Extremely chromosomes human 4 5. Medical search. Frequent questions

Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. (cdc.gov)
The NKX2-5 gene on chromosome 5q34 consists of two exons which encode a 324 amino acid protein. (cdc.gov)

Disease genes and chromosomes: disease maps of the human genome. (wikipedia.org)

Chromosome 4 is one of the 23 pairs of chromosomes in humans. (wikipedia.org)
Chromosome 4 spans more than 193 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells. (wikipedia.org)
Chromosome 9 spans about 150 million base pairs of nucleic acids (the building blocks of DNA ) and represents between 4.0 and 4.5% of the total DNA in cells . (wikipedia.org)
Are the number of base pairs in a given chromosome same between different individuals? (stackexchange.com)
Is the number of base pairs in a particular chromosome the same in all individuals? (stackexchange.com)
For example if I take an X-chromosome from two random humans would I count exactly 155,270,560 base pairs in both cases? (stackexchange.com)
The newly added DNA sequence totals nearly 200 million base pairs , not only filling the five short arms of chromosomes that were previously vacant, but also revealing the most complex region in the genome - the highly repetitive DNA around telomeres and centromeres sequence. (medicaltrend.org)
There are over three billion letters, or base pairs, in the human genome, spread out over 23 pairs of chromosomes. (probe.org)
The three chromosomes sequenced by Department of Energy researchers contain more than 300 million base pairs, or an estimated 11 percent of the total human genome. (sciencedaily.com)
Human beings have 23 pairs of chromosomes in every cell, which makes 46 chromosomes in total. (diabetestalk.net)
The human genome has 23 pairs of chromosomes, one inherited from each of our parents. (chinmayaias.com)
Human beings have cells with 46 chromosomes -2 sex chromosomes and 22 pairs of autosomal (non-sex) chromosomes. (health.am)
The pairs of autosomal chromosomes (one from the mother and one from the father) carry basically the same information. (health.am)

Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. (wikipedia.org)

[ 1 ] Differentiation of the primitive gonad into testis is controlled by a multitude of genes, beginning with the sex-determining region on the Y chromosome (SRY), which is believed to represent the testis-determining factor. (medscape.com)

Human Molecular Genetics. (wikipedia.org)
en.wikipedia.org/wiki/Telomere Also see en.wikipedia.org/wiki/Insertion_(genetics) and en.wikipedia.org/wiki/Deletion_(genetics) . (stackexchange.com)
It is here suggested that the word "cytogenomics" should rather be used with the goal to paraphrase a new field of research in genomics and diagnostics in human genetics, with an integrative and comprehensive view. (frontiersin.org)
By surveying patterns, the comparative order and location of genetics makers along a chromosome can be inaugurated. (ganeshdiagnostic.com)
Human genetics 2002 1 110 (1): 36-40. (cdc.gov)
Journal of human genetics 2006 51 (4): 363-7. (cdc.gov)
Genetics 2023 8 9 (5): e200094. (cdc.gov)

The resulting recombinase-coated ssDNA filaments can invade the homologous chromosome dsDNA, searching for a complementary sequence (chromosome pairing), which will foster genetic material exchange. (nature.com)
This mouse carries a trisomy for a large portion of the distal region of the long arm of mouse chromosome 16 that has 60% of all human chromosome 21 homologous genes in this species. (bvsalud.org)
To track differentiating cell populations, reporter cell lines generated by homologous recombination (knock-in) or via BAC transgenes have been widely used in mouse cells (5-8 ). (lu.se)

The results of the full-length cDNA analysis of the PTPS gene showed that a total of 4 gene mutations were found. (hindawi.com)
The importance of pseudoautosomal regions is evident in the association of PAR1-specific mutations with various phenotypic consequences in humans. (biomedcentral.com)
Incontinentia pigmenti is caused by mutations in the NEMO/IKK -gamma gene, which is located on chromosome Xq28. (medscape.com)
A single mutation in NEMO/IKK -gamma involving the deletion of exons 4 through 10 accounts for most (80%) incontinentia pigmenti mutations. (medscape.com)
There are more than 15 different genetic mutations that result in decreased production of alpha globin, usually through functional deletion of 1 or more of the 4 alpha-globin genes. (medscape.com)
Somatic mutations in NKX2-5 do not represent an important aetiologic pathway in pathologic cardiac development in patients with cardiac septal defects. (cdc.gov)
Somatic mutations were identified in NXK2-5 and its molecular partners, TBX5 and GATA4 , as well as the transcription factor HEY2 in formalin fixed tissue taken from a collection of hearts with atrial septal defects (ASD), 8 ventricular septal defects (VSD), and atrioventricular canal defects (AVCD). (cdc.gov)

