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  1. 195181
    “…BACKGROUND: Familial distal renal tubular acidosis (dRTA) associated with mutations of solute carrier family 4 membrane − 1 (SLC4A1) gene could co-exist with red cell membrane abnormality, Southeast Asian ovalocytosis (SAO). …”
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    A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease
  2. 195182
    “…Dystrophy was more severe in FTLD and AD than controls, and more severe in white than grey matter, but this also varied regionally and was particularly extensive in FTLD due to progranulin (GRN) mutations. Presence of rod-shaped and hypertrophic microglia also varied by FTLD subtype. …”
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    Microglial burden, activation and dystrophy patterns in frontotemporal lobar degeneration
  3. 195183
    “…The voltage-gated sodium channel region of mosquitoes was also screened for the presence of knockdown resistance mutations (kdr west and east) by sequencing method. …”
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    Investigating the molecular basis of multiple insecticide resistance in a major malaria vector Anopheles funestus (sensu stricto) from Akaka-Remo, Ogun State, Nigeria
  4. 195184
    “…We also found that p70S6K1 activation by IGF-1R inhibition is independent of K-Ras and PIK3CA mutations that frequently occur in colon cancer. Besides the increased p70S6K1 phosphorylation, the phosphorylation of mitogen-activated protein kinase kinase 1 and 2 (MEK1/2) was elevated in the cells treated with BMS-754807. …”
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    IGF-1R inhibition induces MEK phosphorylation to promote survival in colon carcinomas
  5. 195185
    “…We extracted fifteen kinds of classification features as input and different from the traditional genotyping problem, here the structure of variant may fall into types of normal homozygote, homozygous variant, heterozygous variant without CNV, heterozygous variant with a CNV on the mutated haplotype, and heterozygous variant with a CNV on the wild haplotype. …”
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    A machine learning framework for genotyping the structural variations with copy number variant
  6. 195186
    “…BACKGROUND: Several genetic alterations, including point mutations and copy number variations in NLGN genes, have been associated with psychiatric disorders, such as autism spectrum disorder (ASD) and X-linked mental retardation (XLMR). …”
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    Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms
  7. 195187
    “…The adjacent position relationships between tandem repeats, insertions/deletions and single nucleotide polymorphisms support the evolutionary importance of tandem repeats in causing plastome mutations in Avena. Phylogenomic analyses, based on the complete plastome sequences and the LSC intermolecular recombination sequences, support the monophyly of Avena with two clades in the genus. …”
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    Comparative chloroplast genome analyses of Avena: insights into evolutionary dynamics and phylogeny
  8. 195188
    “…In addition, our work on BRAF-, p53-, and WNT-pathway mutations provides new insights into their cooperation and for the design of targeted therapies.…”
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    BRAF(V600E) drives dedifferentiation in small intestinal and colonic organoids and cooperates with mutant p53 and Apc loss in transformation
  9. 195189
    “…Children or adults with VHL disease have one of > 300 known germline mutations of the VHL gene located on chromosome 3. …”
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    Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment
  10. 195190
    “…METHODS: Using the preclinical Mlh1(−/−) tumor model, we performed a side-by side comparison of two autologous cell-line derived tumor lysates (namely 328 and A7450 T1 M1) harboring different tumor mutational burden (TMB; i.e. ultra-high: 328; moderate-high: A7450 T1 M1). …”
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    In vivo vaccination with cell line-derived whole tumor lysates: neoantigen quality, not quantity matters
  11. 195191
    “…The increased understanding of DLBCL biology has shed light on the clinical evolution of this pathology, leading to the discovery of prognostic factors based on gene expression data, genomic rearrangements and mutational subgroups. Nevertheless, additional efforts are needed in order to enable survival predictions at the patient level. …”
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    Improved personalized survival prediction of patients with diffuse large B-cell Lymphoma using gene expression profiling
  12. 195192
    “…Patients with KRAS, NRAS, BRAF, or PI3KCA mutations were eligible for the expansion cohort. RESULTS: In the dose-escalation (n = 49) and expansion (n = 15) cohorts, the most common treatment-emergent adverse events included diarrhea (59.4%), nausea, acneiform rash, and fatigue (51.6% each). …”
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    Phase Ib Trial of the PI3K Inhibitor Copanlisib Combined with the Allosteric MEK Inhibitor Refametinib in Patients with Advanced Cancer
  13. 195193
    “…Gene test revealed two mutations of cystic fibrosis transmembrane conductance regulator (CFTR). …”
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    “Summer hypokalemia” as an initial presentation of cystic fibrosis in a morbidly obese African American adult: case report
  14. 195194
    por Zhang, Ping, Zhang, Mingzhi
    Publicado 2020
    “…Genetic studies have also shown that some recurrent mutations in genes involved in the epigenetic machinery, including TET2, IDH2-R172, DNMT3A, RHOA, CD28, IDH2, TET2, MLL2, KMT2A, KDM6A, CREBBP, and EP300, have been observed in cases of PTCL. …”
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    Epigenetic alterations and advancement of treatment in peripheral T-cell lymphoma
  15. 195195
    “…Subgroup analyzes according to the type of treatments received, and in BRAF-mutated patients were pre-planned. All multivariable models included BMI, age, gender, American Joint Committee on Cancer stage, performance status, lactate dehydrogenase and treatment sequencing strategy as covariates. …”
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    Body mass index (BMI) and outcome of metastatic melanoma patients receiving targeted therapy and immunotherapy: a multicenter international retrospective study
  16. 195196
    “…Here we assessed whether inhibition of the ubiquitin proteasome system prevented degradation of dysferlin in immortalized myoblasts from a patients with two missense mutations in exon 44. METHODS: To assess proteasome inhibition we treated dysferlin deficient myotubes with EB1089, a vitamin D3 analog, oprozomib and ixazomib. …”
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    Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes
  17. 195197
    por Kang, Jongkyun, Shen, Jie
    Publicado 2020
    “…BACKGROUND: Mutations in the PSEN1 and PSEN2 genes are the major cause of familial Alzheimer’s disease. …”
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    Cell-autonomous role of Presenilin in age-dependent survival of cortical interneurons
  18. 195198
    “…Here, we demonstrate in neuroblastoma SH-SY5Y cells expressing either APP Swedish mutations, or the β-secretase-derived APP-CTF fragment (C99) combined with β- and γ-secretase inhibition, that APP-CTFs accumulation independently of Aβ triggers excessive mitochondrial morphology alteration (i.e., size alteration and cristae disorganization) associated with enhanced mitochondrial reactive oxygen species production. …”
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    Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer’s disease models and human brains
  19. 195199
    “…We also investigated the accessibility of cysteine mutations designed to detect exposure of histone surfaces internal to the nucleosome thought to be accessible in actively transcribed genes: H3 102, is at the H2A–H2B dimer/H3–H4 tetramer interface, and H3 A110C, resides at the H3–H3 interface. …”
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    Global histone protein surface accessibility in yeast indicates a uniformly loosely packed genome with canonical nucleosomes
  20. 195200
    “…BACKGROUND: The ability of CRISPR/Cas9 to mutate any desired genomic locus is being increasingly explored in the emerging area of cancer immunotherapy. …”
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    CRISPR/Cas9-mediated knockout of clinically relevant alloantigenes in human primary T cells
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