2001 phenotype. Medical search. Frequent questions

Eighteen isofemale strains were used in our tests and, after the first generation, all the individuals produced in each strain were maintained at 29°C. Different phenotype alterations were observed in subsequent generations, similar to mutations already well characterized in D. melanogaster (white, sepia, blistered and curly). (scielo.br)
Objective To evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO). (bmj.com)
To our knowledge, there is no study on the ophthalmic phenotypes of TCIRG1 mutations in patients with IMO. (bmj.com)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)

Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. (springer.com)
Variants were frequently familial, and genotype-phenotype analyses demonstrated striking interfamilial and intrafamilial variability. (springer.com)
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. (medscape.com)

In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. (nature.com)
In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. (springer.com)
In conclusion, our knowledge of the alleles responsible for different blood group phenotypes has been increased, which has resulted in improved clinical genotyping methods. (dissertations.se)
the phenotype is complex and all the clinical features are progressive, suggesting a degenerative process. (medscape.com)
The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands. (biomedcentral.com)
Some patients have been described with a clinical phenotype consistent with type II sialidosis and a combined deficiency of neuraminidase and beta-galactosidase. (medscape.com)
Treatment should be planned according to clinical signs and symptoms and can vary from simple curettage associated with conservative therapies to en-bloc resection 25 . (bvsalud.org)
Immunogenetics and clinical phenotype of sympathetic ophthalmia in British and Irish patients. (cdc.gov)

Does the frailty phenotype at the age of 66 to 71 predict death? (smw.ch)
This longitudinal study aimed to evaluate the significance of fulfilling at least one criterion of the frailty phenotype in the late sixties as a predictor of short- and long-term mortality in males and females. (smw.ch)
After baseline assessment of the five criteria of Fried's frailty phenotype (shrinking, exhaustion, muscular weakness, motor slowness and low physical activity) in 2005 (age 66-71 years), deaths were recorded over 14 years. (smw.ch)
CONCLUSIONS: The significantly higher mortality of individuals presenting 1+ frailty criteria supports the appropriateness of a systematic assessment of the frailty phenotype at the age of 66-71 years. (smw.ch)
Over the course of the trial, frailty status was assessed at baseline and annually according to the five features of the physical frailty phenotype - weakness, fatigue, involuntary weight loss, low gait speed and low activity level. (dsm.com)

Teaching Hospital during the study period, as either slow or rapid acetylators using a October 2001 to July 2002. (who.int)

Thrifty phenotype refers to the correlation between low birth weight of neonates and the increased risk of developing metabolic syndromes later in life, including type 2 diabetes and cardiovascular diseases. (wikipedia.org)
Finally, the phenotype/genotype correlation for clinically significant blood group systems in Jordanian blood donors was studied for the first time to investigate the reliability of current genotyping methods in populations of Arabian descent. (dissertations.se)

Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. (herts.ac.uk)

Blood 2001(4): 880-5 [ PubMed abstract ]. (lu.se)

The absence of Kx antigen and reduction of Kell antigen is known as the "McLeod phenotype," and refers only to the red blood cells. (medlineplus.gov)

In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. (nature.com)
Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able to accommodate data sparsity, which arises from unbalanced case-control ratios and/or rare genetic variants. (karger.com)
Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. (springer.com)

Similar phenotype-endotype research has been done for chronic obstructive pulmonary disease , he said at the meeting, pointing to a phase 3 randomized controlled trial, published in the New England Journal of Medicine, that found dupilimab (Dupixent) was effective for patients with COPD who had type 2 inflammation as indicated by elevated eosinophil counts. (medscape.com)
CD68 + macrophages expressing markers of a cytotoxic M1 phenotype or a noncytotoxic M2 phenotype were identified in the islets and stroma of surgically resected tumours from 20 patients with extended survival (median 92.7 months) and 20 with poor survival (median 7.7 months), using immunohistochemistry. (ersjournals.com)
Macrophages infiltrating the tumour islets in nonsmall cell lung cancer were predominantly of the M1 phenotype in patients with extended survival. (ersjournals.com)
We found that by comparing frameshift and point mutation cases in 27 Chinese patients with TCIRG1-IMO, severity of the ocular manifestations was related to the type of gene mutation, and the frameshift mutation in TCIRG1 led to more serious phenotypes. (bmj.com)
Les IFN et les IL-10 étaient signi cativement élevés chez ceux qui présentaient une néphropathie diabétique (ND) et une maladie rénale en phase terminale (MRPT) par rapport aux témoins et aux patients diabétiques sans ND. (who.int)

