Chromosomal regions diseases gene contains trinucleotide repeat expansion. Medical search. Frequent questions

point stop mutations), hemophilia ( A , B ), phenylketonuria -PKU (point mutation), Duchenne muscular dystrophy (DMD) , adenosine deaminase (ADA) deficiency causing severe combined immune deficiency (SCID), Tay-Sachs disease (hexosaminidase A deficiency). (dorak.info)
3 Expanded alleles are thought to result in low or absent frataxin levels while point mutations cause single amino acid changes in the C terminal region of the frataxin protein, possibly resulting in a loss of function. (bmj.com)
Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. (biomedcentral.com)
Mutations in the C9orf72 gene are responsible for 30-40% of familial ALS cases in the United States and Europe. (medscape.com)
Genetic disorders result from new or inherited gene mutations . (amboss.com)
In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
Mutations affecting these genes leads to a higher risk of developing breast and/or ovarian cancer. (frontlinegenomics.com)
Mutations of the CFTR gene result in cystic fibrosis which leads to thickened mucus in the lungs and frequent respiratory infections. (frontlinegenomics.com)

Nelson's molecular techniques led to the development of genome mapping and sequencing and discovery of disease genes, contributing efforts to map and sequence of the human X chromosome. (wikipedia.org)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
In yet another example of a phenotypic link to a chromosomal anomaly, in humans, the duplication of part or all of chromosome 21 has been associated with Down syndrome . (nature.com)
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. (bmj.com)
The underlying defect is a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9 with 90% of those studied being homozygous for expanded alleles and over half of the remaining patients being compound heterozygotes, carrying one allele with a repeat expansion and the other with a point mutation. (bmj.com)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)
A contig is a group of cloned pieces of DNA representing overlapping regions of a particular chromosome. (frontlinegenomics.com)
Huntington's disease (HD) is an autosomal dominant disorder caused by an expanded CAG repeat (greater than 38) on the short arm of chromosome 4, resulting in loss and dysfunction of neurons in the neostriatum and cortex, leading to cognitive decline, motor dysfunction, and death, typically occurring 15 to 20 years after the onset of motor symptoms. (biomedcentral.com)
The underlying pathology of HD is initiated when the gene that codes for the huntingtin (htt) protein, located on the short arm of chromosome 4, contains an increased number of CAG repeats [ 1 ]. (biomedcentral.com)

Their findings in FMR1 explained the unusual inheritance in Fragile X syndrome and provided the principles for all subsequent unstable repeat disorders such as myotonic dystrophy, Huntington's disease, and amyotrophic lateral sclerosis. (wikipedia.org)
Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)
HSP, also known as familial spastic paraplegias or Strumpell-Lorrain disease, comprises a clinically and genetically heterogeneous group of hereditary disorders characterized by slowly progressive spastic paraparesis. (medscape.com)
Chromosomal microarray (CMA) is the recommended first-tier diagnostic test for patients with developmental delay (DD), intellectual disability (ID), or autism spectrum disorders (ASDs) of unknown etiology. (arupconsult.com)
Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)
Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)
Recent evidence suggests that PTSD may be a risk factor for the development of subsequent neurodegenerative disorders, including Alzheimer's dementia and Parkinson's disease. (preprints.org)

With a group of international collaborators, Nelson's research group was able to identify a recurrent, homology-driven deletion in the NEMO gene in Incontinentia pigmenti (IP), an X-linked genetic disease. (wikipedia.org)
Copy number variations (CNVs) have been linked to dozens of human diseases, but can they also represent the genetic variation that was so essential to our evolution? (nature.com)
As the technology evolves and test costs decline, whole genome sequencing (WGS), which can assess genetic sequences of nuclear and mitochondrial DNA and copy number variants (CNVs), or whole exome sequencing (WES), which can assess genetic sequences of the coding region of nuclear genes, but usually does not cover mitochondrial DNA and does not consistently identify CNVs, in combination with CMA, may become first-line testing for these conditions. (arupconsult.com)
These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
The differential diagnosis for the patient may include both genetic and non-genetic possibilities (for example, ataxia, dementia, and Parkinson disease). (medlink.com)
The natural populations from China with specific genetic characteristics enriched the gene pools of global A. thaliana collections. (biomedcentral.com)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
A prenatal diagnostic procedure in which a small amount of amniotic fluid is extracted from the amniotic sac surrounding the developing fetus to obtain information about genetic conditions, chromosomal abnormalities and fetal well-being. (frontlinegenomics.com)
In contrast, international collection of detailed phenotypes lags behind the collection of genetic data because only a minority of rare chromosomal aberration cases are submitted to international databases like DECIPHER ( https://www.deciphergenomics.org ), and case reporting relies on health professionals having the time and willingness to submit information. (biomedcentral.com)
Genetic techniques help study genes, diseases and related mechanisms. (geneticeducation.co.in)
genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)

Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)
We searched the expressed sequence tag databank for reiterated trinucleotides and selected EST00493 (D2S196E) with 14 tandem ACA triplets as a potentially polymorphic locus. (scite.ai)

DNA analysis of the FRATAXIN gene in the patient showed that the GAA expansion was present in one allele but not the other, while her mother was negative for the GAA expansion in both alleles. (bmj.com)
One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. (biomedcentral.com)
Size variation was readily detected, with four common alleles containing 12-15 repeats. (scite.ai)
In a population of 250 individuals , there will be a total of 500 gene copies (all individuals carry two alleles of a gene ). (amboss.com)
2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
multiple alleles at qtl allow the examination of interaction among alleles at qtl (deviation from additive gene action). (liverpool.ac.uk)

2006). Perhaps the best-defined and most widely known CNVs are the trinucleotide repeats (TNRs), which consist of three nucleotides repeating in tandem. (nature.com)
Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
of tandem repeats within their genomes [6, 17]. (scirp.org)

During the past several years, hundreds of new variations in repetitive regions of DNA have been identified, leading researchers to believe that copy number variations (CNVs) are as important a component of genomic diversity as single nucleotide polymorphisms (SNPs). (nature.com)
In this study, we identified abundant genomic SVs in the Panax genus that are hypothesized to have occurred through during the repeated polyploidizations/(re)diploidizations. (bvsalud.org)
two genes preferentially expressed in differentiating xylem of loblolly pine (pinus taeda l.) were cloned from cdna and genomic libraries and designated ptx3h6 and ptx14a9. (liverpool.ac.uk)

Long expansions of transcribed trinucleotide microsatellites have been etiologically associated with some neurological diseases. (scite.ai)

While special types of probes for larger chromosomal alteration are a few thousand nucleotides long. (geneticeducation.co.in)

Chromosomal microarray (CMA, also referred to as cytogenomic single nucleotide polymorphism [SNP] microarray) is the recommended first-line test for DD/ID or ASD of unknown etiology. (arupconsult.com)

Nelson contributed to the human, mouse and fly reference sequences and was a co-discoverer of the mutation that causes Fragile X syndrome as an expansion of a trinucleotide repeat in the FMR1 gene. (wikipedia.org)
Worldwide, approximately 20% of cases of familial ALS are due to a mutation in the Cu/Zn superoxide dismutase-1 gene ( SOD1 ). (medscape.com)
Indeed, mutation detection enhancement gel electrophoresis of mixed PCR products from cloned haplotypes revealed 24 distinct heteroduplex patterns for the six possible trinucleotide heterozygotes. (scite.ai)
from the mutation of a single gene. (scirp.org)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
Suppose we wish to know if a gene is present in the sample or not or does it contain some deletion or mutation. (geneticeducation.co.in)

MLPA proves to be an efficient method to screen for chromosomal abnormalities. (biomedcentral.com)

The lilli gene encodes a nuclear protein related to the AF4/FMR2 family. (sdbonline.org)
The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
The cystic fibrosis transmembrane conductance regulator ( CFTR ) gene encodes for an ATP-binding cassette (ABC) transporter-class ion channel. (frontlinegenomics.com)

Our genome-wide comparisons demonstrated that although these polyploidization-derived SVs have evolved at distinct evolutionary stages, a large number of SV-intersecting genes showed enrichment in functionally important pathways related to secondary metabolites, photosynthesis and basic cellular activities. (bvsalud.org)
Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)

TNRs exhibit dynamic expansion and contraction in a number of disease states, such as fragile X syndrome and Huntington's disease, with the number of repeats varying in both normal and afflicted individuals. (nature.com)
Huntington's disease (HD) is an autosomal dominant disorder caused by an expanded and unstable CAG trinucleotide repeat that results in a progressive degeneration of neurons, primarily in the putamen, caudate nucleus, and cerebral cortex. (biomedcentral.com)

Exome sequencing is a laboratory test designed to identify and analyze the sequence of all protein-coding nuclear genes in the genome. (nih.gov)
Epigenetic regulation of gene expression encompasses mechanisms that allow regulating the expression of the genes without modification of the DNA sequence. (amboss.com)
DNA probes carry the information which we use to study a target sequence or gene. (geneticeducation.co.in)
DNA probes are short, single-stranded and labeled complementary oligonucleotide sequences used to hybridize with the target gene or sequence. (geneticeducation.co.in)

