17,284 results match your criteria phenotype heterogeneity

The relationship between motor milestone achievement and childhood motor deficits in children with Attention Deficit Hyperactivity Disorder (ADHD) and children with Developmental Coordination Disorder.

Res Dev Disabil 2021 Apr 9;113:103920. Epub 2021 Apr 9.

University of Surrey, Guildford, Surrey, GU2 7XH, UK. Electronic address:

Background: The prevalence of motor impairment is high in ADHD, but we do not know if this stems from infancy.

Aims: 1) to compare the acquisition of motor milestones across three groups: Typically Developing (TD), Attention Deficit Hyperactivity Disorder (ADHD) and Developmental Coordination Disorder (DCD); 2) to determine the relationship between current motor ability and ADHD characteristics in children with ADHD.

Methods And Procedures: The parents of children aged 8-16 years (ADHD, N = 100; DCD, N = 66; TD, N = 40) completed three online questionnaires: Motor milestone questionnaire; Developmental Coordination Disorder Questionnaire (DCDQ'07) (concurrent motor ability); Conners 3 Parent Rating Scale Long Form (ADHD characteristics). Read More

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How to characterize a strain? Clonal heterogeneity in industrial Saccharomyces influences both phenotypes and heterogeneity in phenotypes.

Yeast 2021 Apr 12. Epub 2021 Apr 12.

Department of Molecular Biotechnology and Microbiology, University of Debrecen, Debrecen, Egyetem tér 1, 4032, Hungary.

Populations of microbes are constantly evolving heterogeneity that selection acts upon, yet heterogeneity is non-trivial to assess methodologically. The necessary practice of isolating single cell colonies and thus, subclone lineages for establishing, transferring, and using a strain results in single-cell bottlenecks with a generally neglected effect on the characteristics of the strain itself. Here, we present evidence that various subclone lineages for industrial yeasts sequenced for recent genomic studies show considerable differences, ranging from loss-of-heterozygosity to aneuploidies. Read More

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Human CD8 T stem cell memory subsets phenotypic and functional characterisation are defined by expression of CD122 or CXCR3.

Eur J Immunol 2021 Apr 12. Epub 2021 Apr 12.

Viral Immunology Systems Program (VISP), The Kirby Institute, University of New South Wales, Sydney, 2052, Australia.

Long-lived T memory stem cells (T ) are key to both naturally-occurring, and vaccine-conferred protection against infection. These cells are characterised by the CD45RA CCR7 CD95 phenotype. Significant heterogeneity within the T population is recognised, but distinguishing surface markers and functional characterisation of potential subsets are lacking. Read More

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Virulence of from different clinical origins in and host models.

Virulence 2021 Dec;12(1):1063-1075

Department of Immunology, Microbiology and Parasitology, Faculty of Medicine and Nursery, University of the Basque Country (UPV/EHU), Bilbao, Spain.

is an emerging multidrug-resistant fungal pathogen responsible for nosocomial outbreaks of invasive candidiasis. Although several studies on the pathogenicity of this species have been reported, the knowledge on virulence is still limited. This study aims to analyze the pathogenicity of , using one aggregating isolate and eleven non-aggregating isolates from different clinical origins (blood, urine and oropharyngeal specimens) in two alternative host models of candidiasis: and . Read More

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December 2021

Computed tomography-based visual assessment of chronic obstructive pulmonary disease: comparison with pulmonary function test and quantitative computed tomography.

J Thorac Dis 2021 Mar;13(3):1495-1506

Department of Internal Medicine and Environmental Health Center, School of Medicine, Kangwon National University, Chuncheon, Republic of Korea.

Background: Chronic obstructive pulmonary disease (COPD) has variable subtypes involving mixture of large airway inflammation, small airway disease, and emphysema. This study evaluated the relationship between visually assessed computed tomography (CT) subtypes and clinical/imaging characteristics.

