Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
暂无分享,去创建一个
L. Vissers | R. Pfundt | O. Devinsky | S. Fisher | J. van Reeuwijk | C. Gilissen | P. J. van der Spek | T. Kleefstra | S. Fitzgerald-Butt | M. Barat‐Houari | R. McGowan | J. M. van de Kamp | U. Kini | S. Ware | B. Helm | L. Faivre | J. Goos | G. Santen | S. Lynch | I. Mathijssen | B. Angle | S. Odent | G. Lesca | A. Stegmann | N. Chatron | D. Geneviève | C. Dubourg | A. Putoux | C. Ockeloen | I. Valenzuela | F. Elmslie | Anne-Sophie Denommé-Pichon | A. Dingemans | D. Rots | A. Sorlin | A. Vitobello | E. de Boer | M. M. Wong | K. Low | S. Swagemakers | Erina Sasaki | Tazeen Ashraf | Amaia Lasa-Aranzasti | R. Baker | J. Hampstead | R. A. Kampen | M. Wéber | Lukas Lutje | Jesitha Sivanathan | Éléonore Viora-Dupont | T. Ashraf | Sara M. Fitzgerald-Butt | Juliet E. Hampstead | A. Denommé-Pichon | É. Viora-Dupont | Rosalie A. Kampen
[1] Oriol Vinyals,et al. Highly accurate protein structure prediction with AlphaFold , 2021, Nature.
[2] Yun Yang,et al. Two loss‐of‐function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway , 2020, American journal of medical genetics. Part A.
[3] C. Hanly,et al. Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review , 2020, Clinical genetics.
[4] Rebecca C. Spillmann,et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction , 2020, bioRxiv.
[5] Patrick J. Short,et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data , 2020, Nature.
[6] B. Puisac,et al. Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome , 2020, American journal of medical genetics. Part A.
[7] M. Digilio,et al. KBG syndrome: Common and uncommon clinical features based on 31 new patients , 2020, American journal of medical genetics. Part A.
[8] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[9] Michael F. Wangler,et al. Biases in arginine codon usage correlate with genetic disease risk , 2019, bioRxiv.
[10] F. Cremers,et al. Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 , 2019, Human mutation.
[11] David G. Knowles,et al. Predicting Splicing from Primary Sequence with Deep Learning , 2019, Cell.
[12] Tudor Groza,et al. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources , 2018, Nucleic Acids Res..
[13] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[14] M. Tekin,et al. KBG syndrome , 2017, Orphanet Journal of Rare Diseases.
[15] G. Vriend,et al. Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. , 2017, American journal of human genetics.
[16] M. Daly,et al. Regional missense constraint improves variant deleteriousness prediction , 2017, bioRxiv.
[17] R. Pfundt,et al. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 , 2016, American journal of medical genetics. Part A.
[18] J. Clayton-Smith,et al. Clinical and genetic aspects of KBG syndrome , 2016, American Journal of Medical Genetics. Part A.
[19] F. Cunningham,et al. The Ensembl Variant Effect Predictor , 2016, Genome Biology.
[20] Desmond G. Higgins,et al. ProViz—a web-based visualization tool to investigate the functional and evolutionary features of protein sequences , 2016, Nucleic Acids Res..
[21] D. Valle,et al. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.
[22] Bale,et al. 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 , 2015, Genetics in Medicine.
[23] Lin Gao,et al. HPOSim: An R Package for Phenotypic Similarity Measure and Enrichment Analysis Based on the Human Phenotype Ontology , 2015, PloS one.
[24] S. Scherer,et al. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. , 2015, Developmental cell.
[25] Tomas W. Fitzgerald,et al. Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.
[26] B. V. van Bon,et al. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations , 2014, European Journal of Human Genetics.
[27] Juan I. Young,et al. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome , 2015, Human Genetics.
[28] Mustafa Tekin,et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. , 2011, American journal of human genetics.
[29] Manuel Corpas,et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.
[30] Steve D. M. Brown,et al. An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda. , 2008, Physiological genomics.
[31] Chia-Wei Li,et al. Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1. , 2007, Biochemical and biophysical research communications.
[32] Philip S. Yu,et al. A new method to measure the semantic similarity of GO terms , 2007, Bioinform..
[33] A. Slavotinek,et al. KBG Syndrome: Report of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria , 2007 .
[34] Sofia Khan,et al. Spectrum of disease-causing mutations in protein secondary structures , 2015 .
[35] A. Zhang,et al. Identification of a Novel Family of Ankyrin Repeats Containing Cofactors for p160 Nuclear Receptor Coactivators* , 2004, Journal of Biological Chemistry.
[36] M. Walsh,et al. CCAAT displacement protein/cut homolog recruits G9a histone lysine methyltransferase to repress transcription. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[37] M. Nachman,et al. Estimate of the mutation rate per nucleotide in humans. , 2000, Genetics.
[38] J. Trent,et al. WAF1, a potential mediator of p53 tumor suppression , 1993, Cell.
[39] Peter J. Rousseeuw,et al. Clustering by means of medoids , 1987 .
[40] J. Opitz,et al. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. , 1975, Birth defects original article series.