• 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)
  • Individuals, with hypermethioninemia due to one of the MAT1A mutations that in heterozygotes cause relatively mild and clinically benign hypermethioninemia are currently often being flagged in screening programs measuring methionine elevation to identify newborns with defective cystathionine β-synthase activity. (elsevierpure.com)
  • Homozygotes or compound heterozygotes for MAT1A mutations are less frequent. (elsevierpure.com)
  • 2] Odds ratios for bleeding were 13 in homozygotes or double heterozygotes and 2.6 in heterozygotes. (medscape.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)
  • Heterozygotes may show subtle abnormalities of epithelial electrolyte transport but are clinically unaffected. (msdmanuals.com)
  • The extent of this symptom varies between two variations of the disease, these being those presenting methionine homozygotes at codon 129 and methionine/valine heterozygotes being the most severe in the latter one. (owlapps.net)
  • Pyruvate kinase deficiency, one of the most common enzymatic defects of the erythrocyte, manifests clinically as a hemolytic anemia that can range from a mildly compensated anemia to severe anemia of childhood. (medscape.com)
  • Disease manifests only in homozygotes. (msdmanuals.com)
  • citation needed] AB variant was first observed clinically shortly after the biochemical characterization of Tay-Sachs disease in 1969. (wikipedia.org)
  • Additionally, there were statistically significant differences for all secondary endpoints, including Alzheimer's Disease Assessment Scale Cognitive Subscale 14 and the Alzheimer's Disease Cooperative Study-Activities of Daily Living Scale for Mild Cognitive Impairment. (pharmacytimes.com)
  • If mutations in both alleles at this locus disrupt the activity of the GM2 activator, beta-hexosaminidase A cannot perform its normal function. (wikipedia.org)
  • Because AB variant is so rarely diagnosed, it is likely that most mutations of GM2A are fatal at the embryonic or fetal stage of development in homozygotes and genetic compounds, and thus are never observed clinically. (wikipedia.org)
  • Investigations for hepatic involvement, ferrochelatase activity level, genetic analysis ( FECH mutations, presence of the hypomorphic FECH IVS3-48C allele trans and ALAS2 mutations) and family studies are advisable. (biomedcentral.com)
  • Mutations that alter the structure of these sites are likely to affect their ability to bind copper, and this in turn may alter the iron-oxidizing activity ( ferroxidase activty) of the enzyme. (plos.org)
  • p73 shares some p53-like activity, but in addition, may also play a role in gastrointestinal epithelial inflammatory responses. (tcd.ie)
  • Cataracts are the leading cause of blindness worldwide and are characterized by progressive aggregation and precipitation of lens proteins, and the development of age‑related cataracts is associated with dysregulated cellular activities of lens epithelial cells. (spandidos-publications.com)
  • A luciferase assay demonstrated that transfection of lens epithelial cells with wild type TP53 3'‑UTR significantly reduced the luciferase activity of the miR‑125b overexpressing cells compared with scramble controls. (spandidos-publications.com)
  • This protein complex has also been implicated in regulating a number of signaling pathways, including Wnt, mammalian target of rapamycin (mTOR), STAT3, cMET, phosphoinositide 3-kinase (PI3K)/AKT, G protein-coupled receptor (GPCR), and epidermal growth factor receptor (EGFR), as well as in the localization and activity of cystic fibrosis transmembrane conductance (CFTR). (basicmedicalkey.com)
  • Variant factor XI molecules (ie, those with a discrepancy between factor XI clotting activity compared with antigen): These variants are rare, and no correlation between mutation type and bleeding tendency has been identified. (medscape.com)
  • The relationships between the Arterial and venous thrombosis, which clinical presentation and FVII levels and the clinically manifest as stroke, myocardial in- associated molecular genetic defects lack farction or pulmonary embolism are a ma- apparent consistency [ 7,10 ]. (who.int)
  • Enzyme assay tests of TSD patients revealed a few unusual false negative cases, patients who developed the disease, yet had normal enzyme activity. (wikipedia.org)
  • The enzyme activity rate in most patients with pyruvate kinase deficiency is 5-25% of normal, with measurement of the intermediates (2,3-diphosphoglycerol and glucose-6-phosphate) proximal to the enzyme defect helping to confirm the diagnosis. (medscape.com)
  • However, the technique to discriminate small amounts of SNP mixed in abundant normal DNA is incomplete due to intrinsic technical problems of PCR such as amplification occurring even in 3'mismatched cases because of high enzyme activity of DNA polymerases. (researchsquare.com)
  • Having one copy of the ApoE4 allele boosts AD risk about threefold, and ApoE4 homozygotes face a 10-fold or greater risk than do non-carriers. (alzforum.org)
  • The most common variant allele, CYP2B6*6 , is associated with diminished hepatic CYP2B6 expression and catalytic activity compared with wild-type CYP2B6*1/*1 . (silverchair.com)
  • The variant allele was found at a frequency of 0.275 in 151970 control chromosomes in the gnomAD Genomes database, including 6918 homozygotes. (genebe.net)
  • In addition, the luciferase activity of miR‑125b overexpressing cells transfected with the construct containing the rs78378222 polymorphism minor allele was also reduced compared with cells transfected with the wild type 3'‑UTR. (spandidos-publications.com)
