Mutations at arginine. Medical search. Frequent questions

In one mutation a serine amino acid (located in position 252) is changed by a tryptophan (mutation Ser252Trp). (brighthub.com)
The number of code words for amino acid varies from one for methionine and tryptophan to six for arginine, leucine, and serine. (i-sis.org.uk)
The p53 mutations in cell lines included a codon 248 C to T transition (arginine to tryptophan) in RD and a codon 280 A to T transversion (arginine to serine) in RH30. (nih.gov)
For example, phosphorylation mainly occurs on a subset of three types of amino acids, including serine (S), threonine (T) and tyrosine (Y). Methylation is predominantly found on lysine (K) and arginine (R) residues. (deepdyve.com)

Here we demonstrated that small molecule inhibition of type I protein arginine methyltransferases (PRMT) protects against polyGR and polyPR toxicity. (frontiersin.org)
Protein arginine methyltransferases (PRMTs) are a family of enzymes that post-translationally modify proteins by methylating nitrogen atoms of arginine residues. (frontiersin.org)
In addition, co-expression of protein arginine methyltransferases (PRMT)1 and PRMT6 lead to a decrease of heterochromatin clustering. (tu-darmstadt.de)
For instance, the Type I protein arginine methyltransferases are known to methylate a number of proteins that contain an arginine glycine glycine (RGG)-motif [6]. (deepdyve.com)

T). Of the five mutations, three were truncated mutations, and the other two were missense mutations. (molvis.org)
The putative structural implications of all of the missense mutations are provided in the database. (medscape.com)
We have shown previously that MECP2 Rett syndrome missense mutations are impaired in chromatin binding and heterochromatin reorganization. (tu-darmstadt.de)

Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)
Putative pathogenic mutations of the COL11A1 gene were absent in this cohort of patients. (molvis.org)
Here we use this model to investigate two pathogenic mutations in PRPF31, SP117 and AD5, causing the autosomal dominant form of RP. (uni-wuerzburg.de)

Recent genomic studies possess identified heterozygous point mutations in arginine 132 (R132) of the IDH1 enzyme (1 2 These mutations result in a neomorphic activity leading to overproduction and build up of the (also D) enantiomer of the metabolite 2-hydroxglutarate (2HG) in 68 to 86% of grade II-III astrocytic and oligodendroglial tumors as well as grade IV secondary glioblastoma having higher rate of recurrence in young individuals (3-5). (globaltechbiz.com)
Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. (nature.com)
They found that 15 of these harbored heterozygous H3.3 mutations (either K27M, G34R or G34V) and 14 had a mutation in ATRX that was associated with a lack of detectable ATRX protein. (genengnews.com)
Two of the samples displayed heterozygous mutations in DAXX, which codes for a protein that heterodimerizes with ATRX and is involved in H3.3 recruitment to DNA. (genengnews.com)
A heterozygous base change was found, resulting in the substitution of an arginine to a stop at codon 152 of the ABCR gene. (nih.gov)
A heterozygous nonsense ABCR gene mutation was found in a patient affected with FFM. (nih.gov)
No other mutation has been identified in the entire coding sequence and the promoter region, suggesting that a heterozygous severe ABCR mutant may be responsible for a mild and delayed FFM phenotype, different from that of age-related macular degeneration. (nih.gov)
The most common inherited NDI is an X-linked trait with variable penetrance in heterozygous females that affects the arginine vasopressin (AVP) receptor 2 gene. (msdmanuals.com)

