| P50 | author | Annette Borchers | Q93069437 |
| P2093 | author name string | Silke Pauli | |
| | Janina Schwenty-Lara | |
| P2860 | cites work | The Contribution of the Neural Crest to the Vertebrate Body | Q22337378 |
| | Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax | Q24321584 |
| | Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth | Q24337427 |
| | Coarctation of the aorta in Kabuki syndrome | Q24515408 |
| | Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome | Q24607321 |
| | Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 |
| | Histone H3K27ac separates active from poised enhancers and predicts developmental state | Q24628758 |
| | CHD7 cooperates with PBAF to control multipotent neural crest formation | Q24630725 |
| | Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases | Q24676547 |
| | Expanding the genetic toolkit in Xenopus: Approaches and opportunities for human disease modeling | Q26750755 |
| | Neural crest induction at the neural plate border in vertebrates | Q27026327 |
| | Chase-and-run between adjacent cell populations promotes directional collective migration | Q27313434 |
| | The role of chromatin during transcription | Q27860995 |
| | Chromatin modifications and their function | Q27861067 |
| | The selection and function of cell type-specific enhancers | Q28081960 |
| | New insights into craniofacial malformations | Q28088384 |
| | Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome | Q28131828 |
| | Transcription regulation by histone methylation: interplay between different covalent modifications of the core histone tails | Q28216534 |
| | Histone modifications at human enhancers reflect global cell-type-specific gene expression | Q28238467 |
| | UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development | Q28241669 |
| | Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome | Q28256091 |
| | KDM6A point mutations cause Kabuki syndrome | Q28277325 |
| | Using Xenopus to study genetic kidney diseases | Q38724901 |
| | Toolbox in a tadpole: Xenopus for kidney research | Q38731540 |
| | A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling | Q38851585 |
| | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations | Q38907092 |
| | Modeling human craniofacial disorders in Xenopus | Q39159160 |
| | Controlled levels of canonical Wnt signaling are required for neural crest migration | Q39657006 |
| | Microinjection of mRNAs and Oligonucleotides | Q88698886 |
| | Assay for Transposase-Accessible Chromatin-Sequencing Using Xenopus Embryos | Q90450823 |
| | ChIP-Sequencing in Xenopus Embryos | Q90450827 |
| | The molecular basis of neural crest axial identity | Q90713537 |
| | Xenopus: An Undervalued Model Organism to Study and Model Human Genetic Disease | Q90855504 |
| | The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration | Q91782878 |
| | The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf-Hirschhorn Syndrome | Q91811171 |
| | Integrating chemical and mechanical signals in neural crest cell migration | Q91891632 |
| | Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders | Q91926131 |
| | Why are so many MLL lysine methyltransferases required for normal mammalian development? | Q92099533 |
| | KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies | Q92560096 |
| | Cell fate decisions during development | Q92571698 |
| | In Vivo and In Vitro Quantitative Analysis of Neural Crest Cell Migration | Q93048373 |
| | Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis | Q93069441 |
| | Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome | Q93073881 |
| | Mechanisms of Neural Crest Migration | Q93372623 |
| | The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology | Q96429479 |
| | Rare heterozygous GDF6 variants in patients with renal anomalies | Q98184320 |
| | Active genes are tri-methylated at K4 of histone H3 | Q29547668 |
| | A unique chromatin signature uncovers early developmental enhancers in humans | Q29614327 |
| | Genomic maps and comparative analysis of histone modifications in human and mouse | Q29614418 |
| | Methylation of lysine 4 on histone H3: intricacy of writing and reading a single epigenetic mark | Q29614516 |
| | Histone methylation in transcriptional control | Q29616553 |
| | Integrin alpha5beta1 supports the migration of Xenopus cranial neural crest on fibronectin | Q30311134 |
| | Pax3 and Zic1 drive induction and differentiation of multipotent, migratory, and functional neural crest in Xenopus embryos | Q30538511 |
| | In vivo confinement promotes collective migration of neural crest cells. | Q30768498 |
| | Identification and characterization of cell type-specific and ubiquitous chromatin regulatory structures in the human genome | Q33294656 |
| | MLL3/MLL4 are required for CBP/p300 binding on enhancers and super-enhancer formation in brown adipogenesis | Q33878669 |
| | Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 |