Brain communications 2023 10 5 (5): fcad244. (cdc.gov)

Repair of mitomycin-C-induced chromosomal aberrations was impaired in RAD51B/Rad51b-c.92delT human and mouse somatic cells in vitro and in explanted mouse bone marrow cells. (nature.com)

The tumors exhibited extensive aneuploidy (50-99 autosomes/tumor) involving whole-chromosomes, with recurrent gains of chr9 and chr20 and loss of chr7, suggesting that aneuploidy itself represents the initiating oncogenic event. (prinsesmaximacentrum.nl)
The other chromosomes are called autosomes. (diabetestalk.net)

The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)
Exfoliated buccal cells of 4-to-12 year-old children, who were on some type of dental treatment, were collected either before or after the treatment ending. (bvsalud.org)
For this reason they are not included in the daughter cells' nuclei, thus remaining in the cytoplasm of interphase cells [5, 10, 16, 35]. (bvsalud.org)
As humans get older and their cells divide over and over again, their telomeres-the protective caps on the end of chromosomes-get shorter. (time.com)
One of the more fascinating body facts is that humans can produce enough energy for cells to emit light and glow in the dark for approximately one minute. (star-planete.net)
In most of the 100 trillion cells of our body are 46 chromosomes. (probe.org)
If you laid out the DNA from all our chromosomes in each of our cells end to end, it would stretch six feet long. (probe.org)
it contains instructions for making all the protein molecules for all the different kinds of cells of the human body - neurons in the brain, red blood cells, bone tissue, liver cells, etc. (sciencedaily.com)
Furthermore ChChd3 was discovered to be considerably down-regulated in mitochondrial proteomic evaluation of the cell ARP 100 line style of familial amyotrophic lateral sclerosis expressing SOD1 mutant G93A weighed against the control cells expressing WT SOD1 (17) recommending its possible part in the pathophysiology of human being disease. (sciencepop.org)
As the cells divide, the DNA is copied with extremely high accuracy due to proteins that proofread and correct errors in the DNA. (chinmayaias.com)
If the enzyme is reawakened in these dying cells, normal human aging could be slowed, stopped or even reversed. (listverse.com)
As a retrovirus, it rewrites its own RNA into DNA to reproduce, and in turn can interact with the human chromosome, changing the mechanism of cellular division which may lead to the development of cancer cells. (rghgrant.org)
An enhanced understanding of bacterial interaction mechanisms and human cells is needed to explain the complex role this bacteria plays in cellular life cycles. (rghgrant.org)
The oxygen carrying capability of the red blood cells (RBCs) relies on hemoglobin, a tetramer protein that comprises 4 globin chains bound to the heme molecule. (medscape.com)
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)
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)
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)
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)
5. 293T cells - must never be grown to confluency. (lu.se)
The essence of MDS is damage of In the current work we examined All our patients were of the high-risk colony-forming units [4], but the defect haematopoietic stem cells of high-risk group and none of them was eligible of the haematopoietic stem cells is not MDS cases for apoptotic and anti-apop- for stem cell transplantation. (who.int)

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)
Since the autosomal chromosomes are paired, there are 2 copies of each gene. (health.am)
Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population. (cdc.gov)

In human beings the ChChd3 gene maps on chromosome 7 (7q32.3-q33) as well as the coding series from the proteins has 8 exons that may potentially generate nine splice variants. (sciencepop.org)
OTC is coded on band p21.1 of the X chromosome, where the gene contains 8 exons and spans 85 kb of DNA. (nih.gov)
This enzyme is coded on human chromosome 9, where a 63-kb gene comprising 14 exons is located. (nih.gov)

To gain insights in the etiology of SpT and into properties of the male germline, we performed whole-genome sequencing of five tumors (4/5 with matched normal tissue). (prinsesmaximacentrum.nl)
[ 5 ] A population-based study has shown that spermatocytic tumors represent about 1% of all seminomas, with an increase in incidence over the past decades. (medscape.com)
[ 5 ] In a series from Pakistan, there were 16 spermatocytic tumors and 486 classic seminomas in a 21-year span. (medscape.com)