Methods: In total, 452 participants were enrolled in this study between 2012 and 2017. Read More

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Spatiotemporal Heterogeneity of Chlorophyll Content and Fluorescence Response Within Rice ( L.) Canopies Under Different Nitrogen Treatments.

Front Plant Sci 2021 25;12:645977. Epub 2021 Mar 25.

College of Biosystems Engineering and Food Science, State Key Laboratory of Modern Optical Instrumentation, Zhejiang University, Hangzhou, China.

Accurate acquisition of plant phenotypic information has raised long-standing concerns in support of crop breeding programs. Different methods have been developed for high throughput plant phenotyping, while they mainly focused on the canopy level without considering the spatiotemporal heterogeneity at different canopy layers and growth stages. This study aims to phenotype spatiotemporal heterogeneity of chlorophyll (Chl) content and fluorescence response within rice leaves and canopies. Read More

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The Essential Tremors: Evolving Concepts of a Family of Diseases.

Elan D Louis

Front Neurol 2021 26;12:650601. Epub 2021 Mar 26.

Department of Neurology, University of Texas Southwestern, Dallas, TX, United States.

The past 10 years has seen a remarkable advance in our understanding of the disease traditionally referred to as "essential tremor" (ET). First, the clinical phenotype of ET has been expanded from that of a bland, unidimensional, and monosymptomatic entity to one with a host of heterogeneous features. These features include a broader and more nuanced collection of tremors, non-tremor motor features (e. Read More

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Genetic architecture affecting maize agronomic traits identified by variance heterogeneity association mapping.

Genomics 2021 Apr 8. Epub 2021 Apr 8.

Guangdong Sugarcane Genetic Improvement Engineering Center, Institute of Bioengineering, Guangdong, Academy of Sciences, Guangzhou 510316, China. Electronic address:

Conventional genome-wide association studies (GWAS) focused on the phenotypic mean differences (mGWAS) but often ignored genetic variants influencing differences in the variance between genotypes. In this study, we performed variance heterogeneity GWAS (vGWAS) analysis for 13 previously measured agronomic traits in a maize population. We discovered a total of 129 significant SNPs. Read More

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FGF-MAPK signaling regulates human deep-layer corticogenesis.

Stem Cell Reports 2021 Mar 30. Epub 2021 Mar 30.

The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC 3010, Australia.

Despite heterogeneity across the six layers of the mammalian cortex, all excitatory neurons are generated from a single founder population of neuroepithelial stem cells. However, how these progenitors alter their layer competence over time remains unknown. Here, we used human embryonic stem cell-derived cortical progenitors to examine the role of fibroblast growth factor (FGF) and Notch signaling in influencing cell fate, assessing their impact on progenitor phenotype, cell-cycle kinetics, and layer specificity. Read More

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The predictive value of normal EEGs in dementia due to Alzheimer's disease.

Ann Clin Transl Neurol 2021 Apr 9. Epub 2021 Apr 9.

Department of Neurology, Alzheimer Center Amsterdam, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

Objective: To determine differences in clinical presentation and disease progression between patients with dementia due to AD with visually normal and abnormal EEG recordings. We hypothesized that patients with normal electroencephalographs (EEGs) are a representation of the heterogeneity of AD. We expected this group to have a phenotype with relatively predominant hippocampal atrophy, memory deficits, and a slower disease progression. Read More

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The innate immune response in myocarditis.

Int J Biochem Cell Biol 2021 Apr 5;134:105973. Epub 2021 Apr 5.

School of Cardiovascular Medicine and Sciences, King's College London British Heart Foundation Centre of Excellence, James Black Centre, 125 Coldharbour Lane, London, SE5 9NU, UK. Electronic address:

Acute myocarditis is an inflammatory condition of the heart characterised by cellular injury and the influx of leucocytes, including neutrophils, monocytes, macrophages and lymphocytes. While this response is vital for tissue repair, excessive scar deposition and maladaptive ventricular remodelling can result in a legacy of heart failure. It is increasingly recognised as a clinical phenomenon due, in part, to increased availability of cardiac magnetic resonance imaging in patients presenting with chest pain in the absence of significant coronary artery disease. Read More

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Cerebrotendinous xanthomatosis without neurological involvement.

