Protein chromosomes human 13 15. Medical search. Frequent questions

Due to an unusual mechanism called genetic imprinting, the genes affecting PWS are active only on the paternal chromosome. (fpwr.org)
Therefore if these genes get deleted from the paternal chromosome, there are no active copies of these genes remaining in the brain. (fpwr.org)
The genes are intact on the maternal chromosome, but are not active. (fpwr.org)
Here we propose a way to activate the genes on the maternal chromosome. (fpwr.org)
My lab has actually been engineering special proteins designed to turn off these genes, as a method to treat a related disorder called Angelman syndrome. (fpwr.org)
However, by reconfiguring these proteins to activate the genes rather than repress them, we hypothesize that we can activate the inactive but otherwise normal genes on the maternal chromosome. (fpwr.org)
This involves silencing genes, blocking their production of RNA and protein. (doctorsaredangerous.com)
Genes contributing to the similarity include ribosomal protein (RP) genes as well as genes involved in transcription, translation and cell division. (karger.com)
Bortoluzzi S, Alessi FD, Romualdi C, Danieli GA: Differential expression of genes coding for ribosomal proteins in different human tissues. (karger.com)
Of particular biological significance, the short arms of acrocentric chromosomes contain the genes required for the synthesis of ribosomes and ribosomal RNA. (stowers.org)
2006). Abacavir The 1q21 locus includes a disproportionate variety of human-specific genes (OBleness et al. (exposed-skin-care.net)
2014). In the modified set up this locus harbors three human-specific NOTCH2-produced genes we contact genes within the last few LRCH1 million years after divergence from chimpanzeeshumans obtained brand-new, secreted NOTCH-like proteins that may enhance Notch signaling and could prolong cortical neurogenesis by delaying differentiation of neural progenitors. (exposed-skin-care.net)
Our data recommend the introduction of genes in human beings may have added to the upsurge in size and intricacy of the individual neocortex at the trouble of susceptibility to 1q21.1 distal duplication/deletion symptoms. (exposed-skin-care.net)
2017). Open up in another window Body 1 is situated in a neurodevelopmental disease locus and displays adjustable gene and proteins features(A) Area of NOTCH2NL genes (crimson) and extra genes produced from individual segmental duplication (light blue). (exposed-skin-care.net)
For the most part, in this way we identified a series of protein-non-coding genes, but also some protein-coding ones. (vechnayamolodost.ru)
Thus, about 100 human "twin genes", were found in the Arabidopsis genome, including, those responsible for such severe diseases as cystic, ﬁbrosis and breast cancer [50]. (centrocardiobogota.com)
With the human DNA probe, signals were detected in the major sites of the ribosomal genes on chromosomes 5I (7H) and 6I (6H) only when the chromosome preparations were obtained using an optimized technique with obligatory pepsin treatment followed by hybridization. (centrocardiobogota.com)
As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)

citation needed] The UBE3A gene lies within the human chromosomal region 15q11-13. (wikipedia.org)
PWS is caused by the loss of a region of human chromosome 15q11-13. (fpwr.org)
Here we report alterations in motor behaviour and cerebellar synaptic plasticity in a mouse model (patDp/+) for the human 15q11-13 duplication, one of the most frequently observed genetic aberrations in autism. (nature.com)
To examine which cerebellar synaptic alterations might contribute to motor deficits in autism, we studied cerebellar synaptic function and plasticity as well as motor coordination and learning in a mouse model for the human 15q11-13 duplication. (nature.com)