| | MLL2 mutation spectrum in 45 patients with Kabuki syndrome | Q34161572 |
| | A mutation screen in patients with Kabuki syndrome | Q34186982 |
| | Congenital heart defects in Kabuki syndrome. | Q34245051 |
| | Enhancers as information integration hubs in development: lessons from genomics. | Q34266848 |
| | A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 |
| | Unmasking Kabuki syndrome | Q34310239 |
| | Modification of enhancer chromatin: what, how, and why? | Q34331930 |
| | KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation | Q34385576 |
| | H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation | Q34394362 |
| | UTX and MLL4 coordinately regulate transcriptional programs for cell proliferation and invasiveness in breast cancer cells | Q34401922 |
| | Targeted gene disruption in Xenopus laevis using CRISPR/Cas9. | Q34472831 |
| | Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis. | Q34494007 |
| | Morpholinos: Antisense and Sensibility | Q34499577 |
| | KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation | Q34516463 |
| | Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. | Q34522233 |
| | Enhancer priming by H3K4 methyltransferase MLL4 controls cell fate transition | Q34541837 |
| | Kabuki syndrome: a review | Q34554794 |
| | Mll3 and Mll4 Facilitate Enhancer RNA Synthesis and Transcription from Promoters Independently of H3K4 Monomethylation | Q34556377 |
| | Kabuki syndrome: a review study of three hundred patients | Q34632156 |
| | Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination | Q34673352 |
| | Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 |
| | Contact inhibition of locomotion in vivo controls neural crest directional migration | Q34902880 |
| | Establishing neural crest identity: a gene regulatory recipe | Q34999153 |
| | Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients | Q35121146 |
| | The Drosophila ortholog of MLL3 and MLL4, trithorax related, functions as a negative regulator of tissue growth | Q39788308 |
| | Neurocristopathy: its growth and development in 20 years | Q40914446 |
| | PDGF controls contact inhibition of locomotion by regulating N-cadherin during neural crest migration. | Q41189362 |
| | Otolaryngologic manifestations of Kabuki syndrome | Q41364767 |
| | Integrating chemotaxis and contact-inhibition during collective cell migration: Small GTPases at work | Q41786672 |
| | Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management | Q41926163 |
| | Collective chemotaxis requires contact-dependent cell polarity. | Q42158276 |
| | Reprogramming of avian neural crest axial identity and cell fate | Q42372116 |
| | Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome | Q43084995 |
| | A molecular atlas of the developing ectoderm defines neural, neural crest, placode, and nonneural progenitor identity in vertebrates | Q46523851 |
| | Directional migration of neural crest cells in vivo is regulated by Syndecan-4/Rac1 and non-canonical Wnt signaling/RhoA. | Q46651779 |
| | Genetic analysis of CHARGE syndrome identifies overlapping molecular biology | Q47233062 |
| | Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report | Q47555415 |
| | UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome. | Q47598047 |
| | Neural crest development in the Xenopus laevis embryo, studied by interspecific transplantation and scanning electron microscopy | Q48186610 |
| | Semaphorin and neuropilin expression during early morphogenesis of Xenopus laevis | Q48846064 |
| | Tissue stiffening coordinates morphogenesis by triggering collective cell migration in vivo. | Q50001773 |
| | Sema3a plays a role in the pathogenesis of CHARGE syndrome. | Q50061723 |
| | Cranial Neural Crest Explants | Q50102036 |
| | MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. | Q50237955 |
| | CHARGE and Kabuki syndromes: a phenotypic and molecular link | Q50425734 |
| | Mechanisms and in vivo functions of contact inhibition of locomotion. | Q50479870 |
| | Inner ear abnormalities in Kabuki make-up syndrome: report of three cases. | Q50496447 |
| | Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. | Q50504852 |
| | A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription. | Q50877542 |
| | Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. | Q51938985 |
| | Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. | Q51946739 |
| | Phenotypic spectrum and management issues in Kabuki syndrome. | Q51985916 |
| | Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. | Q52000994 |
| | Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. | Q52096483 |
| | Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. | Q52098012 |
| | Craniofacial and dental characteristics of Kabuki syndrome. | Q52139196 |
| | Neural crest formation in Xenopus laevis: mechanisms of Xslug induction. | Q52200484 |
| | Congenital heart defects in molecularly proven Kabuki syndrome patients. | Q52517700 |
| | KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. | Q52812086 |
| | Redistribution of Adhesive Forces through Src/FAK Drives Contact Inhibition of Locomotion in Neural Crest. | Q55157659 |
| | Neurobehavioral features in individuals with Kabuki syndrome. | Q55497837 |
| | Navigating Xenbase: An Integrated Xenopus Genomics and Gene Expression Database | Q56888707 |
| | CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs | Q57171977 |
| | Supracellular contraction at the rear of neural crest cell groups drives collective chemotaxis | Q58591055 |
| | H3.3K4M destabilizes enhancer H3K4 methyltransferases MLL3/MLL4 and impairs adipose tissue development | Q58600615 |
| | MLL2 and KDM6A mutations in patients with Kabuki syndrome | Q59697631 |
| | The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients | Q59829235 |
| | Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome | Q60548369 |
| | In vivo topology converts competition for cell-matrix adhesion into directional migration | Q64081689 |
| | The Frog as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in | Q64104926 |
| | Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in | Q64119282 |
| | Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate | Q70232056 |
| | An assay system to study migratory behavior of cranial neural crest cells in Xenopus | Q73445245 |
| | Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation? | Q85843610 |
| | A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A | Q87512849 |
| | An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome | Q87956582 |
| | Growth pattern in Kabuki syndrome with a KMT2D mutation | Q88139085 |
| | Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome | Q35524938 |
| | Cranial neural crest and the building of the vertebrate head | Q35549127 |
| | Complement fragment C3a controls mutual cell attraction during collective cell migration | Q35738200 |
| | The activity of Pax3 and Zic1 regulates three distinct cell fates at the neural plate border | Q35810702 |
| | Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development | Q35821188 |
| | How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | Q35837668 |
| | Cadherin Switch during EMT in Neural Crest Cells Leads to Contact Inhibition of Locomotion via Repolarization of Forces | Q36004847 |
| | Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort | Q36078059 |
| | RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome | Q36106023 |
| | Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis | Q36175245 |
| | Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis | Q36282251 |
| | Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders | Q36436834 |
| | Enhancer-associated H3K4 monomethylation by Trithorax-related, the Drosophila homolog of mammalian Mll3/Mll4 | Q36464986 |
| | Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy | Q36733249 |
| | Morpholino injection in Xenopus | Q36808239 |
| | Molecular implementation and physiological roles for histone H3 lysine 4 (H3K4) methylation | Q36824900 |
| | Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome | Q37022749 |
| | Modeling human neurodevelopmental disorders in the Xenopus tadpole: from mechanisms to therapeutic targets | Q37137731 |
| | A gene regulatory network orchestrates neural crest formation | Q37181700 |
| | The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers | Q37336099 |
| | Assembling neural crest regulatory circuits into a gene regulatory network. | Q37540194 |
| | Manipulation of gene function in Xenopus laevis | Q37548273 |
| | Predictive chromatin signatures in the mammalian genome | Q37609802 |
| | Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development. | Q37776076 |
| | Neural crest delamination and migration: from epithelium-to-mesenchyme transition to collective cell migration | Q37977230 |
| | Setting appropriate boundaries: fate, patterning and competence at the neural plate border. | Q38169872 |
| | The role of the non-canonical Wnt-planar cell polarity pathway in neural crest migration | Q38170173 |
| | Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). | Q38188009 |
| | Kabuki syndrome: clinical and molecular diagnosis in the first year of life | Q38256639 |
| | CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance | Q38307798 |
| | Pax3 and Zic1 trigger the early neural crest gene regulatory network by the direct activation of multiple key neural crest specifiers | Q38392710 |
| | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | Q38439221 |
| | Molecular basis of contact inhibition of locomotion | Q38575876 |
| | CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions | Q38704694 |
| P921 | main subject | Kabuki syndrome | Q1538227 |
| P304 | page(s) | e23404 | |
| P577 | publication date | 2020-12-22 | |
| P1433 | published in | Genesis | Q5532784 |
| P1476 | title | Using Xenopus to analyze neurocristopathies like Kabuki syndrome | |