J Intern Med 2021 Apr 8. Epub 2021 Apr 8.

Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. Neurological symptoms are considered to be a clinical hallmark of untreated adult patients. We describe a 'milder CTX phenotype', without neurological involvement. Read More

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An interplay of resource availability, population size and mutation rate potentiates the evolution of metabolic signaling.

BMC Ecol Evol 2021 Apr 7;21(1):52. Epub 2021 Apr 7.

Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India.

Background: Asexually reproducing populations of single cells evolve through mutation, natural selection, and genetic drift. Environmental conditions in which the evolution takes place define the emergent fitness landscapes. In this work, we used Avida-a digital evolution framework-to uncover a hitherto unexplored interaction between mutation rates, population size, and the relative abundance of metabolizable resources, and its effect on evolutionary outcomes in small populations of digital organisms. Read More

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Genotyping-by-Sequencing of the regional Pacific abalone (Haliotis discus) genomes reveals population structures and patterns of gene flow.

PLoS One 2021 7;16(4):e0247815. Epub 2021 Apr 7.

Genome, Inc, Seoul, Republic of Korea.

Continuous monitoring of the present genetic status is essential to preserve the genetic resource of wild populations. In this study, we sequenced regional Pacific abalone Haliotis discus samples from three different locations around the Korean peninsula to assess population structure, utilizing Genotyping-by-Sequencing (GBS) method. Using PstI enzyme for genome reduction, we demonstrated the resultant library represented the whole genome region with even spacing, and as a result 16,603 single nucleotide variants (SNVs) were produced. Read More

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Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

Mol Genet Genomic Med 2021 Apr 6:e1682. Epub 2021 Apr 6.

National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.

Background: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain-hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However, the correlation between genotype and phenotype has not been elucidated due to the limited number of patients available. Read More

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Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.

Clin Rev Allergy Immunol 2021 Apr 5. Epub 2021 Apr 5.

Department of Virology and Immunology, Auckland City Hospital, Auckland, 1010, New Zealand.

Common variable immunodeficiency disorders (CVIDs) are rare primary immunodeficiency diseases (PIDs) mostly associated with late onset antibody failure leading to immune system failure. Patients with CVID are predisposed to disabling complications such as bronchiectasis and systemic autoimmunity. In recent years a large number of genetic defects have become associated with these disorders. Read More

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Recent advances in understanding the Th1/Th2 effector choice.

Fac Rev 2021 15;10:30. Epub 2021 Mar 15.

Molecular and Cellular Immunoregulation Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

For over 35 years since Mosmann and Coffman proposed the seminal "type 1 T helper (Th1)/type 2 T helper (Th2)" hypothesis in 1986, the immunological community has appreciated that naïve CD4 T cells need to make important decisions upon their activation, namely to differentiate towards a Th1, Th2, Th17 (interleukin-17-producing T helper), follicular T helper (Tfh), or regulatory T cell (Treg) fate to orchestrate a variety of adaptive immune responses. The major molecular underpinnings of the Th1/Th2 effector fate choice had been initially characterized using excellent reductionist culture systems, through which the transcription factors T-bet and GATA3 were identified as the master regulators for the differentiation of Th1 and Th2 cells, respectively. However, Th1/Th2 cell differentiation and their cellular heterogeneity are usually determined by a combinatorial expression of multiple transcription factors, particularly , where dendritic cell (DC) and innate lymphoid cell (ILC) subsets can also influence T helper lineage choices. Read More

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Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.

Mov Disord Clin Pract 2021 Apr 2;8(3):299-310. Epub 2021 Mar 2.

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London United Kingdom.

