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Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome
Published 2019-01-01“…Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). …”
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443
The inheritance pattern for the dwarf phenotype in hybrids from crosses among sunflower lines differing in alleles of the <i>Rht1</i> locus
Published 2024-10-01Subjects: Get full text
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444
Effect on Multipotency and Phenotypic Transition of Unrestricted Somatic Stem Cells from Human Umbilical Cord Blood after Treatment with Epigenetic Agents
Published 2016-01-01“…Here we document that USSCs drastically change their phenotype after treatment by a new elaborated cultivation protocol which utilizes the DNA hypomethylating compound 5′-aza-2-deoxycytidine (5-Aza-CdR) and the histone deacetylase inhibitor trichostatin A (TSA). …”
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445
MRI-based deep learning radiomics to differentiate dual-phenotype hepatocellular carcinoma from HCC and intrahepatic cholangiocarcinoma: a multicenter study
Published 2025-01-01“…Abstract Objectives To develop and validate radiomics and deep learning models based on contrast-enhanced MRI (CE-MRI) for differentiating dual-phenotype hepatocellular carcinoma (DPHCC) from HCC and intrahepatic cholangiocarcinoma (ICC). …”
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446
Cancer stem cells and tumor-associated macrophages as mates in tumor progression: mechanisms of crosstalk and advanced bioinformatic tools to dissect their phenotypes and interaction
Published 2025-02-01“…Among immune cells, macrophages exhibit a more plastic and adaptable phenotype due to their different subpopulations, which are characterized by both immunosuppressive and inflammatory phenotypes. …”
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447
Phenotypic and genotypic characterization of clinical carbapenem-resistant Acinetobacter species harboring the metallo-beta-lactamases IMP-8 or NDM-1 in China
Published 2025-02-01“…This study revisited five MBL-carrying Acinetobacter spp. strains isolated in 2010, characterizing their phenotypic and genotypic features. This retrospective analysis serves as a form of “bacterial archaeology,” providing evidence of the evolutionary changes in genetic elements conferring antibiotic resistance.…”
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Hippocampal CA1 Pyramidal Neurons of Mecp2 Mutant Mice Show a Dendritic Spine Phenotype Only in the Presymptomatic Stage
Published 2012-01-01“…These results raise caution regarding the use of dendritic spine density in hippocampal neurons as a phenotypic endpoint for the evaluation of therapeutic interventions in symptomatic Mecp2-deficient mice. …”
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451
Neoantigen-specific stimulation of tumor-infiltrating lymphocytes enables effective TCR isolation and expansion while preserving stem-like memory phenotypes
Published 2024-05-01“…NeoExpand led to improved phenotypes and functions of neoantigen-reactive TILs. …”
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452
Migration, Distribution, and Safety Evaluation of Specific Phenotypic and Functional Mouse Spleen-Derived Invariant Natural Killer T2 Cells after Adoptive Infusion
Published 2021-01-01“…Herein, the migration distribution and safety of specific phenotypic and functionally identified spleen-derived invariant natural killer T2 (iNKT2) cells after adoptive infusion in mice were studied. …”
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453
Loss of MTAP expression is strongly linked to homozygous 9p21 deletion, unfavorable tumor phenotype, and noninflamed microenvironment in urothelial bladder cancer
Published 2025-01-01“…Data were compared with data on tumor phenotype, patient survival, intratumoral lymphocyte subsets, and PD‐L1 expression. …”
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Inhibition of TFF3 synergizes with c-MET inhibitors to decrease the CSC-like phenotype and metastatic burden in ER+HER2+ mammary carcinoma
Published 2025-02-01“…Elevated expression of TFF3 promoted the oncogenicity of ER+HER2+ MC cells, including enhanced cell proliferation, survival, anchorage-independent growth, 3D growth, cancer stem cell-like (CSC-like) phenotype, migration, invasion, and xenograft growth. …”
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456
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
Published 2024-03-01“…CONCLUSION: The clinical data obtained in the examined family correspond with the phenotype in previously described cases. In general, the study widened the mutation spectrum of the gene, allowing to carry out medical genetic counseling and to answer the questions about the hearing impairment prognosis for future generations.…”
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Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy
Published 2016-01-01“…Both types of HCM-CMs displayed pathological phenotype of HCM but, more importantly, we found differences between CMs carrying either MYBPC3-Gln1061X or TPM1-Asp175Asn gene mutation in their cellular size, Ca2+ handling, and electrophysiological properties, as well as their gene expression profiles. …”
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p38/JNK Is Required for the Proliferation and Phenotype Changes of Vascular Smooth Muscle Cells Induced by L3MBTL4 in Essential Hypertension
Published 2020-01-01“…Our findings pinpointed that p38 and JNK were required for the proliferation and phenotype changes of VSMCs induced by L3MBTL4 in hypertension. …”
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V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
Published 2018-01-01“…The unique clinical phenotype of this mutation may guide clinical workup and treatment for patients with painful and painless neuropathies.…”
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