Valina L. Dawson
"DJ-1 gene deletion reveals that DJ-1 is an atypical peroxiredoxin-like peroxidase". Proceedings of the National Academy of ... With the discovery of gene mutations that are the cause of rare familial cases of Parkinson's disease, their research team has ... 30 September 2016). "Pathological α-synuclein transmission initiated by binding lymphocyte-activation gene 3". Science. 353 ( ... polymerase gene disruption renders mice resistant to cerebral ischemia". Nature Medicine. 3 (10): 1089-95. doi:10.1038/nm1097- ...
Puromycin
Deletion of the gene encoding the multidrug efflux pump Pdr5 sensitizes cells to puromycin.[citation needed] Long-term synaptic ... Resistance to puromycin is conferred by the pac gene encoding a puromycin N-acetyl-transferase (PAC) that was found in a ... gene. Lethal concentrations of puromycin are much higher for strains of Saccharomyces cerevisiae than mammalian cell lines. ...
SroH RNA
An SroH gene deletion strain was shown to be sensitive to cell wall stress. SroE and SroD were identified in the same ...
GATC (gene)
This may imply that double deletion of the GATC gene is lethal to zygotes. The remaining tests were carried out on adult ... The gene is also known as 15E1.2 and encodes part of a Glu-tRNA(Gln) amidotransferase enzyme. Model organisms have been used in ... Glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) is a protein that in humans is encoded by the GATC gene. ... v t e (Articles with short description, Short description matches Wikidata, Human proteins, Genes mutated in mice, All stub ...
SHANK3
This gene is often missing in patients with 22q13.3 deletion syndrome (Phelan-McDermid syndrome), although not in all cases. ... This gene is a member of the Shank gene family. The gene encodes a protein that contains 5 interaction domains or motifs ... "Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome". American Journal ... "Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome". Journal of Medical Genetics ...
Neurexin
Deletion of the neurexin genes in the mice significantly impaired synaptic function, but did not alter synaptic structure. This ... Genes on human chromosome 2, Pages using infobox protein with unknown parameters, Genes on human chromosome 11, Genes on human ... Further research indicates that deletion of the NRXN1 gene increases the risk of schizophrenia. Genomic duplications and ... A recent study shows that NRXN genes 1-3 are essential for survival and play a pivotal and overlapping role with each other in ...
Complement component 1s
"Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene". Human Genetics. 103 (4): 415-8. ... "Entrez Gene: C1S Complement component 1, s subcomponent". Luo C, Thielens NM, Gagnon J, Gal P, Sarvari M, Tseng Y, Tosi M, ... In humans, it is encoded by the C1S gene. C1s cleaves C4 and C2, which eventually leads to the production of the classical ... Kusumoto H, Hirosawa S, Salier JP, Hagen FS, Kurachi K (October 1988). "Human genes for complement components C1r and C1s in a ...
DNA damage-inducible transcript 3
Chop gene deletion has been demonstrated protective against diet induced metabolic syndromes in mice. Mice with germline Chop ... As a transcription factor, CHOP can regulate the expression of many anti-apoptotic and pro-apoptotic genes, including genes ... November 1992). "Rearrangement of the transcription factor gene CHOP in myxoid liposarcomas with t(12;16)(q13;p11)". Genes, ... characterization and chromosomal localization of the human GADD153 gene". Gene. 116 (2): 259-67. doi:10.1016/0378-1119(92)90523 ...
C16orf78
... was found to be phosphorylated by SRPK1(NP_003128.3) and SPRK2 (AAH68547.1). Deletion of the C16orf78 gene has been ... Amplification of the C16orf78 gene has been linked to metabolically adaptive cancer cells. A duplication of the C16orf78 gene ... is a protein that in humans is encoded by the chromosome 16 open reading frame 78 gene. The C16orf78 gene(123970) is located at ... "Gene: C16orf78 (ENSG00000166152) - Summary - Homo sapiens - Ensembl genome browser 96". useast.ensembl.org. Retrieved 2019-05- ...
