Decrease mutation missense. Medical search. Frequent questions

The DNA sequence can be run with CLN8 Sanger sequencing or CLN8 Targeted Familial Mutations whether its single, double, or triple exon sequencing. (wikipedia.org)
Many cases of GCH1 gene mutation negative have been discovered to harbor exon deletions in the GCH gene. (medscape.com)
Bartram CEdwards RHTClague JBeynon RJ McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. (jamanetwork.com)
Sugie HSugie YIto MFukuda TNonaka YIgarashi Y Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation. (jamanetwork.com)

In conclusion, in the present study, two novel heterozygous mutations were identified in RARS2, namely c.1718C>T(p.Thr573Ile) and c.991A>G (p.Ile331Val). (spandidos-publications.com)
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth disorder caused by germline heterozygous mutations in the DNA methyltransferase DNMT3A. (haematologica.org)
Less severe elevations of homocysteine levels are more commonly observed as a result of heterozygous mutations of these enzymes, dietary deficits of folate or vitamin B 12 , or in patients with liver disease or decreased renal function [ 6 ]. (biomedcentral.com)

In a second group of 22 patients presenting with arterial tortuosity, stenosis and aneurysms, FBLN4 mutations were identified in three patients, two homozygous missense mutations (p.Glu126Lys and p.Ala397Thr) and compound heterozygosity for missense mutation p.Glu126Val and frameshift mutation c.577delC. (uzh.ch)
We identified regions of homozygosity and performed whole exome sequencing that revealed a homozygous missense mutation in TOR1AIP1 . (biomedcentral.com)

This gene in humans contains 6 exons, and various mutations (missense, frameshift, base insertions, base deletions) have been described. (medscape.com)
These consequences can range from benign (e.g. synonymous mutations) to catastrophic (e.g. frameshift mutations), with regard to protein production, composition, and function. (genengnews.com)

There are at least ten mutations within the chromosome that cause the disease, and the most common missense mutation occurs at codon 24, where a glycine takes the place of an arginine. (wikipedia.org)
This primary mutation can also be paired with a missense at codon 237, where an arginine takes the place of a glycine. (wikipedia.org)
Moreover, it has been shown that variants destroying stop codons in translated uORFs are under strong negative selection, presumably because the resultant translational readthrough can decrease start codon recognition and translation initiation at the coding sequence (CDS) 10 . (nature.com)
Whole exome sequencing identified a heterozygous missense mutation at codon 35 of the fibrinogen α (FGA) gene. (escholarship.org)

Northern epilepsy syndrome is caused by an inherited autosomal recessive mutation in the telomeric region of the short arm of chromosome 8. (wikipedia.org)
A point mutation in the gene for TH has been shown to result in autosomal-recessive DRD. (medscape.com)
Point mutation in the gene for SR has been detected in patients who have autosomal-recessive DRD. (medscape.com)
Some of these coding region mutation-negative cases may represent autosomal-recessive, TH-deficient DRD, while others are apparently sporadic. (medscape.com)
Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl‑tRNA synthetase 2 (RARS2) gene. (spandidos-publications.com)

This mutant kinase has decreased enzymatic activity in vitro. (nih.gov)

When a mutation causes an amino acid to be deleted or an incorrect amino acid to be added, the CFTR protein cannot form its correct 3-D shape and function properly. (cff.org)
The F508del mutation removes a single amino acid from the CFTR protein. (cff.org)
Among the identified mutations, one deletes one copy of the entire gene, whereas the four other ones are amino acid substitutions. (genengnews.com)
The majority of the mutations that have been identified are missense mutations that result in the synthesis of a glucokinase molecule with an altered amino acid sequence. (elsevierpure.com)
The characterization of mutations in glucokinase that are associated with a distinct and readily recognizable form of NIDDM has led to the identification of key amino acids involved in glucokinase catalysis and localized functionally important regions of the glucokinase molecule. (elsevierpure.com)
The latter are always missense mutations, causing single amino acid substitutions in most of the cases. (alzforum.org)
HRAS G12X indicates any HRAS missense mutation that results in replacement of the glycine (G) at amino acid 12 by a different amino acid. (jax.org)
HRAS G13X indicates any HRAS missense mutation that results in replacement of the glycine (G) at amino acid 13 by a different amino acid. (jax.org)
HRAS Q61X indicates any HRAS missense mutation that results in replacement of the glutamine (Q) at amino acid 61 by a different amino acid. (jax.org)
The pathogenic role of TOR1AIP1 mutation is supported by a) the involvement of a highly conserved amino acid, b) the absence of the mutation in controls, c) the functional interaction of LAP1 with torsinA, and d) mislocalization of LAP1 in patient cells. (biomedcentral.com)