From Genes to Genetic Diseases: What Kinds of Mutations Matter? (sciencebuddies.org)
Their published paper is titled "Driver mutations in histone H3.3 and chromatin remodeling genes in pediatric glioblastoma. (genengnews.com)
Overall, 21 of 48 samples (44%) had a mutation in at least one of these three genes. (genengnews.com)
Because the three genes weren't sequenced as part of the 600-gene The Cancer Genome Atlas (TCGA) Glioblastoma project, and mutations in H3F3A, ATRX, or DAXX weren't identified in another adult GBM sequencing study, the researchers wanted to see whether H3F3A mutations were indeed specific to GBM and/or pediatric cases. (genengnews.com)
To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
Types 1 and 2 are caused by mutations in the COL2A1 (OMIM 120140 ) and COL11A1 (OMIM 120280 ) genes, respectively. (molvis.org)
It is estimated that these two genes are responsible for more than 95% of the mutations in patients with Stickler syndrome ( HGMD , last updated in March 2015). (molvis.org)
Caused by mutations in roughly 300 different genes, there are a broad variety of mitochondrial disorders, most of which currently have no effective treatment. (newswise.com)
Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
Mutations in four genes have been identified in familial hemiplegic migraine (FHM), from which CACNA1A (FHM type 1) and SCN1A (FHM type 3) code for neuronal voltage-gated calcium or sodium channels, respectively, while ATP1A2 (FHM type 2) encodes the α 2 isoform of the Na + ,K + -ATPase's catalytic subunit, thus classifying FHM primarily as an ion channel/ion transporter pathology. (frontiersin.org)

Muscle strength is normal between attacks but, after a few years, some degree of fixed weakness develops in certain types of PP (especially primary PP). All forms of primary PP (except Becker myotonia congenita [MC]) are either autosomal dominant inherited or sporadic (most likely arising from point mutations). (medscape.com)
These single point mutations cause the FGFRG2 protein to lose its proper functioning and consequently the symptoms of Apert disease. (brighthub.com)
Approximately one third of point mutations affect CGG sites, which usually code for arginine residues. (medscape.com)

AVP-D with an autosomal dominant pattern inheritance is due to a mutation in the prepro-arginine vasopressin ( prepro-AVP2 ) gene, mapped to locus 20p13. (medscape.com)
Such mutations are one cause of autosomal dominant retinitis pigmentosa. (wikipedia.org)
The gene mutation types of the 4 patients were P87S/D96N, N52S/G144R, D96N/P87S, and P87S/P87S, all of which were from their parents, which conformed to the law of autosomal recessive inheritance. (hindawi.com)
PKU is a treatable autosomal recessive inherited metabolic disease and is categorized as per the different etiologies into PKU caused by mutations in the PAH gene resulting in decreased or loss of PAH activity and BH4D deficiency caused by a congenital defect of an enzyme in the synthesis or metabolism pathway of the coenzyme of PAH (BH4) [ 8 , 9 ]. (hindawi.com)
Mutations in HMG-CoA lyase cause HMG-CoA lyase deficiency (HMGCLD), which is an autosomal recessive congenital disorder of metabolism. (academicjournals.org)
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. (medlineplus.gov)
In rare cases, NDI is caused by an autosomal recessive or autosomal dominant mutation that affects the aquaporin-2 gene and can affect both males and females. (msdmanuals.com)

These mutations affect critical residues in the cytoplasmic BTK protein and are highly variable and uniformly dispersed throughout the molecule. (medscape.com)
This paper describes results on the association between protein kinase A and peptides corresponding to wild-type PLN (residues 8-22) and peptides bearing mutations (R9C and A11E) which in the context of full-length PLN (52 residues) result in dilated cardiomyopathy. (elifesciences.org)
The histidine residues, which are located in pairs close to each other, were pairwise substituted for either alanine or arginine. (lu.se)
Moreover, using a mutagenesis study to genetically probe the role of single arginine and lysine residues, we found that the removal of arginines R105 and/or R128 led to a substantial reduction of RidAHOCl's chaperone activity. (bvsalud.org)

One changed lysine 27 to methionine (K27M), and the other changed glycine 34 to arginine (G34R). (genengnews.com)
With HypoPP hyperpolarization-activated cation leak counteracting K + -rectifying current, mutations cause outermost arginine or lysine substitution. (medscape.com)