Background: Progress in genetics - particularly the advent of next-generation sequencing (NGS) - has enabled an unparalleled gene discovery and revealed unmatched complexity of genotype-phenotype correlations in movement disorders. Among other things, it has emerged that mutations in one and the same gene can cause multiple, often markedly different phenotypes. Consequently, movement disorder specialists have increasingly experienced challenges in clinicogenetic correlations. Read More

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An Information Theoretical Multilayer Network Approach to Breast Cancer Transcriptional Regulation.

Front Genet 2021 18;12:617512. Epub 2021 Mar 18.

Computational Genomics Division, National Institute of Genomic Medicine, Mexico City, Mexico.

Breast cancer is a complex, highly heterogeneous disease at multiple levels ranging from its genetic origins and molecular processes to clinical manifestations. This heterogeneity has given rise to the so-called intrinsic or molecular breast cancer subtypes. Aside from classification, these subtypes have set a basis for differential prognosis and treatment. Read More

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Insights into attention-deficit/hyperactivity disorder from recent genetic studies.

Psychol Med 2021 Apr 5:1-13. Epub 2021 Apr 5.

MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.

Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder (NDD). In this narrative review, we summarize recent advances in quantitative and molecular genetic research from the past 5-10 years. Combined with large-scale international collaboration, these advances have resulted in fast-paced progress in understanding the etiology of ADHD and how genetic risk factors map on to clinical heterogeneity. Read More

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Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study.

EBioMedicine 2021 Apr 1;66:103309. Epub 2021 Apr 1.

Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer/University of Granada/ Junta de Andalucía, PTS, Granada, Spain; Department of Otolaryngology, Instituto de Investigación Biosanitaria, ibs.Granada, Hospital Universitario Virgen de las Nieves, Granada, Spain; Department of Surgery, Division of Otolaryngology, University of Granada, Granada, Spain. Electronic address:

Background: tinnitus is a heterogeneous condition associated with audiological and/or mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a relevant heritability, according to twins, adoptees and familial aggregation studies. The genetic contribution to severe tinnitus is unknown since large genomic studies include individuals with self-reported tinnitus and large heterogeneity in the phenotype. Read More

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Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke.

J Stroke Cerebrovasc Dis 2021 Apr 1;30(6):105744. Epub 2021 Apr 1.

Division of Neurology, Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy. Electronic address:

Background And Objectives: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in the ABCC6 gene. The phenotypic spectrum of PXE is highly variable and includes principally three major features: skin lesions, eye and vascular manifestations, while brain manifestations are less common. To date about 400 different PXE associated variants in ABCC6 gene are described without any evident genotype-phenotype correlation. Read More

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Deep brain stimulation outcomes in the malignant end of Parkinson's disease spectrum.

Parkinsonism Relat Disord 2021 Mar 28;86:5-9. Epub 2021 Mar 28.

Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy; Neurology 2 Unit, A.O.U. Città Della Salute e Della Scienza di Torino, Corso Bramante 88, 10124, Torino, Italy.

Background: Heterogeneity of Parkinson's Disease (PD) phenotype may influence deep brain stimulation (DBS) outcome. However, DBS response in the malignant end of the PD spectrum has been poorly investigated.

Objective: To evaluate and compare DBS outcomes in malignant and benign PD patients, defined according to motor and non-motor symptom presentation at the presurgical selection. Read More

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Cell-free decellularized cartilage extracellular matrix scaffolds combined with interleukin 4 promote osteochondral repair through immunomodulatory macrophages: In vitro and in vivo preclinical study.

Acta Biomater 2021 Mar 31. Epub 2021 Mar 31.

Institute of Orthopedics, The First Medical Center, Chinese PLA General Hospital, Beijing Key Lab of Regenerative Medicine in Orthopedics, Key Laboratory of Musculoskeletal Trauma and War Injuries PLA, No. 28 Fuxing Road, Haidian District, Beijing 100853, China. Electronic address:

Cartilage regeneration is a complex physiological process. Synovial macrophages play a critical immunomodulatory role in the acute inflammatory response surrounding joint injury. Due to the contrasting differences and heterogeneity of macrophage, the phenotype of macrophages are the key determinants of the healing response after cartilage injury. Read More

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Mechanisms of Immune Evasion in Acute Lymphoblastic Leukemia.