Until now, the consequences of the identified pathogenic mutations have remained incompletely understood because of a lack of detailed phenotypic analyses in relevant mouse models. (biomedcentral.com)
Since then, 66 pathogenic mutations in progranulin have turned up (see mutation database ). (alzforum.org)

It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea. (molvis.org)
To understand the molecular pathogenesis of RTT, we have developed mouse models recapitulating RTT-associated mutations. (upenn.edu)
Furthermore, we provide the first evidence for the involvement of altered TGFbeta signaling in the pathogenesis of FBLN4 mutations in humans. (uzh.ch)

Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)
Gamma-secretase gene mutations in familial acne inversa. (alzforum.org)
With Aβ, tau, and α-synuclein, mutations that drastically increase expression cause familial early onset disease, whereas risk alleles influence sporadic disease. (alzforum.org)
In contrast, the general theme emerging from progranulin genetics is that null mutations that slash protein levels in half cause familial FTLD-U, while milder missense mutations that cause a partial loss of function have a susceptibility role in Alzheimer's, amyotrophic lateral sclerosis, and perhaps Parkinson disease, van Broeckhoven said in her talk in Prague. (alzforum.org)

Among cancer-associated TP53 mutations, missense substitutions predominate and typically result in a high mutated-p53 protein level. (muni.cz)

Rare mutations have been described in genes involved in ovarian development and/or function such as FSHR (MIM 136435), LHCGR (MIM 152790), BMP15 (MIM 300247), POF1B (MIM 300603), NOBOX (MIM 610934), INHA (MIM 147380), GDF9 (MIM 601918), NR5A1 (MIM 184757), and FIGLA (MIM 608697) and in meiotic genes [ 9 - 23 ]. (hindawi.com)
Nevertheless, mutations in these genes account for a minority of cases of ovarian dysfunction, indicating that additional factors remain to be identified. (hindawi.com)
As opposed to other styles of muscles dystrophy, where mutations take place in genes encoding structural protein, calpainopathy was the initial reported kind of dystrophy predetermined by mutations within a gene encoding a proteolytic enzyme. (exposed-skin-care.net)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
In most cases, the disease is autosomal dominantly inherited and the patients often have a mutation in genes encoding the muscle contraction apparatus. (biomedcentral.com)
Heterozygous, missense mutations in a- or b-tubulin genes are associated with a wide range of human brain malformations, known as tubulinopathies. (elifesciences.org)
20 000 protein coding genes (Parsons mutations. (who.int)

Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)
In the case of multiple endocrine neoplasia type 2 (MEN 2), gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumors. (intechopen.com)
IDH1 We identified IDH1 mutations in 5 mutations were co-present with TP53 astrocytomas that developed in carriers mutations in 63% of low-grade diffuse of a TP53 germline mutation. (who.int)
Our analyses of IDH1 mutations in for R132C mutations in astrocytes or glioblastomas from a population- precursor cel s that already carry a based study (407 cases) showed that germline TP53 mutation. (who.int)