To store this important material, DNA molecules are tightly packed around proteins called histones to make structures called chromosomes. (diabetestalk.net)
Alternatively the top GTPase dynamin-related proteins 1 (DRP1/DLP1/DNM1) (5) along with fission proteins 1 homolog (FIS1) (6) for the OM have already been well characterized as the protein in charge of mitochondrial fission. (sciencepop.org)
Proteomic research and hybridization tests determined ChChd3 as an extremely abundant proteins at synaptic membranes and in neurons of rat mind throughout the grey matter dorsal main ganglion and spinal-cord (16). (sciencepop.org)
ChChd3 can be extremely conserved in mammals with human being and mouse proteins sharing ～92% series similarity. (sciencepop.org)
Among the five dipeptide repeat proteins translated from G4C2 HRE, arginine-rich poly-PR (proline:arginine) is extremely toxic. (qxmd.com)
These chromosomes are made up of extremely long DNA molecules in combination with chromosomal proteins. (health.am)
These antigens include organic dusts containing bacteria, fungi,4 animal or plant proteins, or low-molecular-weight chemicals. (cdc.gov)

Sequencing at that time greatly advanced the study of genomics and increased our understanding of the human body and disease. (medicaltrend.org)
It was not until the birth of two new technologies that human genomics research ushered in a turning point. (medicaltrend.org)
A heritable map (also named a linkage map) indicates the comparable background of genetic factors (reflecting on the sites of genomics variants) on a chromosome. (ganeshdiagnostic.com)
There is no pill that comes close to what exercise can do," says Claude Bouchard, director of the human genomics laboratory at Pennington Biomedical Research Center in Louisiana. (time.com)

Another reality issue that's extremely annoying to liberals and progressives is chromosomal sex determination. (gopusa.com)

This review is about "molecular cytogenetics" including 1) the historical perspective of its development from cytogenetics, 2) technical aspects, 3) available probe sets, and 4) variants and applications of the basic fluorescence in situ hybridization (FISH) approach. (frontiersin.org)
The acquired single nucleotide variant load was extremely low (~0.2 per Mb), with an average of 6 (2-9) non-synonymous variants per tumor, none of which is likely to be oncogenic. (prinsesmaximacentrum.nl)

Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)

In a 2012 paper, 775 protein-encoding genes were identified on this chromosome. (wikipedia.org)
So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
The differences in the characteristics between the murine model and humans are the host receptor and the absence of knob-like structures of the P. falciparum erythrocyte membrane protein 1 (PfEMP1) (Table 2 ) [ 11 ]. (biomedcentral.com)
E7 from human papil omavirus type 16 cooperate to cancer: the European prospective investigation into doi:10.1093/carcin/bgp321 PMID:20047954 target the PDZ protein Na/H exchange regulatory cancer and nutrition study. (who.int)

Human beings have 20,000 to 25,000 genes. (diabetestalk.net)
One of the obvious advantages in the use of animal models, especially the mouse (Mus musculus), is our ability to perform scientific studies that are technically or ethically not permissible in human beings. (bvsalud.org)

Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
Researchers at the Department of Energy's Joint Genome Institute in Walnut Creek, California, have decoded in draft form the genetic information on human chromosomes 5, 16 and 19. (sciencedaily.com)
April 13, 2000 -- U.S. Secretary of Energy Bill Richardson announced today that researchers at the Department of Energy's Joint Genome Institute in Walnut Creek, California, have decoded in draft form the genetic information on human chromosomes 5, 16 and 19. (sciencedaily.com)
To date the researchers have sequenced a working draft of the three chromosomes, leaving some scattered gaps in less gene-rich areas. (sciencedaily.com)
Institute researchers will continue to improve both the completeness and accuracy of the genetic information as they produce the final sequence of the chromosomes over the next several years. (sciencedaily.com)
The information on chromosomes 5, 16 and 19 is available freely without restrictions to researchers in academia and industry through the public database, GenBank. (sciencedaily.com)

