NAGly receptor
"An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 13, G protein-coupled ... receptors, Biology of bipolar disorder, All stub articles, Transmembrane receptor stubs). ...
Chromosome
The Rare Chromosome Disorder Support Group Support for people with rare chromosome disorders (Articles with short description, ... Abnormal numbers of chromosomes or chromosome sets, called aneuploidy, may be lethal or may give rise to genetic disorders. ... Chromosomes can also be fused artificially. For example, the 16 chromosomes of yeast have been fused into one giant chromosome ... Chromosomes in humans can be divided into two types: autosomes (body chromosome(s)) and allosome (sex chromosome(s)). Certain ...
Bloom syndrome protein
Deans AJ, West SC (24 December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 15, DNA replication ... the DNA of an homologous chromosome that is not broken. After strand invasion, the further sequence of events may follow either ... an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1". Proc. Natl. Acad. Sci. U.S.A. 91 ...
Chromosome engineering
... chromosome engineering will experiment in removing more common disorders such as asthma, diabetes, and cancer. If it can be ... In an experiment pertaining to chromosome engineering that was conducted in 2006, it was found that chromosome engineering can ... After much experimenting, it was found that manipulating chromosomes, or chromosome engineering, is an excellent and efficient ... Genetics Chromosome Chromosomal deletion Chromosomal inversion Chromosomal translocation DNA Disease "Chromosome engineering". ...
Isodicentric 15
"The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.1". Neurobiology of Disease. 38 (2): 181-191. ... The extra chromosome, which is classified as a small supernumerary marker chromosome, is made up of a piece of chromosome 15 ... The extra chromosome is occasionally found in the mosaic state, i.e. some of the cells carry the marker chromosome. However, ... Interstitial duplications of chromosome 15 can be more difficult to detect on a routine chromosome analysis but are clearly ...
DZIP1
2002). "An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder ... Biology of bipolar disorder, All stub articles, Human chromosome 13 gene stubs). ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 13, ...
CLDN10
2002). "An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder ... Biology of bipolar disorder, All stub articles, Human chromosome 13 gene stubs). ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 13, ...
MBNL2
2002). "An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder ... Biology of bipolar disorder, All stub articles, Human chromosome 13 gene stubs). ... 2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522-8. Bibcode:2004Natur.428..522D. doi: ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 13, ...
9q34.3 deletion syndrome
Rare Chromosome Disorder Support Group, "Kleefstra Syndrome" Archived 2013-07-04 at the Wayback Machine, Kleefstra Syndrome, ... 9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood ... FISH is a screening test that uses multicolour probes or comparative genomic hybridization to find any chromosome ... Array-based comparative genomic hybridization (aCGH) tracks chromosome deletions and or amplifications using fluorescent dyes ...
Essential tremor
Higgins JJ, Pho LT, Nee LE (November 1997). "A gene (ETM) for essential tremor maps to chromosome 2p22-p25". Movement Disorders ... Essential tremor is a progressive neurological disorder, and the most common movement disorder. Its onset is usually after age ... Mostile G, Jankovic J (October 2010). "Alcohol in essential tremor and other movement disorders". Movement Disorders. 25 (14): ... ET occurs within multiple neurological disorders besides Parkinson's disease. This includes migraine disorders, where co- ...
Episodic ataxia
The locus for this disorder has been mapped to the long arm of chromosome 1 (1q42). Also known as periodic vestibulocerebellar ... This disorder is also known as episodic ataxia with myokymia (EAM), hereditary paroxysmal ataxia with neuromyotonia and Isaacs- ... Steckley J, Ebers G, Cader M, McLachlan R (2001). "An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus ... Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with ...
CRISPR gene editing
This method might be useful for treating genetic disorders caused by abnormal numbers of chromosomes, such as Down syndrome and ... Chromosomes that have been successfully deleted in vivo using CRISPR techniques include the Y chromosome and X chromosome of ... CRISPR-Cas9 can be used to edit the DNA of organisms in vivo and to eliminate individual genes or even entire chromosomes from ... "CRISPR Used to Eliminate Targeted Chromosomes in New Study". Genome Web. Nov 27, 2017. Javed MR, Sadaf M, Ahmed T, Jamil A, ...
Aniridia
... is a heterozygous disorder, meaning that only one of the two chromosome 11 copies is affected. When both copies are ... Isolated aniridia is a congenital disorder that is not limited to a defect in iris development, but is a panocular condition ... Vision may be severely compromised and the disorder is frequently associated with some ocular complications: nystagmus, ... The AN2 region of the short arm of chromosome 11 (11p13) includes the PAX6 gene (named for its PAired boX status), whose gene ...