We show that uORF variants introducing new stop codons, or strengthening existing stop codons, are under strong negative selection comparable to protein-coding missense variants. (nature.com)
In studies examining UGT family 1A variants, the "TATA" box polymorphism in the promoter region of UGT1A1, commonly associated with Gilbert's syndrome, is associated with reduced function in the UGT1A1 transcriptional promoter ( Burchell and Hume, 1999 ) and is associated with decreased formation of the glucuronide conjugate of the important procarcinogenic BaP metabolite, BaP- trans -7,8-dihydrodiol (BPD), in liver microsomes ( Fang and Lazarus, 2004 ). (aspetjournals.org)
The enormous variants and mutations found mean that we are still far from being able to concretely clarify a genotype-phenotype relationship. (bvsalud.org)

In addition, we studied all DPP4 mutations and found the functional substitution R336T weakens both DPP4 protein stability and S-DPP4 binding affinity. (frontiersin.org)
Functional analyses revealed three missense mutations that resulted in decreased ANGPT2 secretion and inhibited the secretion of wild-type (WT)-ANGPT2, suggesting to the authors that these mutations "have a dominant-negative effect on ANGPT2 signaling. (genengnews.com)
Thirty-two mutations predicted to be pathogenic using SIFT, Polyphen-2, PROVEAN, SNPs&GO, PMut, iSTABLE, and PremPS in-silico tools were found located either in critical functional regions or encompassing interactions at the binding interface of Eph-ephrin. (genominfo.org)
Mutations reported in different functional domains of RTKs are linked to the kinase constitutive expression, ligand-independent signaling, and drug sensitivity [ 1 ]. (genominfo.org)
6-9 Some mutations characterised in the HFE gene and leading to a functional defect have been correlated with HH. (bmj.com)
However, the functional consequences of the two mutations are distinct, with loss of axonal transport of ECEL1/DINE in C760R mutants and mRNA expression deficits in G607S mutants. (biomedcentral.com)

Computer graphic illustration depicting a point mutation. (genengnews.com)
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA. (genengnews.com)
point mutation in the intron 19 Date 29-Dec-2000 (Rel. (lu.se)

If the CFTR gene has a nonsense mutation, the protein-building instructions contain an early stop signal that causes the production of the CFTR protein to stop prematurely. (cff.org)
Watch this webcast (starting at 3:03) to see how a nonsense mutation affects production of the CFTR protein and how the mutation might be corrected to make normal CFTR protein. (cff.org)
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease. (jamanetwork.com)
Of note, cardiomyopathy has been reported in LAP1-null mice and in patients with the TOR1AIP1 nonsense mutation. (biomedcentral.com)

These mutations decrease the binding of MeCP2 to methylated DNA and concomitantly reduce MeCP2 protein stability, leading to gene expression and cellular morphological changes in a neuronal cell type-specific manner. (upenn.edu)
Editing this mutation into the Drosophila genome results in global changes in the O-GlcNAc proteome, while in mouse embryonic stem cells it leads to loss of O-GlcNAcase and delayed differentiation down the neuronal lineage. (rcsb.org)
Although studies suggest that αSyn and its missense mutant, A53T, preferentially accumulate in the mitochondria, the mechanisms by which αSyn and mitochondrial proteins regulate each other to trigger mitochondrial and neuronal toxicity are poorly understood. (springer.com)
We find that ectopic expression of TUBA1A -V409I/A mutants disrupt neuronal migration in mice and promote excessive neurite branching and a decrease in the number of neurite retraction events in primary rat neuronal cultures. (elifesciences.org)
Together, our data support a model in which the V409I/A mutations disrupt microtubule regulation typically conferred by XMAP215 proteins during neuronal morphogenesis and migration, and this impact on tubulin activity at the molecular level scales with the impact at the cellular and tissue levels. (elifesciences.org)
2002). Some evidence has recently been produced by Setsuie and colleagues (2005), using a PD rat model in which proteasome inhibitors caused inclusion formation, which resulted in decreased dopaminergic neuronal death that normally follows 6-hydroxyl dopamine (6-OHDA) administration. (ukessays.com)

Since this is a genetic disease, the basis of diagnosis lies in identifying genetic mutations or chromosomal abnormalities. (wikipedia.org)
Genetic mutations such as single nucleotide polymorphisms (SNP) are known as one of the most common forms which related to various genetic disorders and cancers. (researchsquare.com)

