A ring chromosome is denoted by the symbol r in human genetics and R in Drosophila genetics. Ring chromosomes may form in cells ... Although ring chromosomes are very rare, they have been found in all human chromosomes. Symptoms seen in patients carrying ring ... A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first ... "Orphanet: Ring chromosome 6 syndrome". www.orpha.net. "Orphanet: Ring chromosome 7 syndrome". www.orpha.net. "Ring chromosome 8 ...

... is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs (the building ... "Chromosome 20: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 20: ... Wikimedia Commons has media related to Human chromosome 20. National Institutes of Health. "Chromosome 20". Genetics Home ... The following is a partial list of genes on human chromosome 20. For complete list, see the link in the infobox on the right. ...

Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 3: entries, gene ... type 2 Charcot-Marie-Tooth disease Chromosome 3q duplication syndrome Coproporphyria A location on human chromosome 3 is ... The following is a partial list of genes on human chromosome 3. For complete list, see the link in the infobox on the right. ... Partial list of the genes located on p-arm (short arm) of human chromosome 3: ALAS1: aminolevulinate, delta-, synthase 1 APEH: ...

In human development, X chromosome reactivation also occurs in PGCs. In the ICM of human embryos, however, X reactivation does ... January 2017). "Human Naive Pluripotent Stem Cells Model X Chromosome Dampening and X Inactivation". Cell Stem Cell. 20 (1): 87 ... The human X chromosome contains a disproportionate number of genes associated with intellectual disability. X-linked disorders ... Beutler E, Yeh M, Fairbanks VF (January 1962). "The normal human female as a mosaic of X-chromosome activity: studies using the ...

On the human Y chromosome as well as other primate Y chromosomes, the pericentromeric and subtelomeric regions are the most ... The human Y chromosome contains the greatest proportion of duplicated sequence within the human genome at 50.4%. The majority ... The chimpanzee Y chromosome completely spans the orthologous part of the human region, and the human region is completely ... There exist three copies of this human region on the chimpanzee Y chromosome with two surrounding the Y chromosome centromere ...

The number of chromosomes and the gene locus on the chromosome is unique to each species. Humans have 23 pairs of chromosomes, ... Ring chromosome 15 (sometimes denoted as r15) is a condition that arises when chromosome 15 fuses to form a ring chromosome. ... Human Ring Chromosome Registry' in China revealed that the more frequent forms of ring chromosomes reported were 13, 15, 18, ... All human chromosomes have 2 arms - the p (short) and the q (long) arm, which are separated by the centromeres. There are two ...

Genes on human chromosome 8, All stub articles, Human chromosome 8 gene stubs). ... Human ASAH1 genome location and ASAH1 gene details page in the UCSC Genome Browser. Perry DK, Hannun YA (December 1998). "The ... Okino N, He X, Gatt S, Sandhoff K, Ito M, Schuchman EH (August 2003). "The reverse activity of human acid ceramidase". The ... Seelan RS, Qian C, Yokomizo A, Bostwick DG, Smith DI, Liu W (October 2000). "Human acid ceramidase is overexpressed but not ...

Articles with short description, Short description matches Wikidata, Genes on human chromosome 10, Proteins). ... In humans, the neuropilin 1 gene is located at 10p11.22. This is one of two human neuropilins. NRP1 is a membrane-bound ... As of 2015 there were no clinical trials ongoing or completed for EG3287 as a human cancer therapy. Soluble NRP1 has the ... NRP1 expression has been shown to be elevated in a number of human patient tumor samples, including brain, prostate, breast, ...

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, All stub articles, ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... Afadin- and alpha-actinin-binding protein is a protein that in humans is encoded by the SSX2IP gene. It has been shown that it ... Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 2006). "Phosphoproteome analysis of the human mitotic spindle". ...

Sparkes RS, Mohandas T, Sparkes MC (1983). "The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 7). ... Phosphoserine phosphatase is an enzyme that in humans is encoded by the PSPH gene. The protein encoded by this gene belongs to ... Koch GA, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB (Apr 1983). "Assignment of the human phosphoserine phosphatase gene ( ...

Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 1: entries, gene ... Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 ... The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right. ... It represents about 8% of the total DNA in human cells. It was the last completed chromosome, sequenced two decades after the ...

Genes on human chromosome 12, All stub articles, Human chromosome 12 gene stubs). ... 2002). "The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... RAB3A-interacting protein is a protein that in humans is encoded by the RAB3IP gene. GRCh38: Ensembl release 89: ...

The sex chromosome in a human egg is always an X chromosome since a female only has X sex chromosomes. In sperm, about half the ... The X-chromosome carries a larger number of genes in comparison to the Y-chromosome. In humans, X-chromosome inactivation ... A human egg contains only one set of chromosomes (23) and is a haploid. Sperm also have only one set of 23 chromosomes and are ... There are two kinds of sex chromosomes-X and Y. In humans and in almost all other mammals, females carry two X chromosomes, ...

Her works include Human Chromosomes: Structure, Behavior, Effects, a textbook on cytogenetics which is in its 4th edition. Her ... Therman, Eeva (1980). Human Chromosomes: Structure, Behavior, Effects. New York: Springer-Verlag New York. doi:10.1007/978-1- ... two rare and usually fatal genetic disorders caused by an extra copy of chromosome 13 and 18, respectively. ... multiple congenital anomalies caused by an extra chromosome". The Journal of Pediatrics. 57 (3): 338-345. doi:10.1016/S0022- ...

2007). "Cross-species chromosome painting among camel, cattle, pig and human: further insights into the putative ... When humans first domesticated camels is disputed. Dromedaries may have first been domesticated by humans in Somalia or South ... The Y is a small metacentric chromosome, while the X is a large metacentric chromosome. The hybrid camel, a hybrid between ... A 2007 study flow sorted camel chromosomes, building on the fact that camels have 37 pairs of chromosomes (2n=74), and found ...

Genes on human chromosome 17, All stub articles, Human chromosome 17 gene stubs). ... Human BCAS3 genome location and BCAS3 gene details page in the UCSC Genome Browser. Maruyama K, Sugano S (1994). "Oligo-capping ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...

The large majority of these marker chromosomes are smaller than one of the smaller human chromosomes, chromosome 20, and by ... Chromosome 15 has been observed to contribute to a high number of marker chromosomes, but the reason has not been determined. ... A marker chromosome (mar) is a small fragment of a chromosome which generally cannot be identified without specialized genomic ... Marker chromosomes typically occur in addition to the standard 46 chromosomes, making it a partial trisomy or tetrasomy ...

"Involvement of the TCL5 gene on human chromosome 1 in T-cell leukemia and melanoma". Proc Natl Acad Sci U S A. 86 (13): 5039-43 ... Genes on human chromosome 1, Transcription factors, All stub articles, Human chromosome 1 gene stubs). ... TAL1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) FactorBook TAL1 v t e (Articles ... translocation restricted to human T-cell acute leukemias disrupt the 5' part of the tal-1 gene". Oncogene. 6 (8): 1477-88. PMID ...

Genes on human chromosome 19, Cell cycle regulators, All stub articles, Human chromosome 19 gene stubs). ... CDKN2D human gene location in the UCSC Genome Browser. CDKN2D human gene details in the UCSC Genome Browser. Overview of all ... 1995). "Identification of human and mouse p19, a novel CDK4 and CDK6 inhibitor with homology to p16ink4". Mol. Cell. Biol. 15 ( ... Cyclin-dependent kinase 4 inhibitor D is an enzyme that in humans is encoded by the CDKN2D gene. The protein encoded by this ...

... some are located on the same chromosome in humans, rats, and mice. UCP1 is located on chromosomes 4, 19, and 8. UCP2 is found ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome X, CS1: long volume value ... Humans contain five different isoforms of the uncoupling proteins, and each UCP has its own function in the human body; however ... Mitochondrial uncoupling proteins play a significant role in the human genome as well as in the genomes of plants, prokaryotes ...

