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  1. 196441
    “…Array comparative genomic hybridization (aCGH) for analyzing copy number variations and Sanger sequencing for ALK point mutations were done. RESULTS: In 12 patients (two patients under 18 months), segmental chromosomal aberrations (SCA) were found and numerical chromosomal aberrations (NCA) were found in 16 patients (14 patients under 18 months). …”
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    Segmental chromosomal aberrations as the poor prognostic factor in children over 18 months with stage 3 neuroblastoma without MYCN amplification
  2. 196442
    “…Our biophysical knowledge of ion-channel structures and function is just emerging, and it is currently not well understood which amino acid residues cause disease when mutated. We sought to systematically identify biological properties associated with variant pathogenicity across all major voltage and ligand-gated ion-channel families. …”
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    Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
  3. 196443
    “…METHODS: Using data from The Cancer Genome Atlas (TCGA), this research evaluated the expression, copy number variations, and frequency of somatic mutations of 21 genes in the ATF/CREB family in HCC. …”
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    Exploring Prognosis, Tumor Microenvironment and Tumor Immune Infiltration in Hepatocellular Carcinoma Based on ATF/CREB Transcription Factor Family Gene-Related Model
  4. 196444
    “…As Pink1 and other PD-associated genes are expressed in IECs, we hypothesize that PD-associated gene mutations directly affect the epithelium and impact early PD pathophysiology. …”
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    A24 INVESTIGATING THE IMPACT OF PARKINSON’S DISEASE-ASSOCIATED GENES ON INTESTINAL HOMEOSTASIS
  5. 196445
    “…Compared to private mutations (found only in a single family or a small population) of MAST4 in the gnomAD non-neuro subset, all de novo variants were predicted to be damaging or probably damaging through different bioinformatic analyses. …”
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    De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association
  6. 196446
    “…Advanced wheat mutant lines, which were brought up to the seventh generation with salt stress tolerance by following in vitro and in vivo environments constructed by mutated populations, were evaluated using conventional techniques [measurement of antioxidant enzyme activities (SOD, CAT, and POX), total chlorophyll, TBARS, and proline contents; measurement of the concentration of Na(+) and K(+) ions; and evaluation of gene expression by qPCR (TaHKT2;1, TaHKT1;5, TaSOS1, TaNa(+)/H(+) vacuolar antiporter, TaV-PPase, TaV-ATPase, and TaP5CS)] and Raman spectroscopy. …”
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    Differentiation of advanced generation mutant wheat lines: Conventional techniques versus Raman spectroscopy
  7. 196447
    “…The most resource-intensive ONT-assembly approach (SUP basecalling, with or without Medaka polishing) performed best, yielding reliable capsule (K) type calls for all strains (100 % exact or best matching locus), reliable multi-locus sequence type (MLST) assignment (98.3 % exact match or single-locus variants), and good detection of acquired AMR genes and mutations (88–100 % correct identification across the various drug classes). …”
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    Nanopore-only assemblies for genomic surveillance of the global priority drug-resistant pathogen, Klebsiella pneumoniae
  8. 196448
    “…MATERIALS AND METHODS: A mutated mouse CII, expressing glutamic acid instead of aspartic acid at position 266, was expressed in a transgenic mouse called MMC (mutated mouse collagen) that has been described earlier [14]. …”
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    T cells that are naturally tolerant to cartilage-derived type II collagen are involved in the development of collagen-induced arthritis
  9. 196449
    “…Numerous models demonstrated that patients with POLE mutations and low-CN had higher progression free survival (PFS) and overall survival (OS), whereas those with high-CN had lowest values. …”
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    Clinical characteristics and prognostic characterization of endometrial carcinoma: a comparative analysis of molecular typing protocols
  10. 196450
    “…In a cell line-dependent manner, either an accumulation in the G2 / M cell cycle phase or a mitotic catastrophe was observed. Based on mutational and proteome profiling, this study identified drugs targeting the FGF, VGF, PDGF, mTOR, CHEK1, AURKA, or PARP signaling pathways as promising approaches to target YST. …”
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    Targeting CLDN6 in germ cell tumors by an antibody-drug-conjugate and studying therapy resistance of yolk-sac tumors to identify and screen specific therapeutic options
  11. 196451