4. Data Processing Systems collection and mathematics of recombination commonness. (ganeshdiagnostic.com)
Recombination portion maybe converted to genetic map distance is regarded as a surrogate for physical distance on a chromosome. (careersfromscience.org)
PAR1 has a crucial role in ensuring proper segregation of sex chromosomes during male meiosis, exposing it to extreme recombination and mutation processes. (biomedcentral.com)
Obligate male crossovers are restricted to this physically small region during male meiosis, so recombination rates per base pair are extremely high, and the region shows high nucleotide diversity. (biomedcentral.com)
Sequence evolution of the pseudoautosomal region after the split between the avian and mammalian lineages, and leading up to extant mammalian species, involved the formation of several evolutionary strata mediated by recombination suppression between the sex chromosomes [ 18 , 19 , 20 ]. (biomedcentral.com)

Females have two of the same kind of sex chromosome (XX), whereas males have two distinct sex chromosomes (XY). (gopusa.com)

Extremely Low-Birth-Weight Infants 32. (booksca.ca)

The research, spanning three years, fills the gap left by sequencing results 20 years ago and is a major milestone in the study of the human genome. (medicaltrend.org)
The study of the human genome has a history of more than 50 years. (medicaltrend.org)
Being able to coordinate knowledge of their genomes with cellular and biological processes will certainly inform our study of the human genome and its various functions. (probe.org)

The Department of Energy began the Human Genome Project in 1986 to map and determine the complete DNA sequence of the human genome. (sciencedaily.com)

humans however are an acaudate species lacking one. (star-planete.net)
If the two species share a common ancestor, scientists should be able to figure out what happened to that chromosome. (rationalwiki.org)
In this paper we briefly review several recent lines of evidence concerning Neandertal language and speech capacity, aiming to dispel the idea-still held in some influential circles-that the Neandertals were an inarticulate not quite human species, arguing instead that they were probably not very different biologically or cognitively from us, and that their linguistic capacities were closely similar to our own 1 . (frontiersin.org)

3 Linkage Disequilibrium A major use of whole-genome marker data is usually to locate genes associated with human disease. (careersfromscience.org)

Congenital absence of the penis (aphallia), is an extremely rare anomaly caused by developmental failure of the genital tubercle. (medscape.com)
5 m/s) velocities observed in Dejerine-Sottas syndrome (DSS) and congenital hypomyelination neuropathy (CHN). (medscape.com)
2 - 4 Because of its critical role in cardiogenesis, NKX2-5 has been a prime candidate in studies to identify the genetic basis of structural congenital heart defects. (cdc.gov)

E. coli has also been modified to produce human growth hormone, human tissue plasminogen activator, and human insulin. (jonbarron.org)

Not explaining why this is true (it is a result coming from Coalescent Theory), the expected number of pairwise differences between two neutral sequences for a diploid population is $E[\pi] = 4\cdot N\cdot \mu$ (quite an impressively simple result), where $N$ is the population size (assuming panmictic population) and $\mu$ is the mutation rate for the whole sequence. (stackexchange.com)
However, there were still about 8% gaps in the sequence obtained by the Human Genome Project at that time , which contained many highly repetitive DNA sequences, which together were as long as a chromosome. (medicaltrend.org)
We investigate PAR1 evolution using population genomic datasets of extant humans, eight populations of great apes, and two archaic human genome sequences. (biomedcentral.com)

The chromosomes contain an estimated 10-15,000 genes, including those whose defects may lead to genetically linked diseases such as certain forms of kidney disease, prostate and colorectal cancer, leukemia, hypertension, diabetes and atherosclerosis. (sciencedaily.com)
Genes involved in repair of DNA damage as well as those associated with atherosclerosis and diabetes mellitus are located on chromosome 19. (sciencedaily.com)

therefore, females with incontinentia pigmenti have an extremely skewed X-inactivation pattern. (medscape.com)

However, they depend on extremely distinct data. (ganeshdiagnostic.com)
Genetic mapping darts at how genetic knowledge is shuffled between chromosomes or between distinct parts of the identical chromosome during meiosis which is defined as a division of a cell into two). (ganeshdiagnostic.com)

The most complete human genome sequence released! (medicaltrend.org)
After 2 years of hard work, they have finally uncovered the truly complete human genome sequence, from telomere to telomere, including every chromosome. (medicaltrend.org)
DNA is a polymer, a repetitive sequence of four molecules, which I will only refer to by their one-letter abbreviations, A, G, C, and T. The human genome sequence is simply the sequence of these four molecules in DNA from all our chromosomes. (probe.org)

Part II Fetal Growth and Development 5. (booksca.ca)

