Function chain genes sis. Medical search. Frequent questions

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)
If the current presence of mutations in two different hereditary loci confers a phenotype (e.g. awareness to UV rays), which is equivalent to that conferred by each and every mutation by itself quantitatively, both genes are reported to be epistatic one to the other. (exposed-skin-care.net)
On the other hand, if mutations in two different genes confer additive results (e.g. elevated UV radiation awareness), they are put in various epistasis groupings 14. (exposed-skin-care.net)
Relevant large fragments of mutations and methylation abnormalities were not found in the associated genes. (spandidos-publications.com)
The data further revealed absence of 25‑bp repeat mutations at the shear mutation site of exon 1 of the small nuclear ribonucleoprotein polypeptide N gene in the subjects examined. (spandidos-publications.com)
In SM, which is the dominant means of secondary alteration of variable region gene sequences in humans and mice, mutations are introduced in the Ig variable region genes at a tremendous rate, which allows for evolution of high affinity antibodies ( 2 ). (silverchair.com)
To date, most identified mutations leading to severe FXIII deficiency and a bleeding disorder involve subunit A, with very few mutations reported involving subunit B. The gene for subunit A is located on chromosome 6 bands p24-25. (medscape.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)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
OBJECTIVE: To carry out carrier screening for Spinal muscular atrophy (SMA) in reproductive-aged individuals from Dongguan region and determine the carrier frequency of SMN1 gene mutations. (bvsalud.org)
INTRODUCTION: Though an increase in Hb A2 is one of the most key markers of ß-thal carriers, a few independent cases are reported to show elevated Hb A2 levels caused by mutations in other genes beyond ß-globin gene. (bvsalud.org)
Globin and KLF1 genes analysis was performed, and further whole-exome sequencing was carried to dissect the genetic causes of those positive samples without ß-thalassemic or KLF1 mutations. (bvsalud.org)
Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)

In contrast to yeast and vertebrates, which have only two RAD21/REC8 genes, the rice genome encodes four Rad21/Rec8 proteins. (jipb.net)
Repeat associated mechanisms of genome evolution and function revealed by the. (earlham.ac.uk)
Next generation sequencing (NGS) technologies enable rapid and cheap genome-wide transcriptome analysis, providing vital information about gene structure, transcript expression. (earlham.ac.uk)
Genome imprinting is an epigenetic marking mechanism that causes genes to be expressed in a parental-origin-specific manner. (bmj.com)
supports the concept that metabolic reprogramming, inflammation, and genome instability (including epige- netic changes) underlie many of the other hal marks and foster multiple hallmark functions. (who.int)

This gene encodes a member of the U-box ubiquitin ligase family. (nih.gov)
gene which encodes -(1,3)-galactosyltransferase activity (GT31 family) for AGPs, resulted in abnormal primexine development (Suzuki et al. (exposed-skin-care.net)
The human UBE3A gene encodes an E3 ubiquitin ligase, which exhibits three known protein subtypes ( 1 , 8 ). (spandidos-publications.com)

The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. (nih.gov)
The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis. (hindawi.com)
Reducing equivalents produced in the Krebs cycle and in the beta-oxidation spirals are passed along a series of protein complexes embedded in the inner mitochondrial membrane (the electron transport chain). (medlink.com)
To generate energy efficiently, the cell is uniquely challenged to co-ordinate the abundance of electron transport chain protein subunits expressed from both nuclear and. (earlham.ac.uk)
Among the various genetic metabolic disorders, Angelman syndrome (AS) has attracted considerable attention due to the abnormal expression of the ubiquitin-protein ligase E3A (UBE3A) gene ( 1 ). (spandidos-publications.com)
Among the top ten genes preferentially enriched in these cells, Foxc2 was the only one to code for a protein exclusively present in the nucleus of uSPGs that also expressed ZBTB16, a protein important for SSCs to self-renew. (elifesciences.org)
Non-synonymous vs. synonymous substitution rate ratios suggested purifying selection to act on specifier protein genes. (biomedcentral.com)
Background ZNF597 , encoding a zinc-finger protein, is the human-specific maternally expressed imprinted gene located on 16p13.3. (bmj.com)
Protein of unknown function (DUF520) [Interproscan]. (ntu.edu.sg)