More recently, both aneuploidy and chromosomal translocations have been causally implicated in human cancers . (nature.com)
Translocations between MLL (a human trithorax -related gene) and AF4 or AF5q31 are involved in acute lymphoblastic leukemia (Wittwer, 2001, Tang, 2001 and Su, 2001). (sdbonline.org)

In this previous study, 87 patients had a chromosomal abnormality, five of whom expressed fragile sites on Xq27.3. (wjgnet.com)

By studying humans, mice, flies and yeast Nelson's research group has characterized the origins of instability in the repeat, the consequences of "premutation" length expansions, and the function of FMR1 and related FXR1 and FXR2. (wikipedia.org)

Our survey found cytogenetically visible chromosomal anomalies in ~7.4% (129/1749) of autistic patients documented as well as several sub-microscopic variants. (neurotransmitter.net)

An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease. (lookformedical.com)

Nelson and other collaborators at BMC, Emory University, and Erasmus University Rotterdam identified a massive expansion of CGG repeat (Trinucleotide repeat disorder) in FMR1. (wikipedia.org)
Their research results are being used in research to define the role of FMR1 in development and potential treatment for these diseases in adulthood. (wikipedia.org)
The usual cause of the fragile X syndrome is an expanded (CGG)n repeat in the 5-prime noncoding region of the FMR1 gene. (coriell.org)
Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)

In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
CRISPR stands for clustered regularly interspaced short palindromic repeats and Cas9 stands for CRISPR-associated protein 9. (frontlinegenomics.com)
lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)

Sequencing of their polymerase chain reaction (PCR) products revealed a G-->A transition immediately preceding the trinucleotide repeats, hence defining 8 distinct haplotypes and 36 possible genotypes. (scite.ai)
In another study, the trnL - trnF cpDNA intergenic spacer region of 475 individuals from 167 A. thaliana populations in its native range was sequenced and 16 haplotypes were identified [ 8 ]. (biomedcentral.com)

MLPA showed two subjects with typical ASD-associated interstitial duplications of the 15q11-q13 PWA region of maternal origin. (biomedcentral.com)

These insertions, deletions, inversions, and duplications result in changes in the physical arrangement of genes on chromosomes. (nature.com)
Methylation-sensitive MLPA was used to characterize individuals with duplications in the Prader-Willi/Angelman (PWA) region. (biomedcentral.com)
Two additional subjects showed smaller, de novo duplications of the PWA region that had not been previously characterized. (biomedcentral.com)
Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)
In addition, two subjects showed duplications of the 22q11/DiGeorge syndrome region. (biomedcentral.com)

This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. (neurotransmitter.net)

in contrast to simple family structures reported for a variety of angiosperm nsltp genes, the putative pine nsltp gene is a member of a complex family. (liverpool.ac.uk)
ptx3h6 contains a putative signal peptide, a threonine-rich region, a proline-rich region, and a hydrophobic tail. (liverpool.ac.uk)

Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)

DNA analysis was negative for the autosomal dominant spinocerebellar ataxia genes of types 1, 2, 3, and 6. (bmj.com)
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. (nih.gov)

These results suggest that transcriptional elongation control is especially important for rapidly expressed genes to support digestion and metabolism, many of which have sex-biased function. (sdbonline.org)
In this study, mesenchymal stem cells isolated from the bone-marrow of mice (BM MSCs), were labeled with Hoechst after low (3 to 8) or high (40 to 50) numbers of passages and then transplanted intrastriatally into 5-week-old R6/2 mice, which carries the N-terminal fragment of the human HD gene (145 to 155 repeats) and rapidly develops symptoms analogous to the human form of the disease. (biomedcentral.com)

Indeed, for as long as cytogeneticists have studied chromosomes under microscopes, they have observed variations in chromosomal structure. (nature.com)
A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)

ALS, also known as Lou Gehrig disease, is the most common neurodegenerative disease of adult onset involving the motor neuron system. (medscape.com)

Two subjects showed partial duplication of the TM4SF2 gene on Xp11.4, previously implicated in X-linked non-specific mental retardation, but in our subsequent analyses such variants were also found in controls. (biomedcentral.com)
Comprising only 1%-2% of the human genome, the exome nonetheless contains the majority of currently recognized disease-causing variants. (nih.gov)

Leber hereditary optic neuropathy (LHON), neurologically-associated retinitis pigmentosa (NARP), myoclonic epilepsy and ragged red-fiber disease (MERRF), maternally inherited myopathy and cardiomyopathy (MMC) (See Taylor & Turnbull, 2005 ). (dorak.info)
they include both sporadic and hereditary diseases. (medscape.com)
However, how lncRNAs contribute to the development of hereditary diseases in human is still mostly unknown. (biomedcentral.com)
This review is focused on hereditary diseases in the pathogenesis of which long non-coding RNAs play an important role. (biomedcentral.com)
Future research will help translate this knowledge into clinical practice which will not only lead to an increase in the diagnostic rate but also in the future can help with the development of etiotropic treatments for hereditary diseases. (biomedcentral.com)