An international consortium led by researchers at McGill University sequenced the exomes of 48 pediatric GBM samples and found somatic mutations in the H3.3-ATRX-DAXX chromatin remodeling pathway in 44% of tumors and recurrent H3F3A mutations in 31% of tumors. (genengnews.com)
Researchers for the St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project simultaneously reported data from exon sequencing studies demonstrating that 78% of DIPGs and 22% of nonbrainstem pediatric glioblastomas (non-BS-PGs) harbor somatic mutations in H3F3A or in the related gene HIST1H3B, which encodes H3.1. (genengnews.com)
Both teams suggest their respective works are the first to identify somatic mutations in histone H3. (genengnews.com)
This alteration is called a somatic mutation and is present only in certain cells, specifically cells in the brain, eyes, and skin that are involved in blood vessel formation. (medlineplus.gov)
It is thought that somatic GNAQ gene mutations that cause isolated port-wine birthmarks occur later in fetal development than those that cause Sturge-Weber syndrome and so affect fewer cells and tissues. (medlineplus.gov)
Somatic mutations in the GNAQ gene have also been found in an eye cancer called uveal melanoma . (medlineplus.gov)
Based on the TBX5, GATA4, and HEY2, often simultaneously incidence of somatic mutations described in the within the same patient.9-13 The observation of two previously published reports, our study was adequately or more somatic sequence variants in the same powered to replicate the previous studies. (cdc.gov)
No evidence of patients and even within the same gene is expected somatic mutations was found in this study. (cdc.gov)

Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. (medlineplus.gov)
Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. (medlineplus.gov)
The prevalence of arginine:glycine amidinotransferase deficiency is unknown. (medlineplus.gov)
Mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency. (medlineplus.gov)
The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. (medlineplus.gov)
glycine, arginine, and methionine. (medlineplus.gov)
Specifically, arginine:glycine amidinotransferase controls the first step of the process. (medlineplus.gov)
In this step, a compound called guanidinoacetic acid is produced by transferring a cluster of nitrogen and hydrogen atoms called a guanidino group from arginine to glycine. (medlineplus.gov)
GATM gene mutations impair the ability of the arginine:glycine amidinotransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. (medlineplus.gov)
The effects of arginine:glycine amidinotransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain. (medlineplus.gov)
Edvardson S, Korman SH, Livne A, Shaag A, Saada A, Nalbandian R, Allouche-Arnon H, Gomori JM, Katz-Brull R. l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. (medlineplus.gov)
G ⟶ C substitution occurs at the 430th base to convert glycine at position 144 (Gly) to arginine (Arg) (G144R). (hindawi.com)
Nine families carried an identical alteration consisting of the insertion of arginine at position 113 of p16(INK4a), and one carried a missense mutation, in which the valine at position 115 was replaced with a glycine. (lu.se)

All the children underwent coenzyme hydroxybiopterin and urinary pterin spectrum analysis, and the children with deficiency received gene mutation testing. (hindawi.com)
Phenylketonuria (PKU), a congenital metabolic disease [ 1 ], is caused by phenylalanine metabolism disorder resulting from phenylalanine hydroxylase deficiency in the liver due to chromosomal gene mutation, which often leads to central nervous system damage [ 2 , 3 ]. (hindawi.com)
The GNAQ gene mutation associated with Sturge-Weber syndrome changes a single building block (amino acid) in the Gαq protein. (medlineplus.gov)
As in Sturge-Weber syndrome, isolated port-wine birthmarks caused by a GNAQ gene mutation are usually on one side of the face but can be on both sides. (medlineplus.gov)
Myeloperoxidase (MPO) gene mutation in hereditary MPO deficiency. (lu.se)

What kinds of mutations have to occur to cause a genetic disease? (sciencebuddies.org)
In this science project, you will explore online genetic databases to identify how a mutation in a gene can result in a dysfunctional protein, and how other mutations may have no effect at all. (sciencebuddies.org)
Determine why some gene mutations cause genetic diseases, but others do not. (sciencebuddies.org)
Sometimes only a single DNA mutation (change in the DNA sequence) can cause a person to have a devastating genetic disease , and researchers have been able to identify mutations responsible for causing thousands of different genetic diseases and conditions. (sciencebuddies.org)
In summary, these results demonstrate ZNF513 + KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF. (nature.com)
The Apert condition may also result from spontaneous mutations of the genetic material of newborns whose parents have no history of the disorder in their family. (brighthub.com)
Repeat expansion mutations in the C9ORF72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). (frontiersin.org)
Single nucleotide mutations form the majority of genetic polymorphisms (single nucleotide polymorphisms, SNPs) in populations. (i-sis.org.uk)
The single most common genetic event is a missense mutation. (medscape.com)
Using a forward genetic screen, we identified the recessive boygirl ( byg ) mutation. (plos.org)
Genetic testing can look for an abnormal change, or mutation, in the ARG1 gene. (childneurologyfoundation.org)

Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan. (lu.se)

A single amino acid substitution from Proline 197 to Arginine has led to resistance to Inhibition of Acetolactate Synthase as indicated in the table below. (weedscience.com)
A) causes a substitution of a highly conserved amino acid Arginine to a Glutamine residue at position 41 (p.Arg41Gln). (academicjournals.org)
A substitution of all four histidines for either alanine or arginine resulted in inactive enzymes. (lu.se)
[ 11 ] Although the exact mechanism of this disorder has not been elucidated, the prothrombin 20210a mutation involves the substitution of an adenine for a guanine at position 20210 within the 3' untranslated region of the prothrombin gene. (medscape.com)

Point mutation in the codon for the proline residue at position 173 in Domain A of the ALS protein was observed in 7 of 10 R biotypes. (weedscience.com)
In combing through the Cancer Genome Atlas, Hsu documented thousands of instances of codon mutations, but one stood out amongst all cancers: arginine codons, which were lost during mutations far more than they should've been. (scitechdaily.com)
One tumor showed a G to C transversion at p53 codon 213 (arginine to proline), and another showed deletion of the entire gene. (nih.gov)
The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
Nous avons donc étudié l'association de deux polymorphismes - R353Q au niveau du codon 353 intervenant sur la région catalytique et le polymorphisme d'insertion de 10 paires de bases (pb) impliquant la région du promoteur - avec les taux de FVIIc chez 176 Tunisiens en bonne santé. (who.int)

Mutations of arginine 132 (R132) in the enzyme isocitrate dehydrogenase-1 (IDH1) can be found in up to 86% CB-7598 of quality II and III gliomas and extra glioblastoma. (globaltechbiz.com)
Synonymous mutations may lead to changes in protein folding related to translation pausing, RNA splicing, and alterations in enzyme specificity [1]. (i-sis.org.uk)
Synonymous mutations may lead to ribosome stalling, thereby changing protein folding pathways affecting enzyme activity or antigenicity [5]. (i-sis.org.uk)
Most mutations lead to truncation of the BTK enzyme. (medscape.com)
Strikingly diverse functional abnormalities have been identified for disease-linked ATP1A2 mutations which frequently lead to changes in the enzyme's voltage-dependent properties, kinetics, or apparent cation affinities, but some mutations are truly deleterious for enzyme function and thus cause full haploinsufficiency. (frontiersin.org)
Then, a survey is given about ATP1A2 mutations implicated in migraine cases as documented in the literature with focus on mutations that were described to completely destroy enzyme function, or lead to misfolded or mistargeted protein in particular model cell lines. (frontiersin.org)
Chemical modification of the histidines using DEPC or by site-directed mutations resulted in partial or total inactivation of the enzyme. (lu.se)

Our structural and biophysical data provide compelling evidence for the mechanism of rescue of mutant p53 by intragenic suppressor mutations and reveal features by which proteins can adapt to deleterious mutations. (rcsb.org)
These are simple mutations in which one of the amino acids of the proteins is changed. (brighthub.com)
It is now clear that synonymous mutations are not neutral but instead frequently adversely affect the proteins encoded. (i-sis.org.uk)
It is reasonable to assume that the synonymous mutations may have created proteins with adverse phenotypes and contributed to the deterioration in public health, and this must now be thoroughly investigated together with mandatory labelling of GM products. (i-sis.org.uk)
One successful method was increasing the amount of amino acid transporter proteins so that the cells could more efficiently take up arginine and other amino acids. (scitechdaily.com)
You have a bunch of random, abnormal-looking proteins because of all the mutations, and those are more likely to be recognized by the immune system as something that shouldn't belong there," Hsu says. (scitechdaily.com)
posttranslational modifications, amino acid variations, computational mutation analysis, protein PTM predictor, network biology Introduction Protein PTMs are biochemical alterations of amino acids that change the physicochemical properties of target proteins, leading to structural changes and therefore regulating protein-protein interactions and cellular signal transduction in developmental and cancer pathways [1]. (deepdyve.com)
7] analyzed amino acid variations of 15 different PTMs and indicated that about 4.5% of amino acid variations may affect protein function through disruption of PTMs, and the mutation of 238 PTMs sites in human proteins was causative of disease. (deepdyve.com)