However, a comprehensive genome-wide map of human S/MARs is yet not available. (researchgate.net)
Toward this objective, ChIP-Seq data of 14 S/MAR binding proteins were analyzed and the binding site coordinates of these proteins were used to prepare a non-redundant S/MAR dataset of human genome. (researchgate.net)
The Human Genome Project-the complete sequencing of an individual genome-was a monumental milestone in modern biology. (stowers.org)
Adam Phillippy, Ph.D. , a collaborator at the National Human Genome Research Institute , added, "We did not anticipate this but it's a beautiful example of how curiosity and collaboration can lead to significant insights for human health. (stowers.org)
And the reason for this interview was the receipt of the most complete version of the human genome. (vechnayamolodost.ru)
The most complete human genomeRecently, an article was published in Science: The Telomere-to-telomere (T2T) consortium published the full version of the human genome. (vechnayamolodost.ru)
What exactly from the human genome have you sequenced?The role of our group's employees is to participate in the analysis of centromeric alpha-like DNA repeats. (vechnayamolodost.ru)
Most of the unread genome just belonged to centromeric regions, these are special sections of chromosomes that are necessary for cell division, and they usually consist of tandem repeating DNA sequence units. (vechnayamolodost.ru)
According to an approximate estimate, the version of the human nuclear genome, which has been constantly replenished and improved since 2001, did not contain about 8% of the genomic DNA sequence. (vechnayamolodost.ru)
results can serve as an important argument in favour of the proposal to develop a special program for sequencing the genome chromosomes and for, To estimate the possibility of plant genome mapping using human genome probes, the probes fluorescent in situ hybridization (FISH) of human 18S-28S rDNA (clon 22F9 from the LA-13NCO1 library) was carried out on chromosomes of the spring barleyHordeum vulgareL. (centrocardiobogota.com)
In this study, we performed genome analyses of more than 1,000 bifidobacterial strains publicly available revealing that Bifidobacterium adolescentis taxon might represent a model GABA producer in human gastrointestinal tract. (nature.com)
human whole-genome. (scirp.org)
random throughout the genome [7, 8, 13]. (scirp.org)
Written to communicate sound and modern science in an accessible way for professionals and students with various levels of scientific background, this new edition will contribute to creating a genetically literate research population that understands elements of the personal and health implications of studying the human genome and genetic information. (che-chandler.de)

3] "The DNA sequence of human chromosome 7. (tcdb.org)
Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. (uchicago.edu)
This is a subset of the DATASET1 obtained by clustering the protein sequences based on their sequence similarity to remove close homologues. (lu.se)
This is a subset of the DATASET 3 extracted by clustering the protein sequences based on their sequence similarity. (lu.se)

Human Molecular Genetics. (wikipedia.org)
Human Molecular Genetics , 15 (13), 2170-2182. (elsevierpure.com)
Today, human genetics is for everyone. (digibookee.com)
Once an obscure science or an occasional explanation for an odd collection of symptoms, human genetics is now part of everyday conversation. (digibookee.com)
Since then, she has taught a variety of life science courses and has authored the textbook Human Genetics: Concepts and Applications and books about gene therapy, stem cells, and scientific discovery. (digibookee.com)
Immediately after payment, you can Download ISE Human Genetics 13th Edition PDF (e-Book). (digibookee.com)
Yet, to uncover what underlies our individuality, along with our similarities, a comprehensive understanding of human genetics requires a comparative approach from diverse datasets. (stowers.org)
One such report appeared on January 26, 2001 on the, Genetics, Inc. regulating chromosome pairing in polyploid plants. (centrocardiobogota.com)
She is widely known for her research on inherited eye diseases and has published numerous chapters and research articles focused on human genetics.R. Scott Hawley (PhD, Genetics, University of Washington) is an American Cancer Society Research Professor and Investigator at the Stowers Institute for Medical Research. (che-chandler.de)
American journal of human genetics 2019 11 105 (5): 947-958. (cdc.gov)

Down syndrome is caused by an extra copy of chromosome 21. (mdpi.com)
There is one normal copy of chromosome 21 (upper center) and one with a fusion (lower left). (stowers.org)

Other abnormalities in this region of chromosome 15 can also cause Angelman syndrome. (wikipedia.org)
Robertsonian translocations are the most common type of chromosomal fusion in the human population, occurring in one in 1,000 individuals, and contribute to infertility and genomic abnormalities like those that cause Down syndrome. (stowers.org)
Because most dichorionic twin gestations are discordant for chromosome abnormalities, diagnostic testing is required to distinguish which twin is affected. (msdmanuals.com)
However, screening for sex chromosome abnormalities in twin pregnancies is usually not available. (msdmanuals.com)

Several attempts have been made toward identification of S/MARs in genomes of various organisms including human. (researchgate.net)
New research published in Nature on May 10, 2023, assembled 94 human genomes to investigate natural genetic variation between humans. (stowers.org)
The authors assembled nearly 100 complete human genomes selected from diverse geographies to enable us to understand human-to-human variations," said co-author and Investigator Jennifer Gerton, Ph.D. from the Stowers Institute for Medical Research . (stowers.org)
CA is caused by the epithelial-associated proteins found in the genomes of each subtype ( 2 , 3 ). (spandidos-publications.com)
2000). An ordered comparative map of the cattle and human genomes. (geneticsmr.com)

We present a novel and efficient non-integrating gene expression system in human embryonic stem cells (hESc) utilizing human artificial chromosomes (HAC), which behave as autonomous endogenous host chromosomes and segregate correctly during cell division. (nih.gov)

