10163openalex-snapshot
A conditional knockout resource for the genome-wide study of mouse gene function
inferredcites →https://doi.org/10.1038/nature14135openalex-snapshot
Large-scale discovery of novel genetic causes of developmental disorders
inferredcites →https://doi.org/10.1038/ng.3229openalex-snapshot
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
inferredcites →https://doi.org/10.1038/ng0596-105openalex-snapshot
Identification of the gene FMR2, associated with FRAXE mental retardation
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/nrm3417openalex-snapshot
The super elongation complex (SEC) family in transcriptional control
inferredcites →https://doi.org/10.1038/nrm3953openalex-snapshot
Getting up to speed with transcription elongation by RNA polymerase II
inferredcites →https://doi.org/10.1038/oncsis.2015.20openalex-snapshot
Combined transcriptome studies identify AFF3 as a mediator of the oncogenic effects of β-catenin in adrenocortical carcinoma
inferredcites →https://doi.org/10.1046/j.1365-2141.1997.1522966.xopenalex-snapshot
Exon/intron structure of the human AF‐4 gene, a member of the AF‐4/LAF‐4/FMR‐2 gene family coding for a nuclear protein with structural alterations in acute leukaemia
inferredcites →https://doi.org/10.1055/s-0034-1365142openalex-snapshot
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction
inferredcites →https://doi.org/10.1073/pnas.0406196101openalex-snapshot
Mediation of Af4 protein function in the cerebellum by Siah proteins
inferredcites →https://doi.org/10.1073/pnas.0534783100openalex-snapshot
A binding motif for Siah ubiquitin ligase
inferredcites →https://doi.org/10.1073/pnas.1209647109openalex-snapshot
Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal
inferredcites →https://doi.org/10.1074/jbc.m506707200openalex-snapshot
Structural Analysis of Siah1-Siah-interacting Protein Interactions and Insights into the Assembly of an E3 Ligase Multiprotein Complex
inferredcites →https://doi.org/10.1080/14734220500325897openalex-snapshot
The robotic mouse: Unravelling the function of AF4 in the cerebellum
inferredcites →https://doi.org/10.1093/bioinformatics/btp033openalex-snapshot
Jalview Version 2—a multiple sequence alignment editor and analysis workbench
inferredcites →https://doi.org/10.1093/bioinformatics/btv195openalex-snapshot
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
inferredcites →https://doi.org/10.1093/hmg/ddr069openalex-snapshot
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability
inferredcites →https://doi.org/10.1093/hmg/ddv014openalex-snapshot
Common polymorphisms in WNT10A affect tooth morphology as well as hair shape
inferredcites →https://doi.org/10.1093/jmcb/mjy074openalex-snapshot
AFF3-DNA methylation interplay in maintaining the mono-allelic expression pattern of XIST in terminally differentiated cells
inferredcites →https://doi.org/10.1093/nar/gkw1051openalex-snapshot
A permissive chromatin state regulated by ZFP281-AFF3 in controlling the imprinted Meg3 polycistron
inferredcites →https://doi.org/10.1101/060806openalex-snapshot
Varapp: A reactive web-application for variants filtering
inferredcites →https://doi.org/10.1101/531210openalex-snapshot
The mutational constraint spectrum quantified from variation in 141,456 humans
inferredcites →https://doi.org/10.1101/641043openalex-snapshot
Identification of pathogenic variant enriched regions across genes and gene families
inferredcites →https://doi.org/10.1101/gad.270413.115openalex-snapshot
Regulation of the imprinted Dlk1-Dio3 locus by allele-specific enhancer activity
inferredcites →https://doi.org/10.1101/gr.252601.119openalex-snapshot
Identification of pathogenic variant enriched regions across genes and gene families
inferredcites →https://doi.org/10.1111/j.1399-0004.2008.01050.xopenalex-snapshot
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4
inferredcites →https://doi.org/10.1128/mcb.00182-12openalex-snapshot
The Super Elongation Complex Family of RNA Polymerase II Elongation Factors: Gene Target Specificity and Transcriptional Output
inferredcites →https://doi.org/10.1128/mcb.25.15.6834-6845.2005openalex-snapshot
Infertility with Defective Spermiogenesis in Mice Lacking AF5q31, the Target of Chromosomal Translocation in Human Infant Leukemia
inferredcites →https://doi.org/10.1186/1471-2105-13-173openalex-snapshot
Defining and searching for structural motifs using DeepView/Swiss-PdbViewer
inferredcites →https://doi.org/10.1186/s13073-015-0191-xopenalex-snapshot
Cpipe: a shared variant detection pipeline designed for diagnostic settings
inferredcites →https://doi.org/10.1186/s13073-017-0433-1openalex-snapshot
Genomic diagnosis for children with intellectual disability and/or developmental delay
inferredcites →https://doi.org/10.1242/dev.128.5.791openalex-snapshot
Lilliputian: an AF4/FMR2-related protein that controls cell identity and cell growth
inferredcites →https://doi.org/10.1242/dev.128.5.801openalex-snapshot
Transcriptional regulation of cytoskeletal functions and segmentation by a novel maternal pair-rule gene, lilliputian
inferredcites →https://doi.org/10.1371/journal.pgen.1004242openalex-snapshot
FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3
inferredcites →https://doi.org/10.1371/journal.pone.0105933openalex-snapshot
Laf4/Aff3, a Gene Involved in Intellectual Disability, Is Required for Cellular Migration in the Mouse Cerebral Cortex
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