By mutating all of the helical cap amino acids, we found that the arginine to alanine mutant of THIK-1 (THIK-1R92A) had a lower sensitivity to IBMX. (uni-marburg.de)

In the event of a mutation in the gene encoding PAH, the activity of PAH synthesized by the liver is reduced or absent, or the deficiency of its coenzyme BH4 will lead to the blockage of the normal metabolic pathway of Phe in the body. (hindawi.com)
This study was designed to detect mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase ( HMGCL ) gene in a Saudi family segregating HMG-CoA lyase deficiency (HMGCLD). (academicjournals.org)
HMGCL gene, 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMG-CoA lyase) deficiency, homozygous mutation, protein stability. (academicjournals.org)
Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency. (lu.se)
Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation. (lu.se)
Arginine Vasopressin Deficiency (Central Diabetes Insipidus) Arginine vasopressin deficiency (central diabetes insipidus) results from a deficiency of vasopressin (antidiuretic hormone [ADH]) due to a hypothalamic-pituitary disorder. (msdmanuals.com)

For example, in cystic fibrosis there is a mutation in a gene, called the CFTR gene, that encodes for a channel that controls the flow of particles in cells. (sciencebuddies.org)
Cystic fibrosis is caused by a mutation in the CFTR gene, which encodes for a chloride channel that is important for regulating water flow into, and out of, the cells. (sciencebuddies.org)
All four of the samples also harbored mutations in ATRX, which encodes part of the transcription/chromatin remodeling complex involved in binding H3.3 to DNA. (genengnews.com)
FHM type 4 is attributed to mutations in the PRRT2 gene, which encodes a proline-rich transmembrane protein of as yet unknown function. (frontiersin.org)
BACKGROUND: : Inherited mutations in the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, and in the cyclin-dependent kinase 4 (CDK4) gene confer susceptibility to cutaneous malignant melanoma. (lu.se)

In addition to glioma mutations in have also been found in individuals with acute myelogenous leukemia and various additional tumors but at lower rate of recurrence than in glioma (6). (globaltechbiz.com)
Analogous mutations in the mitochondrial IDH2 isoform also result in 2HG production but mutations are found less regularly than in various tumors including gliomas (4). (globaltechbiz.com)
The results of the full-length cDNA analysis of the PTPS gene showed that a total of 4 gene mutations were found. (hindawi.com)
At least one mutation in the GNAQ gene has been found to cause Sturge-Weber syndrome. (medlineplus.gov)
While the R183Q mutation has been found in uveal melanoma, individuals with Sturge-Weber syndrome or isolated port-wine birthmark do not have an increased risk of this form of cancer. (medlineplus.gov)
The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)
Studies examining the relationship between mutation type, X-inactivation status, and severity of clinical presentation found significant differences in clinical presentation between different types of mutations. (neurology.org)
Skewed X-inactivation patterns were found in two asymptomatic carriers of MeCP2 mutations and six girls diagnosed with either atypical or classical RTT. (neurology.org)
In another experiment, Hsu found an increase in the number of mutations towards codons that produce amino acids that were more abundant in the environment of the cancer cells. (scitechdaily.com)
In addition to mutations, a number of variants or polymorphisms have been found. (medscape.com)
Consistent with p53 allele loss, each mutation was found in the homo- or hemizygous state. (nih.gov)
We found that MeCP2 is (di)methylated on several arginines and that this modification alters heterochromatin organization. (tu-darmstadt.de)
This is the most frequent mutation found in the HMGCL gene in Saudi population and might have occurred due to a founder effect. (academicjournals.org)
Moreover, to determine the protein stability upon change in amino acid various tools including SDM, I-Mutant, mCSM and DUET were used and found that the mutation, identified in this family, is protein destabilizing. (academicjournals.org)
At least 10 mutations in the TPM3 gene have been found to cause congenital fiber-type disproportion, a disorder that causes general muscle weakness that typically does not worsen over time. (medlineplus.gov)
There are a number of cases in which mutations of the modified sites were found to be involved in disease. (deepdyve.com)
[ 11 , 17 ] One case-control study found evidence of an increased risk of developing an ischemic cerebrovascular event in men aged younger than 60 years with the prothrombin 20210a mutation. (medscape.com)
[ 18 ] A study of cancer patients in the Netherlands found that the presence of the prothrombin 20210a mutation in these patients may increase the risk of venous thrombosis to a level greater than that attributable to the malignancy alone. (medscape.com)
RESULTS: : CDKN2A mutations were found in 10 (19%) of the 52 families. (lu.se)

Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)

10] reported that the K36M mutation of H3 impairs the differentiation of mesenchymal progenitor cells and promotes undifferentiated sarcoma through altered histone methylation landscape. (deepdyve.com)

It replaces the amino acid arginine with the amino acid glutamine at position 183 in the Gαq protein (written as Arg183Gln or R183Q). (medlineplus.gov)
Newswise - Philadelphia, March 9, 2018 - Children with mitochondrial disease s who suffered acute metabolic strokes benefited from rapid intravenous treatment with the amino acid arginine, experiencing no side effects from the treatment. (newswise.com)
These mutations replace the protein building block (amino acid) arginine with the amino acids cysteine or histidine at position 168 of the protein sequence, written as Arg168Cys or Arg168His (also written as R168C or R168H). (medlineplus.gov)
ARG1 breaks down the amino acid arginine in the liver. (childneurologyfoundation.org)

Several mutations identified in phospholamban (PLN) have been linked to familial dilated cardiomyopathy (DCM) and heart failure, yet the underlying molecular mechanism remains controversial. (elifesciences.org)
Our structures, combined with the results from other biophysical and biochemical assays, reveal a common disease mechanism: the mutations in PLN reduce its phosphorylation level by changing its conformation and weakening its interactions with PKA. (elifesciences.org)

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
One hundred sixteen patients with classical and atypical RTT were studied for mutations of the MeCP2 gene by using DHPLC and direct sequencing. (neurology.org)
Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
Mutations in the amino-terminus were significantly correlated with a more severe clinical presentation compared with mutations closer to the carboxyl-terminus of MeCP2. (neurology.org)
This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)
8 Subsequent studies have identified MeCP2 mutations in approximately 65% to 80% of patients with classic RTT, although familial cases and clinically atypical cases show a lower incidence of MeCP2 mutations. (neurology.org)
Rett syndrome is a human intellectual disability disorder that is associated with mutations in the X-linked MECP2 gene. (tu-darmstadt.de)

It is unknown, however, whether normal variants (independent of mutations) in the fragile X gene family (FMR1, FXR1, FXR2) and in FMR2 modulate autistic features. (uni-wuerzburg.de)
Researchers measured the neutralizing titers of plasma samples against the SARS-CoV-2 new variant of concern Omicron's sub-variants BA.4 and BA.5 with arginine (Arg)346 mutations. (news-medical.net)

More specifically, it is caused by mutations in the fibroblast growth factor receptor 2 gene ( FGFR2 ), located on chromosome 10. (brighthub.com)
Mutations in the chromosome 9 copy of this gene cause citrullinemia. (genetex.com)

