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Times Cited: 9
Times Cited: 9
Times Cited
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Similarity
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.
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Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
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Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
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Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
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The POP1 gene encodes a protein component common to the RNase MRP and RNase P ribonucleoproteins.
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Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.
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Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
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Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
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Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
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A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
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SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
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A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
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Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
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11
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
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11
Novel pathogenic ACAN variants in non-syndromic short stature patients.
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Histone H3.3 is required to maintain replication fork progression after UV damage.
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Functional characterization of the 19q12 amplicon in grade III breast cancers.
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11
PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining.
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11
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
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Functional Classification and Experimental Dissection of Long Noncoding RNAs.
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11
H3.3/H2A.Z double variant-containing nucleosomes mark 'nucleosome-free regions' of active promoters and other regulatory regions.
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11
The replication-independent histone H3-H4 chaperones HIR, ASF1, and RTT106 co-operate to maintain promoter fidelity.
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tRNA processing defects induce replication stress and Chk2-dependent disruption of piRNA transcription.
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The RAG1 V(D)J recombinase/ubiquitin ligase promotes ubiquitylation of acetylated, phosphorylated histone 3.3.
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Dynamic distribution of the replacement histone variant H3.3 in the mouse oocyte and preimplantation embryos.
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Histone H3G34R mutation causes replication stress, homologous recombination defects and genomic instability in S. pombe.
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11
Giant cell tumor of bone arising in long bones possibly originates from the metaphyseal region.
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11
Chromatin- and transcription-related factors repress transcription from within coding regions throughout the Saccharomyces cerevisiae genome.
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Sp100A promotes chromatin decondensation at a cytomegalovirus-promoter-regulated transcription site.
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Recurrent and functional regulatory mutations in breast cancer.
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The histone variant H3.3 G34W substitution in giant cell tumor of the bone link chromatin and RNA processing.
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Chromosome-wide nucleosome replacement and H3.3 incorporation during mammalian meiotic sex chromosome inactivation.
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11
The histone methyltransferases Trithorax and Ash1 prevent transcriptional silencing by Polycomb group proteins.
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Wnt activated β-catenin and YAP proteins enhance the expression of non-coding RNA component of RNase MRP in colon cancer cells.
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Human RNase P ribonucleoprotein is required for formation of initiation complexes of RNA polymerase III.
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The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3.
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11
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.