It is a human blood parasite responsible for visceral leishmaniasis or kala-azar, the most severe form of leishmaniasis. It ... This species has n=36 chromosomes. Depending on its host it exists in two structural variants, as follows: Amastigote form ... In humans the metacyclic promastigotes are injected by sandfly through the skin during its blood meal. When sandfly bites using ... In human cell they exist as small, spherical and unflagellated amastigote form; while they are elongated with flagellum as ...

Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ... Mutation in the TENM3/ODZ3 gene in humans has been associated with the eye condition, microphthalmia. Teneurin protein was ...

Lubs HA (May 1969). "A marker X chromosome". American Journal of Human Genetics. 21 (3): 231-244. PMC 1706424. PMID 5794013. de ... This methylation of FMR1 in chromosome band Xq27.3 is believed to result in constriction of the X chromosome which appears ' ... Most of these mRNA targets have been found to be located in the dendrites of neurons, and brain tissue from humans with FXS and ... "Monogenic diseases". Human Genomics in Global Health. World Health Organization. Archived from the original on 2012-10-20. ...

Genes on human chromosome 19, CS1: long volume value, Apolipoproteins, All stub articles, Human chromosome 19 gene stubs). ... "Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19". Human ... "The gene for human apolipoprotein CI is located 4.3 kilobases away from the apolipoprotein E gene on chromosome 19". Human ... January 1993). "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and ...

Genes on human chromosome 2, Collagens). ... 1992). "Exon/intron structure of the human alpha 3(IV) gene ... 1987). "Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of ... Turner N, Mason PJ, Brown R, Fox M, Povey S, Rees A, Pusey CD (Mar 1992). "Molecular cloning of the human Goodpasture antigen ... Murata K, Motayama T, Kotake C (1986). "Collagen types in various layers of the human aorta and their changes with the ...

Genes on human chromosome 1, Proteins, Genetics). ... Human PGLYRP3 C-terminal PGRP domain, similar to PGLYRP1, has ... Subsequently, the Human Genome Organization Gene Nomenclature Committee changed the gene symbols of PGRP-S, PGRP-L, PGRP-Iα, ... Human PGLYRP3 has synergistic bactericidal activity with antibacterial peptides. PGLYRP3 plays a limited role in host defense ... December 2003). "Human peptidoglycan recognition protein-L is an N-acetylmuramoyl-L-alanine amidase". The Journal of Biological ...

Articles with short description, Short description matches Wikidata, Genes on human chromosome 22, Wikipedia articles ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... "Short segment of human melanin-concentrating hormone that is sufficient for full activation of human melanin-concentrating ... high potency peptide agonist of human melanin-concentrating hormone action at human melanin-concentrating hormone receptor 1". ...

"EST Profile - Hs.222236". (Genes on human chromosome 19, Human proteins). ... ZNF837 has numerous paralogs in humans, all of which are zinc finger proteins. In humans, there are no other aliases, and its ... The human ZNF837 has homologs present in many mammals and seen more distantly. All homologs are chordates. All contain both ... In humans, 5 Zf-H2C2 double domains and 2 COG5048 domains are present. The protein sequence is fast evolving among these ...

Articles with short description, Short description matches Wikidata, Genes on human chromosome 22). ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "Prediction of the coding sequences of unidentified human genes. XX ... Bischoff FR, Krebber H, Kempf T, Hermes I, Ponstingl H (Apr 1995). "Human RanGTPase-activating protein RanGAP1 is a homologue ...

The human CCND1 gene is located on the long arm of chromosome 11 (band 11q13). It is 13,388 base pairs long, and translates ... Fantl V, Smith R, Brookes S, Dickson C, Peters G (1993). "Chromosome 11q13 abnormalities in human breast cancer". Cancer ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 11). ... within the amplified chromosome 11q13 region in human carcinomas". Oncogene. 7 (2): 355-61. PMID 1532244. Seto M, Yamamoto K, ...