Trehalose catalytic shift inherently enhances phenotypic heterogeneity and multidrug resistance in Mycobacterium tuberculosis. [PDF]
Lee JJ +15 more
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Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation. [PDF]
Liu B, Gu W, Min L, Wei J, Wang X.
europepmc +1 more source
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The Origins of Phenotypic Heterogeneity in Cancer
Cancer Research, 2022Abstract Heterogeneity is a pervasive feature of cancer, and understanding the sources and regulatory mechanisms underlying heterogeneity could provide key insights to help improve the diagnosis and treatment of cancer. In this review, we discuss the origin of heterogeneity in the phenotype of individual cancer cells. Genotype–phenotype (
Guido Lenz +5 more
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Phenotypic Heterogeneity in Huntington Disease
Journal of Neurogenetics, 1984Two Huntington disease (HD) pedigrees are presented which differ according to mean and distribution of the age at onset, the effect of paternal transmission on the age at onset, presence of manic-depressive symptoms, and type of presenting symptoms. Together with previous reports, the data suggest clinical heterogeneity between HD kindreds which may ...
M L Franz +2 more
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Phenotypically heterogeneous populations in spatially heterogeneous environments
Physical Review E, 2014The spatial expansion of a population in a nonuniform environment may benefit from phenotypic heterogeneity with interconverting subpopulations using different survival strategies. We analyze the crossing of an antibiotic-containing environment by a bacterial population consisting of rapidly growing normal cells and slow-growing, but antibiotic ...
Patra, P., Klumpp, S.
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Interfamilial phenotypic heterogeneity in SMARD1
Neuromuscular Disorders, 2009Spinal muscular atrophy with respiratory distress (SMARD1: mu-binding protein 2 gene mutation) is characterised by low birth weight, progressive distal limb weakness, diaphragmatic paralysis and subsequent respiratory failure manifesting before 13 months of age.
S, Joseph +7 more
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Phenotypic Heterogeneity of Lymphoma of the Skin
The Journal of Dermatology, 1989AbstractWe studied surface markers present in 56 cases of lymphoma of the skin by immunohistochemical staining, using the ABC (avidin‐biotin‐peroxidase complex) and PAP (peroxidase‐antiperoxidase complex) methods. Of these cases, 49 were T‐cell lymphoma and 7 were B‐cell lymphoma.
T, Nagatani +6 more
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Immune phenotype heterogeneity in AML
Scandinavian Journal of Haematology, 1985Blood cells from 46 patients with acute myeloid leukaemia were studied for expression of various surface markers, defined by a panel of 12 monoclonal antibodies and the expression of Fcγ receptors. Corresponding studies were done on normal bone marrow cells.
A, Ost +7 more
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The Phenotypic Heterogeneity of Severe Hemophilia
Seminars in Thrombosis and Hemostasis, 2008It has been long recognized that 10 to 15% of patients with "phenotypically characterized" severe hemophilia (< 1% clotting factor activity) have relatively mild disease clinically. Not all these patients have frequent spontaneous bleeding, and even among those who bleed, the extent of joint damage tends to vary considerably.
Giridhara Rao, Jayandharan +1 more
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Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia
Molecular Genetics and Metabolism, 2001We summarize the diagnosis, outcome, and molecular studies of five Mediterranean patients with citrullinemia: four neonatal classical forms and one subacute form, who also suffers from Down syndrome and presented with severe hepatic encephalopathy at age 7.
Vilaseca MA +9 more
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