Targeted TPX2 increases chromosome missegregation and suppresses tumor cell growth in human prostate cancer. (separase.com)
human herd immunity against SARS-CoV-2 increases either by infection or by unprecedented mass vaccination. (bvsalud.org)

Interestingly, cytoplasmic genetic elements have been shown to have very different inheritance patterns to classic Mendelian nuclear chromosomes. (nature.com)

Is it simply the human brain resorting to flights of fancy to avoid confronting something awful? (4outof5.reviews)
The development of the human blood-CSF-brain barrier. (cdc.gov)

Chromosomes have caps of repetitive DNA called telomeres at their ends. (listverse.com)

and mammals (1 2 Evolutionarily conserved large GTPases mitofusin1 and 2 (Mfn1 and Mfn2) located on the external membrane (OM)3 (3) and optic atrophy 1 (OPA1) on the internal membrane (IM) and intermembrane space (IMS) have already been identified as essential modulators for mitochondrial fusion (4). (sciencepop.org)

2016 Sep;4(9):e609-16. (rghgrant.org)

In February of 2001, virtually every media outlet, whether TV news, newspapers, radio, Internet news services, or news magazines, was all worked up about the announcement of the completion of the Human Genome Project. (probe.org)

both clades were associated with human infection, 1 with poultry companies A and B and the other with company C. Accessory genome evolution was associated with a plasmid, phage insertions, and natural transformation. (cdc.gov)
We hypothesize that the tetO gene and a phage were inserted into the chromosome after conjugation, leaving a remnant plasmid that was lost from isolates from company C. The emergence and rapid spread of a resistant clone of C. jejuni in New Zealand, coupled with evolutionary change in the accessory genome, demonstrate the need for ongoing Campylobacter surveillance among poultry and humans. (cdc.gov)
In addition to the circular chromosome, ''C. thermocellum'' also has a plasmid which is an extrachromosomal genetic element that is not essential in affecting its lifestyle. (kenyon.edu)
Unlike the circular chromosome which is necessary for viability, the loss of the plasmid will not affect the bacteria's ability to reproduce. (kenyon.edu)

Such structures are a result of chromosome fragments or entire acentric chromosomes which are lost during a cell division. (bvsalud.org)
Until 8 weeks' gestation, the human fetus is undifferentiated sexually and contains both male (wolffian) and female (müllerian) genital structures. (medscape.com)

Disease-linked genes on this chromosome include those for colorectal cancer, basal cell carcinoma, acute myelogenous leukemia, salt-resistant hypertension and a type of dwarfism. (sciencedaily.com)

because of evolutionary constraints to maintain low point mutation rate, rare tumorigenic driver events are caused by a combination of gene imbalance mediated via whole-chromosome aneuploidy. (prinsesmaximacentrum.nl)
A famous example of this is the L-gulonolactone oxidase that synthesizes vitamin C . All simians, including humans , share one pseudogene of inactivated L-gulonolactone oxidase, but the guinea pig has a different pseudogene indicating a different mutation. (rationalwiki.org)

Rad51b c.92delT/c.92delT mice exhibited meiotic DNA repair defects due to RAD51 and HSF2BP/BMRE1 accumulation in the chromosome axes leading to a reduction in the number of crossovers. (nature.com)
Our cohort included patients with atrial septal defects (ASD, n = 13), ventricular septal defects (VSD, n = 5), and atrioventricular canal defects (AVCD, n = 10). (cdc.gov)
95% of human hearts (66 of 68 hearts had a sequence variant) with septal defects and were detected by direct sequencing. (cdc.gov)

Moreover, we suggest that present-day linguistic diversity might have been shaped by interactions with such archaic humans during modern human expansions across the world. (frontiersin.org)

Chromosome damages are widely used as biomarkers in monitoring human exposure to carcinogenic agents [8, 20, 36]. (bvsalud.org)

The ABO gene , which determines ABO blood type , is located on the long arm of this chromosome. (wikipedia.org)
In 2014, antimicrobial drug-resistant Campylobacter jejuni sequence type 6964 emerged contemporaneously in poultry from 3 supply companies in the North Island of New Zealand and as a major cause of campylobacteriosis in humans in New Zealand. (cdc.gov)
Indigo Type 3's have a dominant human Oraphim soul co-sharing the body with a Fallen Annu-Elohim Pleiadian-Nibiruian Nephilim soul that is in reverse. (soulmission.uk)
It is extremely useful to know if you are an Indigo and what Type of Indigo you are. (soulmission.uk)
including the universal presence of the characteristic Alzheimer-type pathology in the fourth decade of life and consequent increased frequency of dementia starting in the fifth decade 4,5 . (bvsalud.org)