To identify mutations in a Chinese family with congenital cataract and microcornea. (molvis.org)
To gain a deeper understanding of the mechanisms of circadian rhythm regulation in humans, we set out to identify mutations in human subjects leading to FASPS. (nih.gov)

Although individuals with the lowest factor VII levels are most likely to be symptomatic, patients with identical mutations may have marked differences in clinical bleeding, suggesting that other factors may contribute to the clinical manifestations of factor VII deficiency. (medscape.com)
Hence, it can be concluded that the evaluated mutations have potential to alter the folding pattern and thus can be further validated by in-vitro , structural and in-vivo studies for clinical management. (genominfo.org)
Second, the review presents some promising approaches to resolve the current barriers in clinical BNP measurement, such as how to decrease cross-reactions and increase the measurement consistency. (degruyter.com)
Bentahir M, Nyabi O, Verhamme J, Tolia A, Horré K, Wiltfang J, Esselmann H, De Strooper B . Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms . (alzforum.org)
We tested the effect of mutated-p53 reactivating molecule PRIMA-1(MET) in 62 clinical CLL samples characterized for TP53 mutations and p53 protein level. (muni.cz)
Other cases will help delineate the clinical spectrum of LAP1-related mutations. (biomedcentral.com)
She put it to work on blood samples from a large Belgian founder family whose 43 patients showcase the dramatic clinical heterogeneity of progranulin mutations. (alzforum.org)
Their clinical diagnoses range from FTD, AD, PD, primary progressive aphasia (PPA), and progressive nonfluent aphasia (PNFA)-all from having inherited the same mutation. (alzforum.org)
A to the respective clinical diagnosis in Visitingscientistsand mutations (R132H). (who.int)
Dr Sumihito Nobusawa case in which an IDH1 mutation occurred genetical y and clinical y distinct entities. (who.int)

Molecular analyses revealed decreased OGT stability and disruption of the substrate binding site, resulting in loss of catalytic activity. (rcsb.org)

Two patients (both male) in this pedigree had congenital cataract and microcornea , and had shown symptoms of vision decrease before two years old. (molvis.org)
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. (qxmd.com)
Our mutant mouse data suggest that ECEL1/DINE G607S and C760R mutations both lead to motor innervation defects as primary causes in ECEL1 -mutated congenital contracture disorders. (biomedcentral.com)

However, the diagnosis of haemochromatosis can now be confirmed using direct HFE mutation testing. (bmj.com)

These sporadic cases may be explained by either incomplete penetrance/expression of GCH1 gene mutations or by de novo mutations or deletions in the gene. (medscape.com)
one heterozygous de novo ANGPT2 whole-gene deletion and four heterozygous ANGPT2 missense mutations. (genengnews.com)
Meanwhile, de novo CNV and loss of function (LoF) mutations merely explain 2.6% of the variance in liability 12 . (nature.com)

We used homozygosity mapping and whole exome sequencing to determine the mutation, western blot and immunolabelling on cultured fibroblasts to demonstrate the lower expression and the mislocalization of the protein. (biomedcentral.com)

In contrast, transgenic mice carrying the same mutation have a shorter circadian period, a phenotype mimicking human FASPS. (nih.gov)
We found that mice with RTT-associated missense mutations, such as R106W, T158M and T158A, develop RTT-like phenotypes and show deficits in neural circuitry. (upenn.edu)
Some genetic causes of primary lymphedema are known and previous studies have shown that dominant-negative mutations in angiopoietin 2 (ANGPT2) promote lymphangiogenesis in mice. (genengnews.com)
ANGPT2 has previously been shown to influence lymphatic development in mice, but this is the first time when mutations in this gene were found to cause lymphedema in humans," noted Alitalo. (genengnews.com)
and, (5) reduced serum LH has been shown to decrease cognitive loss and Aβ deposition in AβPP transgenic mice [ 18 ]. (biomedcentral.com)
Here, we show that the protein level of ClpP is selectively decreased in αSyn-expressing cell culture and neurons derived from iPS cells of PD patient carrying αSyn A53T mutant, and in dopaminergic (DA) neurons of αSyn A53T mice and PD patient postmortem brains. (springer.com)
Animal models of the disease, created using neurotoxins such as rotenone or 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), or transgenic mice that overexpress human SYN gene (for ï ¡-synuclein) mutations, do not faithfully replicate the structure and antigenicity of the Lewy bodies found in PD (Dickson 2001). (ukessays.com)