In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
Prior to the development of massively parallel sequencing (also known as next-generation sequencing ), the only cost-effective way to test more than one gene was serial single-gene testing (i.e., complete testing of one gene that might account for the phenotype before proceeding to testing of the next gene) ‒ an expensive and time-consuming approach with a potentially low yield. (nih.gov)

It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)

Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
Eight hundred fifty-eight differential methylation regions (DMRs) were found in relatively high TMB group. (biomedcentral.com)
control of cad gene expression could involve either differential regulation of more than one cad gene or, alternatively combinatorial regulation of a single cad gene. (liverpool.ac.uk)

This research is an extension of a previously reported study on the identification of chromosomal aberrations in a large cohort of 527 Indonesians with intellectual disability (ID). (wjgnet.com)

Models developed by Nelson's research group have improved the understanding of mechanisms of this disease, including a role for RNA-binding functions such as TDP-43 and alterations in 5-Hydroxymethylcytosine. (wikipedia.org)

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)

G-quadraplexes play key roles in a number of other diseases like ALS, Fragile X syndrome, Fanconi's anemia and Friedrich's ataxia. (anti-agingfirewalls.com)

In an investigation on the maternal origins of A. suecica , 12 cpDNA regions were sequenced for 25 A. thaliana accessions, which were mainly collected from Scandinavia [ 25 ]. (biomedcentral.com)

We now know those structures are very relevant to many critical biological processes like gene regulation, expression of telomerase and telomere maintenance, understanding of growth/oncogenes like C-myc, understanding of organismic development, comprehension of certain enigmatic diseases like ALS and possible new cancer treatments. (anti-agingfirewalls.com)

These populations originated from a common ancestor, and a rapid demographic expansion began approximately 90,000 years ago. (biomedcentral.com)

Nelson's research group has used flies and mice to identify and characterize modifiers that showed that the CGG repeat is necessary and sufficient to affect mammalian neurons. (wikipedia.org)

In adolescence and adulthood, liver disease becomes less prominent. (nih.gov)

Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
xylem-specific gene expression in loblolly pine. (liverpool.ac.uk)
We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)
Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)

Because they are inherited through families, increased copy numbers typically correlate with greater disease severity and/or earlier onset of symptoms. (nature.com)

Nelson has served in many advisory boards and committees, including FRAXA Research Foundation Advisory Board (1999-present), National Fragile X Foundation Advisory Board (1999-present), March of Dimes Grants Review Board (2010-2015), Hungtinton Disease Society of America Steering Committee (1999-2010), United States NIH/NICHD Mental Retardation Review Committee (1998-2002), and US DOE Joint Genome Institute Advisory Board (1997-2000). (wikipedia.org)

Nelson's work using introduced selectable genes expanded approaches to whole human genome mapping. (wikipedia.org)
Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)
Thousands of long non-coding RNA (lncRNA) genes are annotated in the human genome. (biomedcentral.com)
According to the GENCODE project one third of all human lncRNAs genes are primate-specific [ 4 ]. (biomedcentral.com)
The R6/2 mouse model of HD expresses the N-terminal portion of human htt, containing a highly expanded glutamine repeat (145 to 155). (biomedcentral.com)

The project involved sequencing whole genomes of NHS patients, focussing on rare diseases, some common cancer types and infectious diseases. (frontlinegenomics.com)

Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. (lookformedical.com)
Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. (lookformedical.com)

Anatomy5

Organisms2

Diseases21

Chemicals and Drugs17

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Psychiatry and Psychology2

Phenomena and Processes41

Information Science3

Health Care2

Mutations11

Chromosome11

Disorders9

Genetic11

Locus3

Alleles6

Tandem3

Genomic3

Microsatellites1

Nucleotides1

Microarray1

Mutation6

Abnormalities1

Encodes3

Genome-wide2

Huntington's2

Sequence4

Translocations2

Xq27.31

Instability1

Anomalies1

Autosomal recessive1

FMR14

Protein4

Haplotypes2

15q11-q131

Duplications5

Loci1

Putative2

Nucleotide1

Spinocerebellar2

Rapidly2

Chromosomes2

Neurodegenerative1

Variants2

Hereditary5

Phenotype2

Lethal1

Differential3

Identification1

Mechanisms1

Mitochondrial1

Ataxia1

Investigation1

Telomerase1

Populations1

Neurons1

Adulthood1

Expression6

Symptoms1

20001

Human5

Rare diseases1

Single-stranded2