The authors termed these "pseudohomologous" regions, to indicate that although they occur on different chromosomes, during meiotic recombination, they exchange sequences with other members of the acrocentric chromosome community as if they were homologs, or true pairs. (stowers.org)
But it turned out that they are not completely homogeneous, different chromosomes differ from each other in these domains. (vechnayamolodost.ru)

We prepared two independent sets consisting of exploratory and validation samples, respectively, with only the APOE-ε3* 3 genotype, and first carried out genotyping for the exploratory set with 1206 SNPs in the region between 60 and 107 Mb on chromosome 10q that is implicated by linkage studies as containing an AD susceptibility locus. (elsevierpure.com)
These SNPs were clustered in a locus spanning 220 kb at genomic position 101 Mb, and three of the six SNPs were located in the dynamin-binding protein (DNMBP) gene. (elsevierpure.com)
35-kb pathogenicity island called locus of enterocyte efface- raw or undercooked ground meat products and raw milk (13). (cdc.gov)
2004). The gene annotated as and have a home in the 1q21.1 locus, and a fourth quite different paralog, (NOTCH2NL-Related) is situated near in the p-arm of chromosome 1. (exposed-skin-care.net)

nature structural & molecular biology Abstract In the early stages of mitosis, cohesin is released from chromosome arms but not from centromeres. (cbinsights.com)
Cohesion at centromeres is protected by Shugoshin (SGO1) 11 , 12 , 13 , 14 , giving rise to the typical X-shaped structure of human chromosomes. (cbinsights.com)
Fluorescent image of chromosomes (blue) and centromeres (cyan), illustrating a Robertsonian translocation between chromosomes 14 and 21 (red). (stowers.org)
Interestingly, my very first scientific work, my thesis, was devoted to cloning and sequencing the first fragment of a chromosome containing these alpha-like repeats of DNA centromeres. (vechnayamolodost.ru)
Centromeres in all chromosomes were considered homogeneous, consisting of identical repeats. (vechnayamolodost.ru)

J Biol Chem, 2012 Apr 13. (nih.gov)

Environ Toxicol Chem 13(10):1551-1557. (cdc.gov)

Kurz M, Brachvogel V, Matter H, Stengelin S, Thuring H, Kramer W: Insights into the bile acid transportation system: the human ileal lipid-binding protein-cholyltaurine complex and its comparison with homologous structures. (hmdb.ca)
This process, called recombination, where pairs of homologous chromosomes-one paternal and one maternal-break, and equal segments are swapped, increases genetic diversity in offspring because the chromosomes at the end of meiosis differ both from the parent and from each other. (stowers.org)
In addition, numerous important cellular proteins, such as B-cell lymphoma-2 homologous antagonist/killer, Myc proto-oncogene protein, cyclin-dependent kinase inhibitor 1B, DNA replication licensing factor MCM-7, retinoblastoma 1 and Annexin A1, are degenerated through the UBE3A-mediated ubiquitin proteasome pathway ( 7 ). (spandidos-publications.com)

Biochem Biophys Res Commun, 2020 Jan 15. (nih.gov)
ont permis la publication de plus de 370 articles et monographies, dont une 44 en 2020. (u-paris.fr)

1995 Jul 13;1257(2):199-202. (hmdb.ca)
1995 Oct 15;233(2):406-13. (hmdb.ca)

Epub 2015 Mar 15. (cancercentrum.se)

An odontogenic medium modified by the addition of recombinant human bone morphogenetic protein 2 was used in the experimental groups to induce differentiation. (scielo.br)
Expression of the L1 protein using recombinant DNA technology produces noninfectious virus-like particles (VLPs). (cdc.gov)

Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded by the UBE3A gene. (wikipedia.org)
Ubiquitin protein ligase E3A attaches a small marker protein called ubiquitin to proteins that should be degraded. (wikipedia.org)
Most of these mutations result in an abnormally short, nonfunctional version of ubiquitin protein ligase E3A. (wikipedia.org)
Like mutations within the gene, these chromosomal changes prevent any functional ubiquitin protein ligase E3A from being produced in the brain. (wikipedia.org)
The overexpression of miRNA‑375 significantly suppressed the levels of protein expression of ubiquitin‑protein ligase E3A (UBE3A) and Insulin‑like growth factor‑1 receptor (IGF‑1R) in HPV‑18(+) cervical cancer cells. (spandidos-publications.com)
E6-AP) is an important member of the ubiquitin proteasome system and a type of ubiquitin protein ligase (E3 enzyme) ( 6 ). (spandidos-publications.com)