None of the participants had a history of drug-induced lupus prior to Acetylation is considered a major meta- phenotype determination. (who.int)
A protective but not significant association was found for slow acetylation phenotype. (cdc.gov)

The term Thrifty Phenotype was first coined by Charles Nicholas Hales and David Barker in a study published in 1992. (wikipedia.org)
This results in a thrifty phenotype (Hales & Barker, 1992). (wikipedia.org)

Cancer Genetics and Cytogenetics (2001) 124 (1): 80. (karger.com)

Ritchlin draws inspiration from pulmonology, which subtyped asthma into various phenotypes (for example, eosinophilic, allergic, intrinsic, exercise-induced) and "drilled down" on understanding underlying mechanisms to guide more specific treatment. (medscape.com)
2001. Systematic review: exposure to pets and risk of asthma and asthma-like symptoms. (cdc.gov)

Persistence of a MHO phenotype, which was associated with favorable outcomes, was related to younger age and a more peripheral fat distribution. (diabetesjournals.org)

The aim of this study was to investigate the molecular genetic variation found in various phenotypes and in different ethnic populations, to identify new alleles, to try to understand how they contribute to the different phenotypes and to improve current DNA-based blood grouping methods for use in transfusion medicine. (dissertations.se)

Herein, the growth and proliferation, gene expression, multipotency and phenotype of cultured hBMSCs were compared with those incubated with CTX. (ijbs.com)

Die Mutation in diesem Gen, das ein Protein kodiert, das ursprünglich Cryopyrin genannt wurde (Hoffman et al 2001), führt zu einer unkontrollierten, überschießenden Bildung von Interleukin-1ß (IL-1ß) . (rheuma-online.de)
Während es bei FCAS mit 2% angesetzt wird, erreicht diese schwere Komplikation bei MWS bis zu 25% (Hoffman et al 2001, Pithukpakorn et al 2006, Van der Hilst et al 2005, Hawkins et al 2004). (rheuma-online.de)

The thrifty phenotype hypothesis says that early-life metabolic adaptations help in survival of the organism by selecting an appropriate trajectory of growth in response to environmental cues. (wikipedia.org)
The relationship between the phenotype and mortality was investigated graphically using Kaplan-Meier survival curves and quantified in Cox models. (smw.ch)

Before the term "Thrifty Phenotype" was coined, Barker had noted the phenomenon with cardiovascular disease. (wikipedia.org)
To determine the correlates of the "metabolically healthy obese" (MHO) phenotype and the longitudinal risks of diabetes and cardiovascular disease (CVD)/stroke associated with this phenotype. (diabetesjournals.org)

Thus, the most convincing evidence to date is that phenotype continues to matter for African Americans. (encyclopedia.com)

Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)

We used loss- and gain-of-function approaches including genetic manipulation of the lipolytic enzyme Pnpla2 , change in environmental temperature, and lifestyle interventions to comprehensively test the premise that a thermogenic-like BAT phenotype is coupled with enhanced glucose tolerance in female mice. (diabetesjournals.org)

The effects of ethanol on cell phenotypes and markers of the epithelial-to-mesenchymal transition were determined in cell culture. (iiarjournals.org)

We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. (springer.com)

The genomic organisation of the JK blood group locus was characterised and the molecular basis of the Jk(a-b-) phenotype associated with the absence of the urea transporter JK glycoprotein in erythrocytes was elucidated in different ethnic groups. (dissertations.se)

Cux1 heterozygous ( Cux1 +/ − ) animals are fertile and display no obvious phenotypes, but an in-depth analysis of the consequence of heterozygosis has never been pursued [ 13 ]. (nature.com)
Platelets were isolated for phenotype analysis, and DNA was isolated from lymphocytes for genotype determination. (aacrjournals.org)

Our aim was to establish whether or not major repeaters are a distinctive suicidal phenotype, taking into account a wide range of potential competing risks including sociodemographic characteristics, personal and familial history, psychiatric diagnoses, and personality traits. (psychiatrist.com)

