Background: This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. (elsevierpure.com)
Homozygotes or compound heterozygotes for MAT1A mutations are less frequent. (elsevierpure.com)
Patients treated with this class of medications, including ADUHELM, who are ApoE ε4 homozygotes have a higher incidence of ARIA, including symptomatic and serious ARIA, compared to heterozygotes and noncarriers. (nih.gov)
Risk of ARIA, including symptomatic ARIA, was increased in apolipoprotein E ε4 homozygotes compared to heterozygotes and noncarriers. (nih.gov)
Among these patients, there were 54 wild-type homozygotes (AA), 53 heterozygotes (AG) and 21 mutant homozygotes (GG). (spandidos-publications.com)
The homozygotes and heterozygotes for the wild type allele named positive genotypes. (molvis.org)
Given the higher frequency of the variant, only compound heterozygotes were initially referred, allowing for optimization of hearing evaluation and surveillance algorithms before a planned expansion in early 2023 to include V37I homozygotes. (cdc.gov)
APOE ε2 homozygotes, but not APOE ε2 heterozygotes, showed larger GM volumes in areas related to successful aging. (lu.se)
Mutant homozygotes1
The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)
Allele2
Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer's dementia, while the APOE2 allele is associated with a lower risk of Alzheimer's dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. (niagads.org)
Homozygotes for a gene trapped allele die throughout fetal growth and development showing pallor and altered placental labyrinth vasculature. (jax.org)
Heterozygote2
And what would you see in a homozygote/heterozygote for these defects? (flashcardmachine.com)
Methods: Multicenter brain magnetic resonance images (MRIs) from cognitively unimpaired ε2 homozygotes were matched (1:1) against all other APOE genotypes for relevant confounders (n = 223). (lu.se)
Gene2
People with a variant in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. (medlineplus.gov)
Individuals who inherit sickle-cell genes from both parents are homozygotes and develop SCD, while those who inherit the gene from only one parent have the sickle-cell trait (SCT). (who.int)
Mutation2
Méthodes : Une étude rétrospective a été conduite sur 40 patients, originaires de l'île de la Réunion, porteurs de la mutation T655fx49 sur l'exon 11 de LMNA à l'état hétérozygote ou homozygote. (cnrs.fr)
Conclusions : La mutation réunionnaise T655fx49 à l'état homozygote est responsable d'un phénotype sévère de FPLD associé à des atteintes cardiaques fréquentes, similaire aux laminopathies des muscles striés. (cnrs.fr)
Incidence1
The lifetime incidence of severe liver disease alone appears to be approximately 9% (95% confidence interval: 2.6-15.3%) of male HFE C282Y homozygotes of European ancestry based on data from prospective cohort studies. (cdc.gov)
Population1
Results were validated in 135 homozygotes detected through other family and population studies. (nih.gov)
Liver1
The implication of the finding that almost 1 in 10 male C282Y homozygotes is likely to develop severe liver disease in the absence of presymptomatic detection is that widespread detection could avert considerable numbers of premature deaths in populations of predominantly European ancestry. (cdc.gov)
Patients1
Résultats : Des 40 patients appartenant à 24 familles, 28 (70%) étaient hétérozygotes et 12 (30%) homozygotes. (cnrs.fr)
Develop1
Homozygotes for a null mutations develop kyphosis and severe osteoporosis. (jax.org)
Additional1
Discussion: In addition to the known resistance against amyloid-β deposition, the larger GM volumes in key brain regions may confer APOE ε2 homozygotes additional protection against AD-related cognitive decline. (lu.se)
People2
This graph shows the total number of publications written about "Homozygote" by people in this website by year, and whether "Homozygote" was a major or minor topic of these publications. (ouhsc.edu)
Below are the most recent publications written about "Homozygote" by people in Profiles. (ouhsc.edu)
Identify1
The authors calculated that routine genetic screening of such males at age 30 and females at age 45 could identify 40% of all homozygotes in Australia, compared with the detection of roughly 3% of homozygotes using current testing strategies. (cdc.gov)
Genes1
Individuals who inherit sickle-cell genes from both parents are homozygotes and develop SCD, while those who inherit the gene from only one parent have the sickle-cell trait (SCT). (who.int)
Transgenic1
HRM assays are great for distinguishing genotypes for targeted mutations, or showing the presence or absence of a transgene in transgenic mice, but they are not quantitative, and cannot distinguish hemizygous transgenic mice from homozygotes. (jax.org)
Mice1
Homozygote VCP(R155H/R155H) mice typically survive less than 21 days, exhibit weakness and myopathic changes on EMG. (uea.ac.uk)
Females2
[ 18 ] The increase in life expectancy of homozygotes means that affected females are getting pregnant more often than in the past. (medscape.com)
The authors calculated that routine genetic screening of such males at age 30 and females at age 45 could identify 40% of all homozygotes in Australia, compared with the detection of roughly 3% of homozygotes using current testing strategies. (cdc.gov)
Mutation2
Méthodes : Une étude rétrospective a été conduite sur 40 patients, originaires de l'île de la Réunion, porteurs de la mutation T655fx49 sur l'exon 11 de LMNA à l'état hétérozygote ou homozygote. (cnrs.fr)
Conclusions : La mutation réunionnaise T655fx49 à l'état homozygote est responsable d'un phénotype sévère de FPLD associé à des atteintes cardiaques fréquentes, similaire aux laminopathies des muscles striés. (cnrs.fr)
Ancestry2
We then partition by local ancestry and show that deleterious homozygotes arise at a higher rate when ROH overlap African ancestry segments than when they overlap European or Native American ancestry segments of the genome. (biorxiv.org)
The implication of the finding that almost 1 in 10 male C282Y homozygotes is likely to develop severe liver disease in the absence of presymptomatic detection is that widespread detection could avert considerable numbers of premature deaths in populations of predominantly European ancestry. (cdc.gov)
Disease2
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. (nih.gov)
A study of 400 individuals reported that an increase in plasma total homocysteine (tHcy) of 10.4% (CI: 0.01-0.21, p=0.03) for associated with rs4680 (A;A) homozygotes compared with rs4680 (G;G) subjects. (snpedia.com)