Two mitochondrial medicine experts from Children's Hospital of Philadelphia (CHOP) reported on eight years of clinical experience in providing intravenous (IV) arginine when new-onset neurologic problems concerning for acute stroke-like episode developed in nine pediatric mitochondrial disease patients. (newswise.com)
Arginine is already used to acutely treat these complex strokes in adult patients who have a well-known mitochondrial disease syndrome called MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes). (newswise.com)
Recent clinical practice guidelines from the Mitochondrial Medicine Society recommended using IV arginine in patients having stroke-like episodes from MELAS, and considering its use at the time of stroke-like episodes in other mitochondrial diseases. (newswise.com)
However, no previous systematic studies were performed to objectively evaluate benefits and risks of IV arginine in other mitochondrial diseases beyond MELAS. (newswise.com)
Like many patients with mitochondrial disease, nearly all patients in this cohort were already taking oral "mitochondrial cocktails" of vitamins and cofactor supplements, commonly including oral arginine, at the time of their stroke-like episode. (newswise.com)

Mutation of the arginine at position 92 to glutamate or glutamine reduced the sensitivity to IBMX even further. (uni-marburg.de)

Therefore the presence or absence of 2HG in the MR spectrum of glioma individuals could successfully genotype tumors as being positive or bad for or mutations. (globaltechbiz.com)
p53 mutations were identified in four of the six tumors or cell lines derived from tumors with embryonal histology and in one of the four with alveolar histology. (nih.gov)

All three resistant mutants carried mutations in their polymerase gene. (springer.com)
Specific molecular analysis is made by single-strand confirmation polymorphism (SSCP), direct DNA analysis, denaturing gradient gel electrophoresis, or reverse transcriptase-polymerase chain reaction to search for the BTK mutation. (medscape.com)
METHODS: : The entire CDKN2A coding region and exon 2 of the CDK4 gene of an affected member of each of 52 families from southern Sweden with at least two cases of melanoma in first- or second-degree relatives were screened for mutations by use of polymerase chain reaction-single-strand conformation polymorphism analysis. (lu.se)

pp. 1411-1427) characterize mutations disrupting an evolutionarily conserved salt bridge between aspartic acid and arginine in human platelet (PFKP) and liver (PFKL) isoforms. (portlandpress.com)
Through Uniform Manifold Approximation and Projection (UMAP) analysis, we identified a panel of mutation mRNA isoforms highly specific to HCC cells. (elifesciences.org)
While protein expression is dictated by the level of gene expression, the structure and function of the protein is largely determined by the isoforms of the mRNA of a given gene and are impacted by mutations or other structural alterations to the amino acids ( Faustino and Cooper, 2003 ). (elifesciences.org)

A single synonymous mutation was sufficient to alter the substrate specificity of a multidrug resistance phenotype in mammalian cells [8].Synonymous mutations affect the stability of mRNA secondary structure in mammals [9]. (i-sis.org.uk)

In contrast, the "structural" oncogenic mutations H168R and R249S induce substantial structural perturbation around the mutation site in the L2 and L3 loops, respectively. (rcsb.org)
And remarkably, in a bid to keep growing, they induce mutations that reduce their reliance on it. (scitechdaily.com)

With HyperPP fast channel inactivation, mutations are usually situated in the inner parts of transmembrane segments or in the intracellular loops affecting the docking sites for the fast inactivating particle, thus impairing fast channel inactivation leading to persistent Na + current. (medscape.com)

[ 12 ] This mutation alters the polyadenylation site of the gene and results in increased mRNA synthesis, with a subsequent increase in protein expression. (medscape.com)

Sequencing a vast array of genomes has revealed surprisingly, that many synonymous mutations were causing dysfunctions and illnesses in plants and animals. (i-sis.org.uk)

Aside from the prothrombin deficiencies, another disorder of prothrombin is the prothrombin 20210a mutation. (medscape.com)

GNAQ gene mutations that lead to uveal melanoma usually occur later in a person's life, typically in adulthood, and are limited to the cells that give rise to the tumor. (medlineplus.gov)

Sanger sequencing of the entire coding region and the intron-exon junctions of the HMGCL gene identified a recurrent missense mutation in exon 2. (academicjournals.org)

On a cellular level, arginine plays a role in a variety of processes, from nitrogen waste disposal to protein synthesis. (scitechdaily.com)
Arginine contains nitrogen. (childneurologyfoundation.org)