Exon shuffling
The human ATM gene is responsible for the human autosomal-recessive disorder ataxia-telangiectasia and is located on chromosome ... However, a partial ATM sequence is found in chromosome 7. Molecular features suggest that this duplication was mediated by L1 ...
Human genetics
Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y chromosome. Since Y chromosomes can ... For people with disorders like trisomy X, where the genotype has three X chromosomes, X-inactivation will inactivate all X ... Examples of autosomal recessive disorders are albinism, cystic fibrosis. X-linked genes are found on the sex X chromosome. X- ... X chromosomes in females undergo a process known as X inactivation. X inactivation is when one of the two X chromosomes in ...
Rs6265
SNPs on chromosome 11, Biology of bipolar disorder). ... eating and psychotic disorders, Notaras et al. argue that " ... meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia ... A number of studies have examined the role of this polymorphism in risk of neuropsychiatric disorders , including schizophrenia ... Another 2007 meta-analysis could, however, find no association between the SNP and schizophrenia or bipolar disorder. Meta- ...
ABCD1
... an X-chromosome recessively inherited demyelinating disorder of the nervous system. Model organisms have been used in the study ... Genes on human chromosome X, Wikipedia articles incorporating text from the United States National Library of Medicine, ATP- ...
DISC2
"Schizophrenia and affective disorders-cosegregation with a translocation at chromosome 1q42 that directly disrupts brain- ... schizoaffective disorder, and bipolar disorder". American Journal of Human Genetics. 75 (5): 862-872. doi:10.1086/425586. PMC ... In humans, the DISC2 gene that produces the DISC2 RNA molecule is located on chromosome 1, at the breakpoint associated with ... Farmer A, Elkin A, McGuffin P (Jan 2007). "The genetics of bipolar affective disorder". Current Opinion in Psychiatry. 20 (1): ...
Shaker (gene)
Protein pages needing a picture, Genes on human chromosome 1, Drosophila melanogaster genes, Genetic diseases and disorders, ... In Drosophila, the shaker gene is located on the X chromosome. The closest human homolog is KCNA3. The Sh gene plays a part in ...
Corneal opacity
Trisomy 8 mosaicism (T8M): It is a rare chromosome disorder caused by the presence of an extra chromosome 8 in some cells of ... Sclerocornea: Sclerocornea is a congenital disorder in which the cornea is opaque and resembles the sclera, making the limbus ... It is an autosomal recessive disorder. Sometimes, Corneal haze may be present in early life. Treatment options for significant ... Ichthyosis: X-linked ichthyosis is a genetic skin disorder caused by the hereditary deficiency of the steroid sulfatase enzyme ...
Disorders of sex development
Sex chromosome DSD: patients with sex chromosome aneuploidy or mosaic sex karyotypes. This includes patients with Turner ... "46,XX testicular disorder of sex development". Rare Disease Database. National Organization for Rare Disorders (NORD). ... in a 2006 Consensus statement on management of intersex disorders proposed a system of nomenclature based on "disorders of sex ... "Clinical Guidelines for the Management of Disorders of Sex Development in Childhood". Consortium on the Management of Disorders ...
Sex chromosome
The SRY gene (normally on the Y chromosome) is misplaced in this disorder, onto an X chromosome. Any person with an X ... An X chromosome is always present as the 23rd chromosome in the ovum, while either an X or Y chromosome may be present in an ... The 23rd pair of chromosomes are called allosomes. These consist of two X chromosomes in most females, and an X chromosome and ... a total of 46 chromosomes. The first 22 pairs are called autosomes. Autosomes are homologous chromosomes i.e. chromosomes which ...
Chromosome 22
Cat-eye syndrome is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22. A small extra ... Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each ... Chromosome 22 was the first human chromosome to be fully sequenced. Human chromosomes are numbered by their apparent size in ... "Chromosome 22: Chromosome summary - Homo sapiens". Ensembl Release 88. 29 March 2017. Retrieved 19 May 2017. "Human chromosome ...
Pentasomy X
A number of disorders have been reported as comorbid with sex chromosome aneuploidies, including pentasomy X. In one case ... One is tetrasomy X, a related disorder in which a girl or woman has four copies of the X chromosome. The general profiles of ... For sex chromosome tetrasomy and pentasomy disorders as a whole, good prognosis is linked to strong parental and personal ... In sex chromosome tetrasomy and pentasomy, the extra chromosomes are consistently inherited from one parent. In the specific ...