During mitosis, cohesin is removed from chromosomes in two waves. (cbinsights.com)

Int J Cancer, 2013 Apr 15. (nih.gov)
The overexpression of miRNA‑375 significantly increased caspase‑3 and caspase‑9 activities, induced B‑cell lymphoma 2 (Bcl‑2)/Bcl‑2‑associated X protein, tumor protein 53 and cyclin‑dependent kinase inhibitor 1 protein expression and suppressed cyclin D1 and survivin protein expression in HPV‑18(+) cervical cancer cells. (spandidos-publications.com)
UBE3A is associated with cervical cancer and may combine with the E6 proto-oncogene encoded by HPV16 within cervical cancer cells to form the E6/E6-AP protein complex through the ubiquitin proteasome pathway ( 4 ). (spandidos-publications.com)
Cancer Causes Control 2009;20:1605-15. (who.int)
Endocr Relat Cancer 2008;15:485-97. (who.int)

Humans have two copies of chromosome 15, one the mother (maternal) and one from the father (paternal). (fpwr.org)

Hence, it means that human testis could also play a crucial role in human speciation if these two tissues exhibit similar gene expression patterns. (karger.com)
Determining the large scale anatomy of gene expression patterns of various human tissues could draw a more convincing conclusion, and better our understanding of the correlation/inter-correlation among different tissues. (karger.com)
Among the 17 tissues, the highest similarity in gene expression patterns was between human brain and testis, based on DDD and clustering analysis. (karger.com)
This protein controls the distribution of vitamin E obtained from the diet (also called α-tocopherol) to cells and tissues throughout the body. (medlineplus.gov)
2] "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues. (tcdb.org)
Although different stem cells, morphogens and scaffolds can be combined to simulate natural odontogenic regeneration, it is crucial to determine which options most closely replicate the characteristics of human dental tissues. (scielo.br)

Long non-coding RNAs (lncRNAs) is an important member of non-coding RNAs (ncRNAs) comprising a transcription length of more than 200 nucleotides but not coding proteins [2,3]. (researchsquare.com)
There is a rather complex structure there, and they occupy many thousands of nucleotides on chromosomes. (vechnayamolodost.ru)

Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database. (hmdb.ca)

During meiosis, a type of cell division that gives rise to sperm and eggs, genetic material can be exchanged or swapped between two paired chromosomes. (stowers.org)

Some of these mutations cause no functional protein to be made, while others change a single protein building block (amino acid) in the αTTP protein, reducing its function. (medlineplus.gov)
One TTPA gene mutation that is found in the Japanese population changes the amino acid histidine to the amino acid glutamine at position 101 in the αTTP protein (written as His101Glu or H101Q). (medlineplus.gov)
Amino acid substitutions annotated to affect protein activity were collected from the Protein Mutant Database (PMD). (lu.se)
The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions. (lu.se)

Recently several reports have cleotide (designated as 0/10 bp) in the pro- focused on the association between the moter region of the gene at position -323 factor VII of the cascade coagulation and [ 13,14 ]. (who.int)

Specific regions along the short arms of chromosomes 13, 14, 15, 21, and 22 are remarkably similar, indicating that recombination is occurring between chromosomes of mismatched pairs (for example, chromosomes 13 and 14 are exchanging information). (stowers.org)

Cellular structures called proteasomes recognize and digest proteins tagged with ubiquitin. (wikipedia.org)
7] "Lysine acetylation targets protein complexes and co-regulates major cellular functions. (tcdb.org)
However, current protocols for deriving neurons from human pluripotent stem cells give rise to heterogeneous cell populations both in regard to the temporal aspects and the cellular composition. (lu.se)

16] "Initial characterization of the human central proteome. (tcdb.org)
1998). Isolation and characterization of human cathepsin V: a major proteinase in corneal epithelium. (geneticsmr.com)

The present study aimed to identify the probable anti‑Condyloma acuminata (CA) mechanism of microRNA‑375 (miRNA‑375) in human papillomavirus (HPV). (spandidos-publications.com)