HRAS activating mutations are commonly found in tumors, including dermatological, head and neck, thyroid, kidney, bladder cancers ( PMID: 29524560 ), squamous cell papilloma ( PMID: 31960612 ), and breast adenomyoepitheliomas ( PMID: 31887226 ). (jax.org)
from April 2008) after acquisition of a TP53 mutation or loss of 1p/19q, suggesting that IDH1 We assessed IDH1 mutations in brain mutations are very early events in tumors diagnosed in patients from 3 gliomagenesis and may affect a common families with Li-Fraumeni syndrome. (who.int)

Therefore, rescuing the p53 tumor suppressor function through specific small molecules restoring p53 wild-type (wt) conformation represents an attractive therapeutic strategy for cancer patients with TP53 missense mutations. (muni.cz)
At the subtle PRIMA-1(MET) concentrations (1-4 mu M), most samples manifested concentration-dependent viability decrease and, conversely, apoptosis induction, with the response being similar in both the TP53-mutated and TP53-wt groups, as well as in the TP53-mutated samples with p53 protein stabilization and without it. (muni.cz)
PRIMA-1(MET) was able to reduce mutated p53 protein in a proportion of TP53-mutated CLL samples, and this reduction correlated with a significantly stronger viability decrease and apoptosis induction than samples with stable p53 levels. (muni.cz)

We utilized a saturation mutagenesis approach to simulate all possible mutations in the MERS-CoV full-length S, S Receptor Binding Domain (RBD) and DPP4. (frontiersin.org)
Reduced secretion of the ANGPT2 mutants results in decreased receptor dimerization and activation, leading to swelling of the leg. (genengnews.com)
Considering the relevance of receptor tyrosine kinases and Eph in NSCLC, these seven mutations were assessed for change in the folding pattern using molecular dynamic simulation. (genominfo.org)
The role of the HFE protein in iron metabolism has not yet been clearly established, but it seems that the complex of HFE with β2-microglobulin interacts with the transferrin receptor (TfR) on the cell surface, which decreases the affinity of TfR for transferrin. (bmj.com)

This is in contrast to the classical FAD-PSEN mutations, which are causing partial loss of function. (alzforum.org)

For G607S, DINE mRNA and protein expression was decreased or almost absent in motor neurons. (biomedcentral.com)
The mutation, absent in controls, results in a change of a highly conserved glutamic acid to alanine. (biomedcentral.com)
This remarkably primary glioblastomas (5%), and absent selective occurrence of R132C mutations in ependymomas. (who.int)

You can find over 440 noted mutations within the calpain 3 gene up to now, included in this 212 (50%) are missense mutations, a lot of which alter its catalytic activity (22). (exposed-skin-care.net)

To characterize the effect of these mutations on the catalytic properties of human β-cell glucokinase, we have expressed native and mutant forms of this protein in Escherichia coli. (elsevierpure.com)

It was the first human, mendelian circadian rhythm variant to be well-characterized, and was shown to result from a mutation in a phosphorylation site within the casein kinase I (CKI)-binding domain of the human PER2 gene. (nih.gov)

The study is published in Science Translational Medicine in an article titled, " Characterization of ANGPT2 mutations associated with primary lymphedema . (genengnews.com)

HRAS G12 mutations are hotspot mutations that often result in decreased Hras GTPase activity, leading to activation of downstream signaling and transformation of cultured cells ( PMID: 6092966 , PMID: 24224811 , PMID: 26985062 ). (jax.org)