Results from human brain phantoms two glioma sufferers harboring the R132 mutation CB-7598 and eight control situations including principal glioblastoma (n = 4) and healthful volunteers (n = 4) with wild-type mutation. (globaltechbiz.com)

Sequence results indicated that multiple mutations for resistance have occurred and that geographically widespread ALS-inhibitor resistance in kochia is not the result of a single resistance allele. (weedscience.com)
This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)
Our results suggest that arginine 92 of THIK-1 and the C2-P1 linker region of K2P channels play an important role in the binding of IBMX, and perhaps other more potent drugs, to the channel. (uni-marburg.de)
Their results suggest that mutations in Arg-Asp pair at the interface of the catalytic-regulatory domains stabilizes the t-state and presents novel mechanistic insight for therapeutic development in cancer. (portlandpress.com)

The second mutation is a Pro253Arg in which a proline amino acid is replaced by an arginine amino acid at position 253. (brighthub.com)

The combination of gene expressions, fusion gene transcripts, and mutation gene expressions significantly improved the classification of liver cancer cells versus benign hepatocytes. (elifesciences.org)
The authors pair single-cell sequencing technology with the LoopSeq synthetic long-read method to examine samples of hepatocellular carcinoma and benign liver, with the goal of identifying mutations and fusion transcripts specific to cancer cells. (elifesciences.org)

Interestingly, we identified the Rett syndrome mutation site R106 as a dimethylation site. (tu-darmstadt.de)

Independent researchers have identified mutations in the histone H3.3-coding gene H3F3A in a large proportion of pediatric cases of gliobastoma multiforme (GBM) and diffuse intrinsic pontine glioma (DIPG), an aggressive brainstem astrocytic tumor that occurs almost exclusively in children. (genengnews.com)

Glioma individuals with mutations have a greater 5-12 months survival rate than individuals with wild-type gliomas (93% versus 51%) when correcting for age (3) suggesting that mutations represent a clinically unique subset of individuals. (globaltechbiz.com)
Ganetzky pointed out that intravenous arginine is much more potent than oral arginine, adding "This study was an opportunity to more systematically analyze a therapy that is clinically used on an empiric basis in the course of acute clinical care. (newswise.com)

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (medlineplus.gov)

We analyzed families with two or more cases of melanoma for germline mutations in CDKN2A and CDK4 to elucidate the contribution of these gene defects to familial malignant melanoma and to the occurrence of other cancer types. (lu.se)

No single mutation accounts for more than 3% of mutations in patients. (medscape.com)
These mutations change single amino acids in slow muscle α-tropomyosin and are thought to impair the protein's ability to interact with myosin and actin within type I skeletal muscle fibers, disrupting muscle contraction. (medlineplus.gov)
The evolution pathways that led to the hyper-mutation clusters in single human leukocyte antigen (HLA) molecules were identified. (elifesciences.org)
CONCLUSIONS: : Our findings confirm that the majority of CDKN2A-associated melanoma families in Sweden are due to a single founder mutation. (lu.se)

Anatomy13

Organisms10

Diseases9

Chemicals and Drugs92

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Phenomena and Processes108

Disciplines and Occupations1

Information Science4

Named Groups2

Health Care5

Serine4

Protein arginine methyltransferases4

Missense mutations3

Pathogenic mutations3

Heterozygous8

Genes10

Point mutations3

Autosomal7

Residues4

Lysine2

Somatic8

Glycine13

Gene mutation5

Genetic11

Tryptophan1

Substitution4

Codon5

Enzyme7

Proteins8

Alanine1

Deficiency6

Encodes5

Found19

Phenotypes1

Methylation1

Amino acid arginine4

Mechanism2

MeCP28

Variants2

Chromosome2

Mitochondrial5

Glutamine1

Tumors2

Polymerase3

Isoforms3

Mammalian1

Induce2

Inactivation1

Alters1

Genomes1

Disorder1

Occur1

Recurrent1

Nitrogen2

Glioblastoma1

Results4

Proline1

Liver2

Rett1

Tumor1

Clinically2

Congenital1

Elucidate1

Single4