Previous data has reported similarity between human brain and testis gene expression patterns. (karger.com)
Present results provide evidence to support the proposal that human testis and brain share the highest similarity of gene expression patterns. (karger.com)
However, a definite conclusion on the clinical value of lncRNA SNHG6 expression in human cancers has not been determined. (researchsquare.com)
Conclusions High lncRNA SNHG6 expression was correlated with tumor invasion depth, LNM, DM, and advanced TNM stage, suggesting that SNHG6 may serve as a promising prognostic biomarker of human cancers. (researchsquare.com)
Moreover, evaluated SNHG6 expression has been found to be associated with clinicopathologic characteristics [10,14,15]. (researchsquare.com)
Interference with PSMB4 Expression Exerts an Anti-Tumor Effect by Decreasing the Invasion and Proliferation of Human Glioblastoma Cells. (nih.gov)
Cloning and expression of a human pro(tea)some beta-subunit cDNA: a homologue of the yeast PRE4-subunit essential for peptidylglutamyl-peptide hydrolase activity. (nih.gov)
Regulation of expression of the human fructose transporter (GLUT5) by cyclic AMP. (uchicago.edu)
The expression levels of dentin sialo-phosphoprotein (DSPP), dentin matrix protein-1 (DMP1), enamelysin/matrix metalloproteinase 20 (MMP20) and phosphate-regulating gene with homologies to endopeptidases on X chromosome (PHEX) were analysed using RT-PCR. (scielo.br)
Distribution of CD44 variant isoforms in human skin: differential expression in components of benign and malignant epithelia. (geneticsmr.com)
To elucidate the mechanism of action of ADE, we examined the protein expression through network pharmacological analysis. (bvsalud.org)

Ankyrins link integral membrane proteins to the spectrin-based membrane skeleton. (dana-farber.org)
Hereditary defects in membrane skeleton proteins. (dana-farber.org)
This indicates that AE1 and probably other integral membrane proteins have a 'lipid-anchoring' function. (dana-farber.org)

Moreover, the in silico screening of human/animal metagenomic datasets showed an intriguing association/correlation between B. adolescentis load and mental disorders such as depression and anxiety. (nature.com)

Mutations in the TTPA gene that cause no functional αTTP protein to be made are associated with a severe form of ataxia that begins at a young age. (medlineplus.gov)

Oelkers P, Dawson PA: Cloning and chromosomal localization of the human ileal lipid-binding protein. (hmdb.ca)
These assemblies revealed patterns of genetic variation across chromosome regions which were previously inaccessible, letting us answer a longstanding question about the most common kind of chromosomal abnormality in humans. (stowers.org)
gene is mapped on the wheat chromosome 5B, but, neither obtaining a physical marker nor microdissec-, tion of this chromosomal region gave practical results, [56]. (centrocardiobogota.com)

For the first time, analysis of assemblies from the Human Pangenome Reference Consortium reveals how and when specific translocations-a piece of one chromosome breaks off and attaches or fuses to another-called Robertsonian translocations, can form. (stowers.org)

Human pangenome graph of the five acrocentric chromosomes with lines representing sequences with few variations and loops representing sequences with duplications and inversions. (stowers.org)

23. What are distinct characteristics of only protein-mediated transport? (fsu.edu)

UBE3A associates with the E6 protein of certain strains of HPV. (wikipedia.org)
Since strains harbor the LEE, and it is not necessary to cause human then, STEC has been increasingly recognized as an important infection. (cdc.gov)
Moreover, STEC strains almost invariably harbor a human diarrheal pathogen and as the predominant cause of 97-kb plasmid encoding possible additional virulence traits hemorrhagic colitis and hemolytic uremic syndrome (HUS). (cdc.gov)

Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. (uchicago.edu)

Up to the present time, there is no, real success in obtaining pure fractions of individual, plant chromosomes by ﬂow sorting. (centrocardiobogota.com)

15. What is the major function of nucleic acids? (fsu.edu)
Nucleic acids research, 44(6), 2501-13. (lu.se)

Brain is the most important tissue in human speciation. (karger.com)
Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (hmdb.ca)
Upon contact with tissue ferences in FVII activity levels and in geno- factor exposed by vascular injury, FVII is type frequencies depend on the ethnic cleaved to its two-chain active form, which groups [ 15 ]. (who.int)
3. 15-cm tissue culture-treated plastic dishes. (lu.se)

Human & experimental toxicology 2018 Jan 960327118781902. (cdc.gov)

RNA codons and protein synthesis. (crossref.org)

Condyloma acuminata (CA), a common sexually transmitted disease, is caused by human papillomavirus (HPV) ( 1 ). (spandidos-publications.com)
This report summarizes the epidemiology of human papillomavirus (HPV) and associated diseases, describes the licensed HPV vaccines, provides updated data from clinical trials and postlicensure safety studies, and compiles recommendations from CDC's Advisory Committee on Immunization Practices (ACIP) for use of HPV vaccines. (cdc.gov)

