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Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/1096-8628(20000918)94:3<254::aid-ajmg13>3.0.co;2-7openalex-snapshot
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
inferredcites →https://doi.org/10.1002/ajmg.1203openalex-snapshot
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation
inferredcites →https://doi.org/10.1002/ajmg.1320570415openalex-snapshot
Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation
inferredcites →https://doi.org/10.1002/ajmg.a.30775openalex-snapshot
The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case
inferredcites →https://doi.org/10.1002/ajmg.a.31900openalex-snapshot
Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation
inferredcites →https://doi.org/10.1002/ajmg.c.30184openalex-snapshot
Mouse models of Wolf–Hirschhorn syndrome
inferredcites →https://doi.org/10.1002/ajmg.c.30187openalex-snapshot
Update on the clinical features and natural history of Wolf–Hirschhorn (4p‐) syndrome: Experience with 87 patients and recommendations for routine health supervision
inferredcites →https://doi.org/10.1002/ajmg.c.30188openalex-snapshot
Pathogenic significance of deletions distal to the currently described Wolf–Hirschhorn syndrome critical regions on 4p16.3
inferredcites →https://doi.org/10.1002/ajmg.c.30190openalex-snapshot
On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review
inferredcites →https://doi.org/10.1002/bies.201000055openalex-snapshot
Replication stress, a source of epigenetic aberrations in cancer?
inferredcites →https://doi.org/10.1002/humu.21368openalex-snapshot
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions
inferredcites →https://doi.org/10.1006/geno.1999.5881openalex-snapshot
LETM1, A Novel Gene Encoding a Putative EF-Hand Ca2+-Binding Protein, Flanks the Wolf–Hirschhorn Syndrome (WHS) Critical Region and Is Deleted in Most WHS Patients
inferredcites →https://doi.org/10.1007/bf00279119openalex-snapshot
Defizienz an den kurzen Armen eines Chromosomes Nr. 4
inferredcites →https://doi.org/10.1007/bf00279124openalex-snapshot
Deletion of short arms of chromosome 4?5 in a child with defects of midline fusion
inferredcites →https://doi.org/10.1016/0092-8674(86)90483-6openalex-snapshot
Normal stoichiometry of histone dimer sets is necessary for high fidelity of mitotic chromosome transmission
inferredcites →https://doi.org/10.1016/j.biochi.2005.03.012openalex-snapshot
Expression of metazoan replication-dependent histone genes
inferredcites →https://doi.org/10.1016/j.cell.2007.01.030openalex-snapshot
Chromatin Challenges during DNA Replication and Repair
inferredcites →https://doi.org/10.1016/j.cub.2006.01.018openalex-snapshot
The Human RNA Surveillance Factor UPF1 Is Required for S Phase Progression and Genome Stability
inferredcites →https://doi.org/10.1016/j.dnarep.2008.03.018openalex-snapshot
The role of the DNA damage response pathways in brain development and microcephaly: Insight from human disorders
inferredcites →https://doi.org/10.1016/j.dnarep.2009.09.001openalex-snapshot
Mouse models for ATR deficiency
inferredcites →https://doi.org/10.1016/j.molcel.2004.12.018openalex-snapshot
Human Asf1 Regulates the Flow of S Phase Histones during Replicational Stress
inferredcites →https://doi.org/10.1016/j.molcel.2007.04.011openalex-snapshot
NELF Interacts with CBC and Participates in 3′ End Processing of Replication-Dependent Histone mRNAs
inferredcites →https://doi.org/10.1016/j.molcel.2010.01.033openalex-snapshot
Replication Stress Interferes with Histone Recycling and Predeposition Marking of New Histones
inferredcites →https://doi.org/10.1016/j.semcdb.2009.09.018openalex-snapshot
Restoring chromatin after replication: How new and old histone marks come together
inferredcites →https://doi.org/10.1016/j.ydbio.2005.07.023openalex-snapshot
The stem-loop binding protein regulates translation of histone mRNA during mammalian oogenesis
inferredcites →https://doi.org/10.1016/j.yexcr.2009.02.013openalex-snapshot
Cellular dynamics of the negative transcription elongation factor NELF