  • Moreover, AT/AT homozygotes were significantly less frequent in the cancer population than would be expected under the Hardy?Weinberg hypothesis (P = 0.0099). (tcd.ie)
  • Subjects with R/R genotype had significantly higher FVIIc levels than Q353 heterozygote and homozygote subjects (96.36 versus 59.52). (who.int)
  • Thus, both modulated Notch and BMP activity disrupts the conducive tomation of the olfactory nerve, without significantly counterfeiting cell death. (centralparkcarriagesofficial.org)
  • Severe deficiency is defined as factor XIc activity of 15-20 U/dL or lower. (medscape.com)
  • However, this is no longer suitable terminology since the bleeding disorder is not clinically severe, even at very low levels of factor XI. (medscape.com)
  • Severe factor XI deficiency is present when the activity of factor XI in plasma is less than 1-15 IU/dL. (medscape.com)
  • however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973). (nih.gov)
  • A study of host genomic factors related to severe influenza outcomes in children was recommended as an activity that CDC was well positioned to pursue. (cdc.gov)
  • These factors combined indicate a 85-95% functional deficiency, similar to that seen with ZZ homozygotes. (bbk.ac.uk)
  • Clinically they further support the need to quantify loss-of-function in α1-antitrypsin deficiency to individualise patient care. (bbk.ac.uk)
  • With regard to the last item, factor XI deficiency has been associated with bleeding problems after surgery or trauma to areas of the body in which the fibrinolytic activity is particularly high (eg, urogenital tract, oral cavity after dental extraction or tonsillectomy). (medscape.com)
  • The severity of the deficiency is based on plasma factor XIC (clotting) activity. (medscape.com)
  • How the copper deficiency in Menkes disease patients leads to hair abnormalities is not completely understood, but it has been suggested that the low activity of the enzyme sulfhydryl oxidase (which depends on copper for its activity) results in fewer of the disulfide bridges that provide structural strength and elasticity in hair [3]. (plos.org)
  • 2 The results demonstrated a statistically significant and clinically meaningful reduction of decline from baseline to 18 months on the primary endpoint of the Clinical Dementia Rating Scale Sum of Boxes score compared to the placebo. (pharmacytimes.com)
  • No clinical studies have explored the effect of single nucleotide polymorphisms (SNPs) resulting in reduced activity enzymes (e.g. (aspetjournals.org)
  • To address the paucity of research on host genomics and influenza, the Centers for Disease Control (CDC) convened a meeting of experts in 2007 to solicit opinions on how to explore the role of host genomics in public health activities for influenza conducted by the agency. (cdc.gov)
  • Our findings indicate that p73 AT/AT homozygotes appear to be protected against the development of oesophageal cancer. (tcd.ie)
  • Our findings translate isoprene as a clinically interpretable breath biomarker towards potential applications in human medicine. (nature.com)
  • Our study demonstrates that each mutation found in the patient led to complete loss of iron-oxidizing activity, likely due to loss of copper from the HEPHL1 enzyme, and defective glycosylation (attachment of sugars). (plos.org)
  • One hypothesis is that loss of ciliary function of PC1 and PC2 leads to reduced calcium signaling and a subsequent increase of adenylyl cyclase activity and decrease of phosphodiesterase activity, which, in turn, causes increased cellular cyclic AMP (cAMP). (basicmedicalkey.com)
  • Clinically, this observation could have implications in aiding identification of high-risk Barrett's oesophagus patients. (tcd.ie)
  • The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. (nih.gov)
  • In addition, some clinically used drugs may act via K + channel blockade ( Sanguinetti and Jurkiewicz, 1990 ). (jneurosci.org)
  • Human IDI2 is expressed only in skeletal-myocellular peroxisomes and instant spikes in isoprene exhalation during muscle activity underpins its origin from muscular lipolytic cholesterol metabolism. (nature.com)
  • Despite the inclusion of CK levels in most diagnostic criteria for myopathy, there is some evidence that clinically significant muscle toxicity can occur without increase in CK levels. (plos.org)
  • As for whether amyloid imaging can determine a healthy person's AD risk, "we do not recommend it clinically at this time," Reiman said. (alzforum.org)
  • Upon contact with tissue ferences in FVII activity levels and in geno- factor exposed by vascular injury, FVII is type frequencies depend on the ethnic cleaved to its two-chain active form, which groups [ 15 ]. (who.int)
  • Through the NIH Undiagnosed Diseases program, we evaluated a patient who presented clinically with abnormal hair ( pili torti and trichorrhexis nodosa ) and cognitive dysfunction. (plos.org)
  • Subnormal MAT I/III activity leads to hypermethioninemia. (elsevierpure.com)
  • Increased cAMP promotes protein kinase A activity, among other effectors, and, in turn, leads to cyst growth by promoting proliferation and fluid secretion of cyst-lining cells through chloride and aquaporin channels in ADPKD kidneys. (basicmedicalkey.com)
  • To help us explore the physiological consequences of the loss of HEPHL1 activity more thoroughly, we used a gene targeting approach to make mice with a disrupted Hephl1 gene. (plos.org)