10] More than 50% of patients with autosomal-dominant inherited DRD have mutations in the GCH1 gene. (medscape.com)
Thirty percent to 40% of patients with DRD do not show the common mutations. (medscape.com)
The mutations that resulted in primary lymphedema in patients provided investigators important insights into the function of the ANGPT2 protein and mechanisms that lead to lymphedema. (genengnews.com)
We analyzed here the molecular basis of UROS impairment associated with twenty nine UROS missense mutations actually described in CEP patients. (qxmd.com)
Finally, we show evidence that abnormal protein homeostasis is a prevalent mechanism responsible for UROS deficiency and that modulators of UROS proteolysis such as proteasome inhibitors or chemical chaperones may represent an attractive therapeutic option to reduce porphyrin accumulation and prevent skin photosensitivity in CEP patients when the genotype includes a missense variant. (qxmd.com)
Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. (uzh.ch)
Immunoblotting analysis showed a decreased amount of fibulin-4 protein in the fibroblast culture media of two patients, a finding sustained by diminished fibulin-4 in the extracellular matrix of the aortic wall on immunohistochemistry. (uzh.ch)
In conclusion, patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis. (uzh.ch)
Moreover, patients carrying the MTHFR 1298 AC and CC genotypes had a significantly decreased flow-mediated endothelium-dependent vasodilatation (4.3 ± 3.9%) compared with those carrying the MTHFR 1298 AA genotype (6.5 ± 4.4%) ( P = 0.005). (biomedcentral.com)
It is also very significant that in the acne inversa patients, mutations were described in three of the four gamma-secretase subunits, while in FAD patients mutations are observed only in the catalytic PSEN subunit. (alzforum.org)
In addition to limb contractures, patients with ECEL1 mutations have ptosis and strabismus with variable expressivity and penetrance. (biomedcentral.com)
Restriction analysis of mutation W797R, showing digestion with Bsr BI in a normal subject (lane 6), in 2 homozygous patients (lanes 3 and 5), and in 1 heterozygous patient (lane 4). (jamanetwork.com)
Here we focus on two mutations at the valine 409 residue of TUBA1A, V409I and V409A, identified in patients with pachygyria or lissencephaly, respectively. (elifesciences.org)
From this family, Sleegers had serum of six patients, eight younger still-unaffected mutation carriers, and nine non-carriers. (alzforum.org)

This mutation determines a temperature-related loss of function, with the T allele having an enzyme activity of approximately 35% of the values observed in individuals carrying the C allele. (biomedcentral.com)

Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
In this study, we generated a new knock-in mouse strain that carries an ECEL1/DINE pathogenic G607S missense mutation, based on a previous study reporting atypical DA hindlimb phenotypes in two siblings with the mutation. (biomedcentral.com)

The goal of the present investigation is to examine the effects of missense mutations in the MERS-CoV S protein on protein stability and binding affinity with DPP4 to provide insight that is useful in developing vaccines to prevent coronavirus infection. (frontiersin.org)
We investigated the effects of MERS-CoV S protein viral mutations on protein stability and binding affinity. (frontiersin.org)
Using a computational and biophysical joint approach we predicted that most disease-causing mutations would affect UROS folding and stability. (qxmd.com)
Furthermore, the deleterious aftereffect of missense mutations can occur not merely from immediate disruption of CAPN3 function(s), but additionally from disruption from the protein's structural integrity, that could affect its intra or intermolecular protein lead and interactions to decreased stability or altered localization. (exposed-skin-care.net)

These mutations result in markedly reduced GCH values (2-20%), with a resultant decrease in dopamine content. (medscape.com)
Cystic fibrosis is caused by mutations, or errors, in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which result in either no CFTR protein being made or a malformed CFTR protein that can't perform its key function in the cell. (cff.org)
The mutations result in loss of the normal function of the ANGPT2 protein that is known to play a role in lymphatic and blood vessel maturation. (genengnews.com)
These mutations usually result in large reductions in enzyme activity. (elsevierpure.com)
Symptoms are progressive and result in decreased mobility and eventually severe disability. (ukessays.com)