inferredcites →https://doi.org/10.1016/s0065-230x(01)80016-6openalex-snapshot
Topoisomerase I-mediated DNA damage
inferredcites →https://doi.org/10.1016/s1097-2765(03)00037-6openalex-snapshot
Defective S Phase Chromatin Assembly Causes DNA Damage, Activation of the S Phase Checkpoint, and S Phase Arrest
inferredcites →https://doi.org/10.1017/s1355838200000819openalex-snapshot
Dual role for the RNA-binding domain of Xenopus laevis SLBP1 in histone pre-mRNA processing
inferredcites →https://doi.org/10.1021/bi00417a052openalex-snapshot
Kinetics of accumulation and depletion of soluble newly synthesized histone in the reciprocal regulation of histone and DNA synthesis
inferredcites →https://doi.org/10.1038/ejhg.2008.168openalex-snapshot
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
inferredcites →https://doi.org/10.1038/nature08086openalex-snapshot
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome
inferredcites →https://doi.org/10.1038/ng.776openalex-snapshot
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
inferredcites →https://doi.org/10.1038/nrg2438openalex-snapshot
Metabolism and regulation of canonical histone mRNAs: life without a poly(A) tail
inferredcites →https://doi.org/10.1038/nrg2752openalex-snapshot
Chromatin structure and the inheritance of epigenetic information
inferredcites →https://doi.org/10.1038/nsmb.1911openalex-snapshot
The program for processing newly synthesized histones H3.1 and H4
inferredcites →https://doi.org/10.1038/nsmb972openalex-snapshot
Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1
inferredcites →https://doi.org/10.1042/bst0330471openalex-snapshot
Expression of an RNAi-resistant SLBP restores proper S-phase progression
inferredcites →https://doi.org/10.1074/jbc.m109.034462openalex-snapshot
The Target of the NSD Family of Histone Lysine Methyltransferases Depends on the Nature of the Substrate
inferredcites →https://doi.org/10.1074/jbc.m109.084285openalex-snapshot
Human Negative Elongation Factor Activates Transcription and Regulates Alternative Transcription Initiation
inferredcites →https://doi.org/10.1074/jbc.m403607200openalex-snapshot
The LETM1/YOL027 Gene Family Encodes a Factor of the Mitochondrial K+ Homeostasis with a Potential Role in the Wolf-Hirschhorn Syndrome
inferredcites →https://doi.org/10.1086/367925openalex-snapshot
Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2
inferredcites →https://doi.org/10.1093/hmg/10.2.91openalex-snapshot
Mouse models for the Wolf-Hirschhorn deletion syndrome
inferredcites →https://doi.org/10.1093/hmg/6.2.317openalex-snapshot
A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region
inferredcites →https://doi.org/10.1093/hmg/ddm297openalex-snapshot
LETM1, deleted in Wolf Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability
inferredcites →https://doi.org/10.1093/hmg/ddp563openalex-snapshot
A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome
inferredcites →https://doi.org/10.1101/gad.1643208openalex-snapshot
NELF-mediated stalling of Pol II can enhance gene expression by blocking promoter-proximal nucleosome assembly
inferredcites →https://doi.org/10.1126/science.1148992openalex-snapshot
Regulation of Replication Fork Progression Through Histone Supply and Demand
inferredcites →https://doi.org/10.1128/mcb.02130-07openalex-snapshot
Multiple Myeloma-Related WHSC1/MMSET Isoform RE-IIBP Is a Histone Methyltransferase with Transcriptional Repression Activity
inferredcites →https://doi.org/10.1128/mcb.23.5.1590-1601.2003openalex-snapshot
Phosphorylation of Stem-Loop Binding Protein (SLBP) on Two Threonines Triggers Degradation of SLBP, the Sole Cell Cycle-Regulated Factor Required for Regulation of Histone mRNA Processing, at the End of S Phase
inferredcites →https://doi.org/10.1128/mcb.25.16.6879-6888.2005openalex-snapshot
Translation Termination Is Involved in Histone mRNA Degradation when DNA Replication Is Inhibited
inferredcites →https://doi.org/10.1128/mcb.25.4.1526-1536.2005openalex-snapshot
Partial Depletion of Histone H4 Increases Homologous Recombination-Mediated Genetic Instability
inferredcites →https://doi.org/10.1136/jmg.2003.016865openalex-snapshot