The loss of the expression of the maternal allele of the UBE3A gene is typically associated with the four following mechanisms: Deletion at the 15q11.2-q13 locus, UBE3A functional loss variation, presence of paternal parthenogenetic double chromosome or genomic imprinting defect ( 4 ). (spandidos-publications.com)
Genomic genes with the Rev: RNA cation and Ran: GTP and has been to begin with Statistics coalescing missing of the RRE-Rev-CRM1-RanGTP pair to the AIM2 tunnel and the lipid of the export across the inflammatory interaction evolution. (evakoch.com)

The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy. (molvis.org)
DNA was extracted from the blood and subjected to mutation analysis by sequencing of the PIKFYVE gene. (molvis.org)
Sequence analysis revealed that the patient has a heterozygous c.4166_4169delAAGT mutation located at exon 24 of the PIKFYVE gene that may cause p.Glu1389AspfsX16 flame-shift mutation, which has never before been reported for FCD. (molvis.org)
In this study, we report a case of FCD bearing a heterozygous flame-shift mutation within the phosphoinositide kinase, FYVE finger containing ( PIKFYVE ) gene. (molvis.org)
A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. (hindawi.com)
74-88) shows that mutation of an ATP Binding Cassette (ABC) transporter gene, WBC27, in arabidopsis led to reduced sporopollenin autofluorescence in pollen grains, as compared with the strong autofluorescence in wild-type pollen grains (cover picture). (jipb.net)
However, no records of the exact site of mutation in the eldest sister were available. (biomedcentral.com)
Later in B cell development, usually after antigen-dependent activation of B cells, the genetic alteration processes of somatic mutation (SM), class switch recombination (CSR), and gene conversion further diversify the antigen-recognition repertoire as well as the effector function of encoded antibodies. (silverchair.com)

Viral replication was assayed by real- ily Dicistroviridae (closely related to Picornaviridae ), time reverse transcription-polymerase chain reaction using genus Cripavirus (8,9). (cdc.gov)
Reverse transcription quantitative polymerase chain reaction and Western blot analyses further confirmed that the expression of osteogenic-specific genes and major matrix components were up-regulated. (researchgate.net)
Semi-quantitative reverse transcription-polymerase chain reaction revealed OsRAD21-2 preferentially expressed in premeiotic flowers. (jipb.net)
polymerase chain reaction (PCR) testing also was positive for type B toxin gene. (cdc.gov)
Using Oligo software, Kuwait identified as KCS type 1 showed version 3.4, 3 polymerase chain reaction that they fulfilled the criteria for SSS, and (PCR) primer sets to amplify exons 2, 3, and might be considered as such. (who.int)

An in vitro Sister Chromatid Exchange Assay was performed with Castor oil (CAS No. 8001-79-4) in Chinese hamster Ovary (CHO) cells (Irwin, NTP report 1992). (europa.eu)
Rad21 and its meiotic counterpart Rec8, the key components of the cohesin complex, are essential for sister chromatid cohesion and chromosome segregation in mitosis and meiosis, respectively. (jipb.net)
PCNA recruits cohesin loader Scc2 to ensure sister chromatid cohesion. (ifom.eu)

Now, a variety of genes that cause mitochondrial disease have been discovered. (medlink.com)
The role of pyrophosphatase 2 (PPA2) in mitochondrial disease has recently emerged with the discovery of biallelic PPA2 variants that cause a partial loss of gene function (hypomorphs) within families affected by recurrent sudden cardiac death in siblings. (nature.com)

Phylogenetic information inferred from the study of homologous genes helps us to understand the evolution of genes and gene families, including the identification of ancestral. (earlham.ac.uk)
In gene conversion, the assembled variable region sequences are altered via homologous recombination using other unrearranged variable region genes or pseudogenes as templates. (silverchair.com)

Here, we show that truncation of the KRAB domain of mouse PRDM9 leads to loss of PRDM9 function and altered meiotic prophase and gametogenesis. (springer.com)
In Saccharomyces cerevisiae , meiotic DSBs preferentially occur at nucleosome-depleted regions in gene promoters (Ohta et al. (springer.com)

In addition to driving mesenchymal proliferation, PDGFs have been shown to direct the migration, differentiation and function of a variety of specialised mesenchymal and migratory cell types, both during development and in the adult animal. (wikipedia.org)

Vertebrate CTF18 and DDX11 essential function in cohesion is bypassed by preventing WAPL-mediated cohesin release. (ifom.eu)

These traits (or 'selfish' genes) are then passed to the next generation, thus increasing their chances of survival. (thehumblei.com)

Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA). (bvsalud.org)
All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)
Exons 2 (first coding exon), 3 (second cod- and Kuwait: the incidence in Saudi Ara- ing exon) and 12 of the TBCE gene were bia varies from 1:40 000 to 1:100 000 live chosen for the initial screening as they were births [ 6 ]. (who.int)

Then biochemical assays such as oxidative phosphorylation activity by respiratory chain enzymes were used to characterize enzyme disorders (eg, complex 1 or complex 3 deficiencies). (medlink.com)
The study of CylC-like enzymes will provide insights into substrate scope, mechanism and catalytic partners, and will also enable engineering these biocatalysts for similar or additional C-H activating functions. (biomedcentral.com)
While we found non-cyanobacterial homologs of these enzymes to be rare, we identified a large number of genes encoding CylC-like enzymes in publicly available cyanobacterial genomes and in our in-house culture collection of cyanobacteria. (biomedcentral.com)

Members of the evolutionarily conserved Nanos gene family are preferentially expressed in the ovaries and are known to play an important role in germ cell development, maintenance, and survival [ 24 - 30 ]. (hindawi.com)

This study aims to understand the function and mechanism of Drosophila Glycine N-acyltransferase (GLYAT) in cell invasion. (sdbonline.org)
This is the first report of reversible cardiac function impairment and left ventricular hypertrophy in a case of adult-onset MM, nocturnal hypoxia is a potential mechanism for left ventricular hypertrophy in patients with MM. (biomedcentral.com)
In some vertebrates, such as chickens and pigs, diversification of assembled Ig variable regions occurs by a gene conversion mechanism rather than SM ( 3 ). (silverchair.com)
Our findings describe a novel bone cancer pain mechanism and provide a new insight into the physiological and pathological functions of GM-CSF.It has been reported that GM-CSF plays a key role in bone cancer pain, yet the underlying mechanisms involved in GM-CSF-mediated signaling pathway in nociceptors is not fully understood. (iasp-pain.org)

The cornea is one of the most transparent and non-vascularized tissues in the human body, and several active genes [ 1 , 2 ] are thought to be involved in maintaining the homeostasis of the cornea. (molvis.org)
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. (nih.gov)
48,49 In addition, cyclic mechanical strain enhances the function and development of engineered tissues by improving the production of collagen and elastin. (researchgate.net)
In normal brain tissues, the maternal UBE3A gene is actively expressed, whereas the paternal UBE3A gene is not. (spandidos-publications.com)
In normal brain tissues, the maternally inherited UBE3A allele is actively expressed ( 7 ), while the paternally inherited UBE3A gene is not. (spandidos-publications.com)

It has been shown that in monocytes-macrophages and fibroblasts, exogenously administered PDGF stimulates chemotaxis, proliferation, and gene expression and significantly augmented the influx of inflammatory cells and fibroblasts, accelerating extracellular matrix and collagen formation and thus reducing the time for the healing process to occur. (wikipedia.org)

2021). Out of the 25 known glycosyltransferases (GTs) involved in the synthesis of type-II AGs, eight hydroxyproline-genes. (exposed-skin-care.net)
Smooth ER functions include detoxification and lipid synthesis. (5y1.org)

Downstream effects of this include regulation of gene expression and the cell cycle. (wikipedia.org)
Most of the current knowledge on gene expression and regulation during plant embryo. (earlham.ac.uk)
UBE3A is the only gene in the 15q11-q13 region that indicates biased expression from the maternal allele ( 6 ). (spandidos-publications.com)
The expression levels of these genes are tissue-specific and depend on the origin of the parent. (spandidos-publications.com)
More specifically, the lineage-tracing experiments showed that FOXC2-producing uSPGs could produce paired uSPGs that would then either divide to form two single uSPGs (including some that retained Foxc2 expression), or form chains of aligned uSPGs containing at most one FOXC2-producing cell ( Figure 1A ). (elifesciences.org)
Serial analysis of gene expression. (forextrading-madeeasy.com)
SYI-3.B.1 Environmental factors influence gene expression and can lead to phenotypic plasticity. (5y1.org)
This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)

This review charts the twists and turns on the road to developing gene drives in vertebrates. (mdpi.com)

Three Nanos homologues exist in mouse, with Nanos2 and Nanos3 functioning primarily in male germ cell development and maintaining PGCs viability, respectively [ 33 , 34 ]. (hindawi.com)
The various characteristics of AS are primarily caused by maternal allele dysfunction of the UBE3A gene and paternal imprinting ( 5 ). (spandidos-publications.com)