Hu G, Liu P, Feng J, Jin Y. Transplantation with Bone Marrow Stromal Cells Promotes Wound Healing Under Chemotherapy through Altering Phenotypes. (ijbs.com)
Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation. (lu.se)

Studies of relevant literature (MedLine search) in addition to our own experiences, show that CYP genotyping can predict the phenotype and thereby explain some abnormal drug responses and may be used to individualise pharmacotherapy. (tidsskriftet.no)

Relationship between genotype and phenotype of flagellin C in Salmonella. (wjgnet.com)

However, in whole blood, opsonophagocytic and intracellular killing assays, the LH/HC phenotype demonstrated higher resistance to host phagocytic killing. (cdc.gov)
siRNA treatment ameliorated the preeclamptic phenotype in both models, reduced blood pressure, and improved intrauterine growth restriction, with no observed deleterious effects on the fetus. (jci.org)

As a consequence of racial intermixture during the colonial era, phenotype in the contemporary Mexican-origin population ranges on a continuum from those who appear white to those who have dark skin, indigenous facial features, and shorter height than average. (encyclopedia.com)

The primary aim of the present study was to determine the immunological phenotype of NSCLC-associated macrophages. (ersjournals.com)

Recent evidence, however, supports a dual role for macrophages in the regulation of tumour proliferation and immune control 10 , 16 , and indicates that the local tissue microenvironment plays a critical role in determining cell phenotypes. (ersjournals.com)
Specifically, these extracellular matrix (ECM) components critically modulate the tumor cell "motile phenotype" affecting their adhesive/migratory abilities which are directly correlated to the metastatic cascade [ 5 , 6 ]. (hindawi.com)

Frailty in older adults: evidence for a phenotype. (smw.ch)
There is evidence suggesting that the phenotype of the cancer cells influences their ability to metastasize ( 14 ). (iiarjournals.org)

This paradox generates doubts about whether the thrifty phenotype is adaptive for human offspring. (wikipedia.org)
Introduction to Human Phenotype Ontology. (crossref.org)
Exposing the human nude phenotype. (lu.se)

The British journal of ophthalmology 2001 Mar 85 (3): 281-6. (cdc.gov)

This phenotype has recently attracted interest in other medical specialties for risk assessment before stressful interventions in older adults. (smw.ch)

However, leading researchers in rheumatology and dermatology believe that they're turning the corner toward a day when therapies are phenotype-targeted and diagnosis can be made early and treatment begun well before inflammation worsens and pain and joint damage ensue. (medscape.com)

In this phenotype, widespread methylation of CpG islands results in the epigenetic inactivation of tumor suppressor genes by promoter methylation. (biomedcentral.com)
Taken together, our results indicate hBMSCs can accelerate wound healing under chemotherapy through altering their phenotypes. (ijbs.com)

It is identified by a specific phenotype that contributes to the practice of geriatric medicine, where it is considered a potential target for preventive action. (smw.ch)

Specifically, cancer cells that transition from an epithelial to a mesenchymal phenotype have a higher metastatic ability than those with an epithelial phenotype ( 15 ). (iiarjournals.org)

The link between phenotype and socioeconomic status is also evident within the Mexican-origin population in the United States and Mexico. (encyclopedia.com)

After the inflammation fades away, microglia shift into the alternative activated M2 phenotypes that play a role in neuroprotection. (frontiersin.org)
The role of macrophage phenotypes in tumour progression has been extensively reviewed 6 - 10 . (ersjournals.com)

Anatomy29

Organisms19

Diseases13

Chemicals and Drugs51

Analytical, Diagnostic and Therapeutic Techniques and Equipment44

Psychiatry and Psychology2

Phenomena and Processes104

Disciplines and Occupations1

Information Science4

Health Care6

Mutations4

Genotype-phenotype3

Clinical8

Frailty phenotype5

20021

Correlation2

Chromosomal1

Abstract1

McLeod1

Variants3

Patients5

Acetylation2

19922

Genetics1

Asthma2

Persistence1

Alleles1

Gene Expression1

Hoffman2

Survival2

Cardiovascular disease2

African Americans1

Intellectual disability1

Genetic1

Markers1

Describe1

Molecular1

Analysis2

Competing risks1

Bone2

Predict1

Relationship1

Blood2

Consequence1

Study1

Cell2

Evidence2

Human3

Journal1

Risk1

Treatment1

Results2

Specific1

Higher1

Link1

Role2