Cancers (Basel) 2021 Mar 26;13(7). Epub 2021 Mar 26.

Department of Immunology, Medical University of Warsaw, 02-097 Warsaw, Poland.

Acute lymphoblastic leukemia (ALL) results from a clonal expansion of abnormal lymphoid progenitors of B cell (BCP-ALL) or T cell (T-ALL) origin that invade bone marrow, peripheral blood, and extramedullary sites. Leukemic cells, apart from their oncogene-driven ability to proliferate and avoid differentiation, also change the phenotype and function of innate and adaptive immune cells, leading to escape from the immune surveillance. In this review, we provide an overview of the genetic heterogeneity and treatment of BCP- and T-ALL. Read More

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Genetic Variants Allegedly Linked to Antisocial Behaviour Are Equally Distributed Across Different Populations.

J Pers Med 2021 Mar 16;11(3). Epub 2021 Mar 16.

Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy.

Human behaviour is determined by a complex interaction of genetic and environmental factors. Several studies have demonstrated different associations between human behaviour and numerous genetic variants. In particular, allelic variants in SLC6A4, MAOA, DRD4, and DRD2 showed statistical associations with major depressive disorder, antisocial behaviour, schizophrenia, and bipolar disorder; BDNF polymorphic variants were associated with depressive, bipolar, and schizophrenia diseases, and TPH2 variants were found both in people with unipolar depression and in children with attention deficit-hyperactivity disorder (ADHD). Read More

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Reprograming of Tumor-Associated Macrophages in Breast Tumor-Bearing Mice under Chemotherapy by Targeting Heme Oxygenase-1.

Antioxidants (Basel) 2021 Mar 16;10(3). Epub 2021 Mar 16.

Cancer Research Institute, Seoul National University, Seoul 03087, Korea.

Tumor-associated macrophages (TAMs) represent one of the most abundant components of the tumor microenvironment and play important roles in tumor development and progression. TAMs display plasticity and functional heterogeneity as reflected by distinct phenotypic subsets. TAMs with an M1 phenotype have proinflammatory and anti-tumoral properties whereas M2-like TAMs exert anti-inflammatory and pro-tumoral functions. Read More

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Microglia Diversity in Healthy and Diseased Brain: Insights from Single-Cell Omics.

Int J Mol Sci 2021 Mar 16;22(6). Epub 2021 Mar 16.

Laboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, 02-093 Warsaw, Poland.

Microglia are the resident immune cells of the central nervous system (CNS) that have distinct ontogeny from other tissue macrophages and play a pivotal role in health and disease. Microglia rapidly react to the changes in their microenvironment. This plasticity is attributed to the ability of microglia to adapt a context-specific phenotype. Read More

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Simultaneous Homozygous Mutations in and in an Inbred Chinese Pedigree.

Genes (Basel) 2021 Mar 5;12(3). Epub 2021 Mar 5.

Department of Nephrology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Long-quan Branch, Longquan 323716, China.

Gitelman syndrome (GS) and Bartter syndrome (BS) type III are both rare, recessively inherited salt-losing tubulopathies caused by and mutations, respectively. We described a 48-year-old male patient with fatigue, carpopedal spasm, arthralgia, hypokalemic alkalosis, mild renal dysfunction, hypomagnesemia, hypocalciuria, hyperuricemia, normotension, hyperreninemia and chondrocalcinosis in knees and Achilles tendons. His parents are first cousin. Read More

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Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family.

Genes (Basel) 2021 Mar 31;12(4). Epub 2021 Mar 31.

Department of Endocrinology, Jagiellonian University Medical College, 31-008 Cracow, Poland.

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the variant c. Read More

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