The UBE3A gene is located on the 15q11-q13 locus of chromosome 15. (spandidos-publications.com)
In CSR, to diversify the effector function of specific antibodies, recombination occurs within the downstream portion of the IgH locus to join variable region genes with different constant (C H ) region genes ( 4 ). (silverchair.com)

The electron transport chain consists of 4 multimeric complexes (I to IV) plus 2 small electron carriers, coenzyme Q10 (or ubiquinone) and cytochrome c . (medlink.com)

Understanding the mechanisms driving lineage-specific evolution in both primates and rodents has been hindered by the lack of sister clades with a similar phylogenetic structure. (earlham.ac.uk)
The immune system has evolved specific mechanisms to combat a potentially limitless number of foreign pathogens using a limited arsenal of Ig genes. (silverchair.com)

An in situ hybridization assay, with gene probes specific for esis proposed by Audelo-del-Valle et al. (cdc.gov)

Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (nih.gov)

Glucosinolates are amino acid-derived thioglucosides with a sulfated aldoxime moiety and variable side chains (Figure 1 A) that are present in the Brassicales [ 11 - 13 ]. (biomedcentral.com)

In addition to its effects on bone mass, GH regulates muscle mass, muscular strength, body composition, lipid and carbohydrate metabolism, and cardiac function. (medscape.com)
Patients with growth hormone deficiency (GHD) typically have hyperlipidemia, increased body fat, premature atherosclerotic plaques, delayed bone maturation, and impaired cardiac function. (medscape.com)
Here we report a case of MM which presented with reversible cardiac function impairment and left ventricular hypertrophy. (biomedcentral.com)

Biochim Biophys Acta Gene Regul Mech, 2023 Jun. (nih.gov)

1) Chromatographic separation revealed that the bulk (85%) of the mitogenic activity in SSV-transformed NRK cells was not due to p28v-sis but rather two distinct endothelial cell growth factors that eluted off heparin-Sepharose between 1 and 2 M NaCl. (comparewords.com)
However, there are rare types of SCID where some T cells develop but don't function well that may not be detected by the newborn screening test. (primaryimmune.org)
To diversify the coding potential of the Ig genes, B cells undergo several processes of regulated genetic alterations. (silverchair.com)
A chain of supporting cells enclosing the axons of many neurons and forming an insulating layer called the myelin sheath. (web.id)

Our results suggest that OsRad21-2 functions in regulation of cell division and growth. (jipb.net)

Nanos was first identified in Drosophila , where it represses the translation of target mRNAs through binding to their 3′ UTR and has a conserved function in germ cell development across species. (hindawi.com)
In Drosophila, the single Nanos gene (Nos) is required for development of the abdomen as well as for germ line maintenance [ 31 , 32 ]. (hindawi.com)

Genes encoding CylC homologs are widely distributed throughout the cyanobacterial tree of life, within biosynthetic gene clusters of distinct architectures (combination of unique gene groups). (biomedcentral.com)

Fleck corneal dystrophy (FCD, Online Mendelian Inheritance in Man (OMIM) #121850) was first reported in 1957 by Francois and Neetens [ 9 ], and is one of the hereditary corneal dystrophies in which the causative genes have already been identified. (molvis.org)

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. (nih.gov)

Homologs of CylC are also found in other characterized cyanobacterial secondary metabolite biosynthetic gene clusters. (biomedcentral.com)

1%). One of the sisters had 2 successful pregnancies without product replacement (see Causes for details). (medscape.com)

In developing lymphocytes, designed DSBs are produced during physiological procedures, such as for example V(D)J recombination and immunoglobulin large chain class change recombination 1, 3. (exposed-skin-care.net)
AOXs and PUMPs exert similar physiological functions during homeothermic heat production in thermogenic plants. (jipb.net)

There was no apparent difference in return of ovarian function between the eight fresh ovarian grafts and the one frozen graft. (infertile.com)
Ovarian transplantation appears to restore ovulatory function robustly. (infertile.com)
It was remarkable, therefore, to identify a MZ twin pair in which one sister had undergone menopause for unexplained reasons at age 14 years, whereas the other, aged 24, was still fertile with three naturally conceived children, as well as normal ovulatory cycles and ovarian reserve (Silber et al. (infertile.com)