    “…MLL/AF9 gene fusions and CEBPA, JAK2, NRAS, and FLT3-TKD mutations were found in the patients. Six (75%) of the patients showed a complete response after upfront treatment using chemotherapy + surgery and experienced no recurrence during follow-up. …”
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    De novo myeloid sarcoma mimicking gynecological tumors: a retrospective case series of eight patients
  12. 196452
    “…PURPOSE: The COVID pandemic has evolved as the SARS-2 Coronavirus (CoV-2) mutated into unique variants of concern (VOC). The clinical approach to COVID has evolved as new therapeutics have become available. …”
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    (693) Infection with Covid Variants of Concern in a Lung Transplant Population
  13. 196453
    “…However, the processes underlying LBs generation and its causal triggers are still unknown. ɑ-Synuclein (ɑ-syn, encoded by the SNCA gene) is a major component of LBs, and SNCA missense mutations or duplications/triplications are causal for rare hereditary forms of PD. …”
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    Lewy bodies, iron, inflammation and neuromelanin: pathological aspects underlying Parkinson’s disease
  14. 196454
    “…Moreover, PGC loss was not rescued by injection with human AMBRA1 mRNA mutated in the CUL4-DDB1 binding region, thus suggesting that interaction with this complex is involved in PGC protection from loss. …”
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    Zebrafish ambra1b knockout reveals a novel role for Ambra1 in primordial germ cells survival, sex differentiation and reproduction
  15. 196455
    “…There was no evidence for positive selection among those p104 mutations that resulted in residue changes. Importantly, the data indicate that the p104-based PCR detection assay should be effective across the majority of the range of T. parva, and if the one or two mismatches are shown in future to result in the primers annealing less efficiently, then the assay can be further improved by introduction of degenerate bases to enable amplification of the less frequent South African buffalo–derived variant p104 genes.…”
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    Conservation and variation in the region of the Theileria parva p104 antigen coding gene used for PCR surveillance of the parasite
  16. 196456
    “…RESULTS: The search identified 90 publications describing 378 unique patients (55.8% male). To date 95unique mutations have been reported. The mean age at disease onset was 92.15 months (range 0–720 months), 32 (8.5%) showed an onset of the first signs/symptoms after 18 years old and 96 (25.4%) after 10 years old. …”
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    A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review
  17. 196457
    “…MOVA demonstrated superior predictive accuracy for the pathogenicity of mutations at hotspots of TARDBP and FUS. Moreover, higher accuracy was achieved by combining MOVA with REVEL or CADD. …”
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    Accuracy of a machine learning method based on structural and locational information from AlphaFold2 for predicting the pathogenicity of TARDBP and FUS gene variants in ALS
  18. 196458
    “…To identify the underlying molecular dysfunction, we developed a neuron-specific proximity-labeling proteomics (BioID2) pipeline, combined with patient mutations, to target the 15q13.3 CNV genetic driver OTUD7A. …”
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    Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
  19. 196459
    “…For example, membrane-associated SCUBE3 functions as a coreceptor that promotes signaling in bone morphogenesis. In humans, SCUBE3 mutations are linked to abnormalities in growth and differentiation of both bones and teeth. …”
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    The biology of SCUBE
  20. 196460
    por Panditharatna, Eshini, Marques, Joana G, Wang, Tingjian, Trissal, Maria, Liu, Ilon, Jiang, Li, Beck, Alexander, Groves, Andrew, Dharia, Neekesh, Hoffman, Samantha, Kugener, Guillaume, Shaw, McKenzie, Hack, Olivia, Dempster, Joshua, Lareau, Caleb, Quezada, Michael, Stanton, Ann-Catherine, Wyatt, Meghan, Kalani, Zohra, Goodale, Amy, Vazquez, Francisca, Piccioni, Federica, Doench, John, Root, David, Anastas, Jamie, Jones, Kristen, Conway, Amy, Stopka, Sylwia, Regan, Michael, Liang, Yu, Seo, Hyuk-Soo, Song, Kijun, Bashyal, Puspalata, Mathewson, Nathan, Dhe-Paganon, Sirano, Suvà, Mario L, Carcaboso, Angel M, Lavarino, Cinzia, Mora, Jaume, Nguyen, Quang-De, Ligon, Keith L, Shi, Yang, Agnihotri, Sameer, Agar, Nathalie Y R, Stegmaier, Kimberly, Stiles, Charles D, Monje, Michelle, Golub, Todd R, Qi, Jun, Filbin, Mariella G
    Publicado 2023
    “…These malignancies are driven by heterozygous mutations in genes encoding histone 3 (H3K27M) which create an aberrant epigenetic landscape that keeps glioma cells in an undifferentiated stem-like state. …”
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    DIPG-19. BAF COMPLEX PERTURBATION AS A NOVEL THERAPEUTIC OPPORTUNITY IN H3K27M PEDIATRIC GLIOMA
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