Sequence analysis of the missense mutation in the myophosphorylase gene. (jamanetwork.com)

The ratio of the mutation carriers is 1:135. (wikipedia.org)
Interestingly, the non-symptomatic carriers had the same progranulin levels as their affected relatives, suggesting the ELISA may be able to detect preclinical disease and presymptomatic mutation carriers. (alzforum.org)

This A1298C polymorphism is known to have a lower effect in reducing enzyme activity, compared with the 677 mutation. (biomedcentral.com)
All of the missense mutations show changes in enzyme activity including a decrease in V max and/or increase in K m for glucose. (elsevierpure.com)

HRAS mutant indicates an unspecified mutation in the HRAS gene. (jax.org)

New research shows that inactivating mutations in ANGPT2 are associated with primary lymphedema in humans. (genengnews.com)

Complete genomic sequences of 12 different coronavirus strains demonstrated that the viral structure, with small irrelevant mutations, was stable in the transmission chains and showed remarkable traits of infectious traceability. (ersjournals.com)

The cause of the disease is a missense mutation on chromosome 8. (wikipedia.org)
The difference between 1-CLN8 and 2-CLN8 is the number of mutations and the mutation's location in the chromosome. (wikipedia.org)
More than 100 mutations, mostly missense mutations, have been identified in the factor VII gene located on chromosome 13. (medscape.com)

Protein production mutations, which include nonsense and splice mutations, interfere with the production of the CFTR protein. (cff.org)

We found that destabilizing mutations could be clustered within three types of mechanism according to side chain rearrangements or contact alterations within the pathogenic UROS enzyme so that the severity degree correlated with cellular protein instability. (qxmd.com)
His plasma fibrinogen levels were found to be decreased to 85 mg/dL (normal range 215-464). (escholarship.org)

Thus, the present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations. (spandidos-publications.com)
The present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations. (spandidos-publications.com)

Björnstad syndrome is caused by mutations in the BCS1L gene. (medlineplus.gov)

Loss-of-function presenilin mutations in Alzheimer disease. (alzforum.org)
We thought progranulin protein levels should be decreased in the blood of people with mutations that cause loss of function," Kristel Sleegers in van Broeckhoven's group said in her talk. (alzforum.org)

A model of the angiopoietin 2 growth factor secretion from lymphatic endothelial cells and the effect of ANGPT2 mutations on the development of lymphedema. (genengnews.com)

These findings provide further information on how mutations in coronavirus S proteins effect protein function. (frontiersin.org)
The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology. (hindawi.com)

In addition, V409I/A mutants decrease the recruitment of XMAP215/Stu2 to plus ends in budding yeast and ablate tubulin binding to TOG domains. (elifesciences.org)

Point mutations have a variety of effects on the downstream protein product consequences that are moderately predictable based upon the specifics of the mutation. (genengnews.com)

Anatomy12

Organisms11

Diseases39

Chemicals and Drugs66

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Psychiatry and Psychology2

Phenomena and Processes104

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups3

Health Care7

Exon4

Heterozygous mutations3

Homozygous missense2

Frameshift2

Codon4

Autosomal recessive5

Enzymatic activity1

Amino10

Pathogenic mutations2

Pathogenesis3

Familial4

Substitutions1

Genes7

Germline4

Variants3

Functional6

Point mutation3

Nonsense mutation4

Neuronal6

Genetic mutations2

Identify mutations2

Clinical10

Analyses revealed1

Congenital3

Diagnosis1

Novo3

Whole-exome1

Mice7

Tumors2

TP533

Receptor4

Partial loss of funct1

Absent3

Catalytic activity1

Escherichia1

Kinase1

Characterization1

PMID1

Patients14

Allele1

Phenotypes2

Stability4

Result5

Sequence1

Carriers2

Enzyme activity2

Mutant1

Humans1

Viral1

Chromosome3

Protein production1

Found2

Spectrum2

Syndrome is caused1

Loss-of-funct2

Endothelial cells1

Proteins2

Mutants1

Consequences1