Sometimes, through nothing more than random chance, a gene mutates in an organism by which it acquires an advantage trait. (thehumblei.com)

Le pourcentage de CD44 dans les lymphocytes T périphériques était significativement plus élevé chez les patients que chez les témoins, comme détecté par la cytométrie en flux. (who.int)
En outre, il y avait une aug- mentation significative de la forme soluble du c-kit dans le sérum des patients atteints de pemphigus vulgaire actif par rapport aux témoins. (who.int)
We selected 17 patients clinically and his- is encoded by a single gene located on the tologically proven to be suffering from PV short arm of chromosome 11 [ 6 ]. (who.int)
372 In addition, abnormal CMI has also been observed in patients on hemodialy- sis. (forextrading-madeeasy.com)

HR would depend on sister chromatids as layouts, which is limited to the S/G2 stages from the cell routine 5. (exposed-skin-care.net)

2. o. that occurs during function. (theodora.com)

During Bretazenil years, almost all the reducing\edge analysis on NHEJ as well as the gathered knowledge over the function of specific NHEJ elements was predicated on typically single reduction\of\function mobile and mouse versions. (exposed-skin-care.net)

Severe combined immune deficiency (SCID) is a life-threatening primary immunodeficiency (PI), with a combined absence of T cell and B cell function. (primaryimmune.org)

The named and biochemical disorders may or may not have been caused by their initially described genetic variation, but potentially by other gene variations. (medlink.com)

HAP1 is normally a haploid cell series almost, which is the right model used to handle the influence of gene features 24, 25, 26. (exposed-skin-care.net)
This finding is consistent with the fact that many FOXC2-regulated genes are involved in cell cycle arrest. (elifesciences.org)
I can describe the structure and function of the rough/smooth ER, Golgi Apparatus and Lysosomes in a cell.AP Bio AP Bio SYI-1- Living systems are organized in a hierarchy of structural levels that interact.SYI-1.F Describe the structural features of a cell that allow organisms to capture, store, and use energySYI-1.F.2 Within the chloroplast are thylakoids and the stroma. (5y1.org)
Using Cell Cycle-Restricted Alleles to Study the Chromatin Dynamics and Functions of the Structural Maintenance of Chromosomes (SMC) Complexes In Vivo. (ifom.eu)

For genetic analysis, peripheral blood was obtained from the patient and her sister. (molvis.org)
He had a family history of MM. His eldest sister was diagnosed with MM based on histochemical analysis of skeletal muscle biopsy. (biomedcentral.com)

In the contemporary literature, there is a paucity of reports on cardiac structure and function in this rare disease. (biomedcentral.com)
The cardiac structure and function were restored at 1-month follow-up. (biomedcentral.com)
SYI 1.B.2 Structure and function of polymers are derived from the way their monomers are assembled, d. (5y1.org)

It was interesting to note that her 15‑year‑old sister exhibited similar clinical manifestations to those of AS. (spandidos-publications.com)

The phosphoinositide kinase, FYVE finger containing ( PIKFYVE ) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). (molvis.org)
The multiplex ligation‑dependent probe amplification project of the Angel/chubby and copy number variation (CNV) sequencing were assessed concomitantly to identify the pathogenic genes responsible for the development of AS. (spandidos-publications.com)

ITCH Phosphorylation p39 loss-of-function MAP2K1( visually activated as MEK1) is a single proneurotrophin and size concept binding that is and appears MAPK3( ERK1)( Ohren et al. (evakoch.com)

2017). Furthermore, CRISPR/Cas9 mutants in the genes (GT14 family), which encode GlcA transferase activity for AGPs, produced plants having reduced yields due to the intine and exine defects in the mature pollen grains (Zhang et al. (exposed-skin-care.net)

Anatomy27

Organisms14

Diseases21

Chemicals and Drugs88

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Phenomena and Processes87

Disciplines and Occupations1

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Information Science4

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Protein9

Genomic2

Mutation8

Polymerase5

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Cohesin1

Traits1

Exon3

Enzymes3

Preferentially expressed1

Mechanism4

Tissues5

Fibroblasts1

Synthesis2

Expression8

Vertebrates1

Primarily2

Locus2

Electron trans1

Mechanisms2

Assay1

Transcript1

Side chains1

Cardiac function3

20231

Cells4

Regulation1

Drosophila2

Distinct1

Inheritance1

Variants1

Secondary1

Pregnancies1

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Ovarian3

Organism1

Patients4

Depend1

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Cell4

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