Phe is one of the essential amino acids in the human body and metabolized via the conversion of coenzyme tetrahydrobiopterin (BH4) into tyrosine (Tyr) under the action of Phe hydroxylase (PAH) [ 6 ]. (hindawi.com)
In 1888, Heinrich W. Waldeyer introduced the name "stained body" as "chromosome" ( Waldeyer, 1888 ) for what Gregor Mendel already postulated as "Kopplungsgruppen", which refers to "linked up groups" in German ( Mendel, 1866 ). (frontiersin.org)
Other fascinating human body facts include our 2.5 million sweat pores, teeth that grow throughout life, noses and ears that continue to develop until puberty, being taller in the morning than night, an intestine which acts like an ocean wave when eating and that ear wax is actually just a form of sweat! (star-planete.net)
DNA Strand 4: Balance between our energy field and the physical body. (soulmission.uk)
Radioactive materials deposited inside the body have produced some ARS effects only in extremely rare cases. (cdc.gov)
HPV is most commonly associated with the development of cervical cancer, although it can also induce cancer in several other areas of the human body. (rghgrant.org)

Genome mapping furnished a crucial beginning point for the Human Genome Project. (ganeshdiagnostic.com)

Values of = ±0.10 for human populations are very large yet will have little chance of being detected in samples as small as = 50. (careersfromscience.org)

In 1934, Folling [ 4 ] found a large amount of phenylpyruvate in the urine of 2 siblings with neurodevelopmental delay and named the disease "phenylpyruvate urinary intellectual hypoplasia. (hindawi.com)
Penrose [ 5 ] later confirmed that the main contributor to the disease was the excessive levels of phenylalanine (Phe) in the blood, so the disease was named hyperphenylalaninaemia (HPA) and afterwards named PKU. (hindawi.com)
Prostate cancer is a complex disease that can be relatively harmless or extremely aggressive. (separase.com)
Studies have implicated genes on this chromosome in the development of breast and prostate cancer, Crohn's disease and adult polycystic kidney disease, which affects an estimated five million people worldwide. (sciencedaily.com)
Parasite and human genetic factors play important roles in malaria susceptibility and disease severity. (biomedcentral.com)

Down syndrome (DS) is a genetic disorder that results from the presence of one extra chromosome 21 in the cell nucleus (trissomy 21), and is the most frequent cause of intellectual disability of genetic origin 1 . (bvsalud.org)
99:209 -215.doi:10.1007/s11060 - 010 - 0129 -5 cell carcinoma-a population-based study in with and without cervical cancer in Tbilisi, Georgia. (who.int)

Despite recent evidence for Y chromosome introgression from humans into Neanderthals, we find that the Neanderthal PAR1 retained similarity to the Denisovan sequence. (biomedcentral.com)
Recent progress in genome assembly of the sex chromosomes and the availability of population genomic datasets have now made it possible to study divergence and diversity processes of this important region in detail. (biomedcentral.com)
It is usually assumed that modern language is a recent phenomenon, coinciding with the emergence of modern humans themselves. (frontiersin.org)

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

Gene on chromosome2

Genes and chromosomes1

Pairs13

Coding sequence1

Region on the Y chromosome1

Genetics7

Homologous3

Mutations7

20231

Somatic1

Autosomes2

Cells23

Autosomal3

Exons3

Tumors3

Proteins7

Genomics4

Chromosomal1

Variants2

Molecular1

Protein4

Beings2

Researchers6

Recombination5

Males1

Infants1

Study of the human genome3

Sequence of the human genome1

Species3

Whole-genome1

Congenital3

Tissue1

Sequences3

Diabetes2

Females1

Distinct2

Genome sequence3

Fetal Growth1

Increases2

Inheritance1

Brain2

Telomeres1

Mammals1

20161

20011

Plasmid4

Structures2

Acute myelogen1

Mutation2

Defects3

Archaic1

Widely1

Type5

Body6

Crucial1

Populations1

Disease5

Cell2

Recent3