Neuronal calcium sensor-1
Genes on human chromosome 9, Proteins, Biology of bipolar disorder). ... The expression of NCS-1 increases in bipolar disorder and some forms of schizophrenia and decreases in inflammatory bowel ... "Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder". ... a drug used for the treatment of bipolar disorder) 3',5'-cyclic nucleotide phosphodiesterases ARF1 (ADP Ribosylation factor 1) ...
Ring chromosome 15
... is an uncommon genetic disorder first noted by Dr. Petrea Jacobsen in 1966. As of 2005, less than 50 cases ... 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. ... Ring chromosome syndromes are rare congenital disorders that are likely to occur in both males and females, and the symptoms ...
X-linked spinal muscular atrophy type 2
In females, a mutation of the gene on both X chromosomes would have to occur in order for the female to have the disorder. ... In males, if the X chromosome contains an altered copy of the gene then the male will have the disorder. ... The gene associated with this disorder, UBA1, is located on the X chromosome at Xp11.3 and contains 27 exons; moreover, ... X-linked recessive disorders, Motor neuron diseases, Neuromuscular disorders). ...
Non-coding RNA
"Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders". Psychiatric ... is a long ncRNA gene on the X chromosome of the placental mammals that acts as major effector of the X chromosome inactivation ... X chromosomes lacking Tsix expression (and thus having high levels of Xist transcription) are inactivated more frequently than ... The telomeres contain condensed DNA material, giving stability to the chromosomes. The enzyme is a reverse transcriptase that ...
Small nucleolar RNA
"Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders". Psychiatric ... These two loci (14q32 on chromosome 14 and 15q11q13 on chromosome 15) have been extensively characterised, and in both regions ... "Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism". Cell. 137 (7): 1235- ...
Small nucleolar RNA SNORD115
September 2004). "Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders ... HBII-52 is found in 47 tandem near identical copies on human chromosome 15q11-13. This locus is maternally imprinted, meaning ... June 2009). "Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism". Cell. 137 ... region of chromosome 15. However, a microdeletion in one family of the snoRNA HBII-52 cluster has excluded it from playing a ...
Jacobsen syndrome
It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal ... Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1 ... Ring chromosome 11- in this case genetic material from both long and short arm of the chromosome get deleted, and the remaining ... 88.5% of people with the disorder have Paris-Trousseau syndrome, which is a bleeding disorder and causes a lifelong risk of ...
Melvin M. Grumbach
... the function of the human sex chromosomes; and disorders of sexual development. After graduating from New Utrecht High School ... and their disorders) and disease-causing pathology. He was a past president of the Endocrine Society, the American Pediatric ... for his research and writing on the effect of hormones and the central nervous system on growth and puberty and their disorders ...
Tachykinin receptor 1
Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Obsessive-compulsive disorder ... The NK-1 receptor is found on human chromosome 2 and is located on the cell's surface as a cytoplasmic receptor. The NK1 ... In addition, it has been identified as a candidate in the etiology of bipolar disorder. Finally NK1R antagonists may also have ... NK1 receptor antagonists have also been studied in migraine, emesis and psychiatric disorders. In fact, aprepitant has been ...
Geniospasm
... is movement disorder of the mentalis muscle. It is a benign genetic disorder linked to chromosome 9q13-q21 where ... 1997). "Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity". Am. J. Hum. Genet. 61 (4 ...
Benign hereditary chorea
By studying a Dutch family, the disorder was discovered to be linked to chromosome 14. In 2002, an Italian family was studied, ... Genetic diseases and disorders, Autosomal dominant disorders, Neurological disorders, Rare diseases, All stub articles, Genetic ... Looking closer at the region of the chromosome suspected of causing the disorder, researchers discovered that there was a 1.2 ... This is a disorder that is correlated with mutations in the thyroid transcription factor gene (TITF-1). The disorder was ...
XYYY syndrome
XYYY and other high-level sex chromosome aneuploidies such as XXXY syndrome and tetrasomy X-or indeed 49-chromosome disorders ... XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra copies of the Y chromosome. The ... Sex chromosome aneuploidies occur via a process known as non-disjunction, where chromosomes fail to divide properly during cell ... Sex chromosome aneuploidies are the most frequent form of aneuploidy in humans. Though a 48-chromosome complement involving the ...