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
inferredcites →https://doi.org/10.1136/jmg.2007.052910openalex-snapshot
Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
inferredcites →https://doi.org/10.1182/blood-2004-09-3704openalex-snapshot
Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients
inferredcites →https://doi.org/10.1182/blood-2007-06-092122openalex-snapshot
The MMSET protein is a histone methyltransferase with characteristics of a transcriptional corepressor
inferredcites →https://doi.org/10.1242/dmm.003491openalex-snapshot
Keeping it simple: what mouse models of Wolf-Hirschhorn syndrome can tell us about large chromosomal deletions
inferredcites →https://doi.org/10.1242/jcs.01523openalex-snapshot
The human histone gene expression regulator HBP/SLBP is required for histone and DNA synthesis, cell cycle progression and cell proliferation in mitotic cells
inferredcites →https://doi.org/10.1261/rna.1205409openalex-snapshot
Knockdown of SLBP results in nuclear retention of histone mRNA
inferredcites →https://doi.org/10.3324/haematol.13426openalex-snapshot
MMSET deregulation affects cell cycle progression and adhesion regulons in t(4;14) myeloma plasma cells
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.5281/zenodo.888130openalex-extracted
The Negative Elongation Factor Complex – A Poorly Understood Multi-Faceted Transcript-Processing Complex
inferred← citeshttps://doi.org/10.1002/1878-0261.12619openalex-snapshot
The noncoding function of NELFA mRNA promotes the development of oesophageal squamous cell carcinoma by regulating the Rad17‐RFC2‐5 complex
inferred← citeshttps://doi.org/10.1002/9780470015902.a0024976openalex-snapshot
Causes and Consequences of Structural Genomic Alterations in the Human Genome
inferred← citeshttps://doi.org/10.1002/9780470893159.ch19openalex-snapshot
Deletion 4p: Wolf‐Hirschhorn Syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.40512openalex-snapshot
Small 4p16.3 deletions: Three additional patients and review of the literature
inferred← citeshttps://doi.org/10.1002/ajmg.c.31449openalex-snapshot
Wolf–Hirschhorn syndrome: A review and update
inferred← citeshttps://doi.org/10.1002/bies.201200179openalex-snapshot
Pausing for thought: Disrupting the early transcription elongation checkpoint leads to developmental defects and tumourigenesis
inferred← citeshttps://doi.org/10.1002/path.4721openalex-snapshot
p57Kip2 knock‐in mouse reveals CDK ‐independent contribution in the development of Beckwith–Wiedemann syndrome
inferred← citeshttps://doi.org/10.1002/path.4828openalex-snapshot
The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery
inferred← citeshttps://doi.org/10.1007/s10803-022-05853-zopenalex-snapshot
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
inferred← citeshttps://doi.org/10.1007/s13577-025-01292-xopenalex-snapshot
Generation of human induced pluripotent stem cell lines derived from Wolf–Hirschhorn syndrome patients with chromosomal 4p deletion
inferred← citeshttps://doi.org/10.1016/j.celrep.2017.04.069openalex-snapshot
Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development
inferred← citeshttps://doi.org/10.1016/j.dnarep.2013.04.016openalex-snapshot
Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: Two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis
inferred← citeshttps://doi.org/10.1016/j.molcel.2016.04.017openalex-snapshot
CRL4 WDR23 -Mediated SLBP Ubiquitylation Ensures Histone Supply during DNA Replication
inferred← citeshttps://doi.org/10.1016/j.molcel.2018.08.043openalex-snapshot
POLE3-POLE4 Is a Histone H3-H4 Chaperone that Maintains Chromatin Integrity during DNA Replication
inferred← citeshttps://doi.org/10.1016/j.pediatrneurol.2020.06.011openalex-snapshot
Syndromic Autism Revisited: Review of the Literature and Lessons Learned
inferred← citeshttps://doi.org/10.1016/j.semcdb.2014.04.035openalex-snapshot
The causes of replication stress and their consequences on genome stability and cell fate
inferred← citeshttps://doi.org/10.1016/j.tjog.2020.03.016openalex-snapshot
Wolf–Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly
inferred← citeshttps://doi.org/10.1016/j.yjmcc.2020.04.007openalex-snapshot
Acute NelfA knockdown restricts compensatory gene expression and precipitates ventricular dysfunction during cardiac hypertrophy
inferred← citeshttps://doi.org/10.1038/ejhg.2013.192openalex-snapshot
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome
inferred← citeshttps://doi.org/10.1038/ncb2897openalex-snapshot
Causes and consequences of replication stress
inferred← citeshttps://doi.org/10.1038/s41467-018-03539-8openalex-snapshot
Chromatin conformation regulates the coordination between DNA replication and transcription
inferred← citeshttps://doi.org/10.1038/s41598-021-85108-6openalex-snapshot
A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions
inferred← citeshttps://doi.org/10.1038/srep25954openalex-snapshot
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens
inferred← citeshttps://doi.org/10.1080/15384101.2015.1121323openalex-snapshot
MMSET is dynamically regulated during cell-cycle progression and promotes normal DNA replication
inferred← citeshttps://doi.org/10.1080/15513815.2017.1293201openalex-snapshot
Hepatic Malignancy in an Infant with Wolf–Hirschhorn Syndrome
inferred← citeshttps://doi.org/10.1083/jcb.201305017openalex-snapshot
New histone supply regulates replication fork speed and PCNA unloading
inferred← citeshttps://doi.org/10.1097/md9.0000000000000254openalex-snapshot
Wolf-Hirschhorn syndrome with intrauterine growth restriction in a fetus: A case report
inferred← citeshttps://doi.org/10.1101/2025.10.24.684384openalex-snapshot
The Whsc2/NelfA -dependent transcription complex is required for postnatal cardiac development and heart function
inferred← citeshttps://doi.org/10.1101/cshperspect.a012773openalex-snapshot
Diseases Associated with Defective Responses to DNA Damage
inferred← citeshttps://doi.org/10.1136/jmedgenet-2015-103626openalex-snapshot
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
inferred← citeshttps://doi.org/10.1155/2018/5436187openalex-snapshot
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome
inferred← citeshttps://doi.org/10.1159/000501923openalex-snapshot
Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins
inferred← citeshttps://doi.org/10.1186/1471-2350-15-82openalex-snapshot
Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)
inferred← citeshttps://doi.org/10.1186/s13039-021-00531-8openalex-snapshot
Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene
inferred← citeshttps://doi.org/10.1242/dmm.014464openalex-snapshot
LETM1 haploinsufficiency causes mitochondrial defects in Wolf-Hirschhorn syndrome patient cells: implications for dissecting underlying pathomechanisms in this condition
inferred← citeshttps://doi.org/10.18413/2658-6533-2019-5-4-0-4openalex-snapshot
Cytogenetic analysis in the era of highresolution molecular-cytogenetic methods: the potential of «reverse» karyotyping
inferred← citeshttps://doi.org/10.33588/rn.5702.2013175openalex-snapshot
Síndrome de Wolf-Hirschhorn. Serie de 27 pacientes: características epidemiológicas y clínicas. Situación actual de los pacientes y opinión de sus cuidadores respecto al proceso diagnóstico
inferred← citeshttps://doi.org/10.3389/fphys.2019.00431openalex-snapshot
Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis
inferred← citeshttps://doi.org/10.3389/fphys.2019.00817openalex-snapshot
The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf–Hirschhorn Syndrome
inferred← citeshttps://doi.org/10.3390/genes16070820openalex-snapshot
Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf–Hirschhorn Syndrome
inferred← citeshttps://doi.org/10.3390/genes8020049openalex-snapshot
Regulation of Replication Fork Advance and Stability by Nucleosome Assembly
inferred← citeshttps://doi.org/10.47749/t/unicamp.2017.1062812openalex-snapshot
Caracterização de uma amostra de indivíduos com deficiência intelectual de origem indeterminada
inferred← citeshttps://doi.org/10.70675/895a5201z1656z4103zbf00zdf282ab374f9openalex-snapshot
Le rôle de l'oncoprotéine INT6 dans la maintenance des télomères
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