Principally, STEC is trans- coli chromosome (5). (cdc.gov)

We provide detailed protocols for lentiviral transduction, neural differentiation, and subsequent analysis of human embryonic stem cells. (lu.se)
Given this, human pluripotent stem cells, such as human embryonic stem cells (hESCs) and induced pluripo- tent stem cells (hiPSCs), have become a unique cell source for study- ing early human brain development. (lu.se)

This enzyme is involved in targeting proteins for degradation within cells. (wikipedia.org)

Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells. (wikipedia.org)
Talking about the "aging" of a single-celled organism such as yeast, and drawing conclusions about the aging of multicellular organisms and humans, from events in the life of yeast, is meaningful only to people who subscribe to the Hayflick doctrine, and who deny the reality of stem cells in mammals and other complex organisms. (doctorsaredangerous.com)
The αTTP protein is also thought to transport vitamin E to nerve cells (neurons) in the brain. (medlineplus.gov)
Hemoglobin is an iron-containing respiratory protein in red blood cells that binds oxygen and then transports and releases it to cells that need oxygen. (icr.org)
Hemoglobin is an iron-containing oxygen-transport protein found in red blood cells. (icr.org)
There are 400-500 thousand dopaminergic cells within each side of the human substantia nigra pars compacta (SNpc) making them a minuscule portion of total brain mass. (frontiersin.org)
Activation of human somatostatin receptor type 2 causes inhibition of cell growth in transfected HEK293 but not in transfected CHO cells. (uchicago.edu)
Interleukin-21 (IL-21) was first identified in 2000 through screening of a cDNA library from CD3+ human T cells [ 1 ]. (intechopen.com)
The odontogenic differentiation of human dental pulp stem cells on nanofibrous poly(L-lactic acid) scaffolds in vitro and in vivo. (scielo.br)
editors Culture of human stem cells. (scielo.br)
Many existing protocols for neuronal differentiation of human pluripotent cells result in heterogeneous cell populations and unsynchronized differentiation, necessitating the development of methods for labeling specific cell populations. (lu.se)
This strategy provides a useful tool for visualization and identification of neural progeny derived from human pluripotent stem cells. (lu.se)
Although possible, these strategies are often complicated to transfer to human cells due to technical issues (9 ), and only a few successful cases have been described ( 10, 11 ). (lu.se)
Here we describe how this system can be used for human embry- onic stem cells. (lu.se)

F2 is an independent dataset, which consisted of 218 proteins with 696 disease-associated and 456 benign variations. (lu.se)

1] "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (tcdb.org)

The protection of centromeric cohesin by SGO1 maintains the sister chromatid cohesion that resists the pulling forces of microtubules until all chromosomes are attached in a bipolar manner to the mitotic spindle. (cbinsights.com)
By protecting centromeric cohesion, SGO1 thus ensures faithful chromosome segregation. (cbinsights.com)

Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a. (nih.gov)
Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. (medlineplus.gov)
Mutation of an aspartate at residue 89 in somatostatin receptor subtype 2 prevents Na+ regulation of agonist binding but does not alter receptor-G protein association. (uchicago.edu)

Anatomy66

Organisms12

Diseases29

Chemicals and Drugs28

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology1

Phenomena and Processes170

Disciplines and Occupations1

Technology, Industry, Agriculture2

Information Science4

Health Care1

Genes18

15q11-134

Genome14

Sequence4

Genetics10

Copy of chromosome 212

Abnormalities4

Genomes5

Artificial chromosomes1

Different chromosomes2

Locus4

Centromeres5

Biol Chem1

Chem1

Homologous3

20202

19952

Epub1

Recombinant2

Ubiquitin-protei6

Mitosis1

Cancer5

Paternal1

Tissues6

Nucleotides2

Metabolome Database1

Meiosis1

Amino acid4

Coagulation1

Recombination1

Cellular3

Characterization2

MicroRNA1

Expression11

Membrane3

Datasets1

Functional1

Chromosomal3

Attaches1

Sequences1

Characteristics1

Strains3

Localization1

Fractions1

Nucleic2

Tissue4

20181

Synthesis1

Papillomavirus2

Coli1

Embryonic2

Enzyme1

Cells14

Dataset1

Encodes1

Centromeric2

Mutation3