Glycogen storage disease
A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage. Muscle Nerve. 1993 Jan;16(1):57-62 ... See Glycogen phosphorylase§Regulation). Unknown glycogenosis related to dystrophy gene deletion: patient has a previously ... Also, Fanconi-Bickel syndrome (gene SLC2A2) and Danon disease (gene LAMP2) were declassed as GSDs due to being defects of ... Phosphoglucomutase deficiency (gene PGM1) was declassed as a GSD due to it also affecting the formation of N-glycans; however, ...
Penicillium paxilli
"Deletion and Gene Expression Analyses Define the Paxilline Biosynthetic Gene Cluster in Penicillium paxilli". Toxins. 5 (8): ...
Collagen, type III, alpha 1
Another study discovered mice with a naturally occurring large deletion of the COL3A1 gene. These mice died suddenly due to ... The gene has 51 exons and is approximately 40 kbp long. The COL3A1 gene is in tail-to-tail orientation with a gene for another ... Gene. 707: 151-171. doi:10.1016/j.gene.2019.05.003. PMC 6579750. PMID 31075413. Kühn K (1989). "Chapter 1: The classical ... The COL3A1 gene is located on the long (q) arm of chromosome 2 at 2q32.2, between positions 188974372 and 189012745. ...
Steroid sulfatase
"Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population". Molecular Medicine. 7 (12): 845-9. doi: ... DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene". Clinical Genetics. 34 (1 ... Knockdown of STS gene expression in human skin cell cultures affects pathways associated with skin function, brain and heart ... "Entrez Gene: STS steroid sulfatase (microsomal), arylsulfatase C, isozyme S". Mueller JW, Gilligan LC, Idkowiak J, Arlt W, ...
SEPP1
August 2021). "Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs". PLOS Genetics. 17 (8): ... "Entrez Gene: SEPP1 selenoprotein P, plasma, 1". Burk and Hill 2009 "Selenop selenoprotein P [Mus musculus (house mouse)] - Gene ... Selenoprotein P is a protein that in humans is encoded by the SEPP1 gene. This gene encodes a selenoprotein containing multiple ... The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for ...
Asd RNA motif
... the multiple virulence gene regulator gene) and was renamed MarS for mag-activating regulatory sRNA. In MarS deletion strains ... First, in some cases, the asd RNA is not in the 5' untranslated region of any annotated gene. Second, in Streptococcus mutans, ... Some asd RNA are associated with genes, such as asd, that are suggestive of a cis-regulatory function. However, several lines ... This arrangement suggests that asd RNA transcription is terminated, and the gene is transcribed from the downstream promoter. ...
Complement component 2
C2 type I deficiency is caused by a 28-base pair gene deletion, resulting in premature termination codon and lack of C2 protein ... A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing". The Journal of Biological Chemistry. 267 (13): ... Complement C2 is a protein that in humans is encoded by the C2 gene. The protein encoded by this gene is part of the classical ... "Entrez Gene: C2 complement component 2". Krishnan V, Xu Y, Macon K, Volanakis JE, Narayana SV (2009). "The structure of C2b, a ...
Plakophilin-2
"Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy". European Journal of ... Two splice variants of the PKP2 gene have been identified. The first has a molecular weight of 97.4 kDa (881 amino acids) and ... Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. Plakophilin 2 is expressed in skin and cardiac muscle, ... "Entrez Gene: PKP2 plakophilin 2". "Protein sequence of human PKP2 (Uniprot ID: Q99959)". Cardiac Organellar Protein Atlas ...
Bottromycin
Gene deletion studies failed to elucidate the function of other proteins within the cluster. Bioinformatic analysis identified ... However, bottromycin was found to be a highly modified ribosomal peptide by a combination of genome mining and gene deletion ... Another gene, btmA, is proposed to export bottromycin. The remaining ten genes are expected to modify the precursor peptide ... The complete biosynthetic gene cluster for bottromycin has been identified. It is predicted to contain 13 genes, including the ...
METAP2
The knockout of this gene in E. coli leads to cell inviability. In humans, there are two genes encoding MetAP, MetAP1 and ... Chang YH, Teichert U, Smith JA (April 1992). "Molecular cloning, sequencing, deletion, and overexpression of a methionine ... The number of genes encoding for a methionine aminopeptidase varies between organisms. In E. coli, there is only one known ... Methionine aminopeptidase 2 is an enzyme that in humans is encoded by the METAP2 gene. Methionine aminopeptidase 2, a member of ...
Dystrophin
The deletions of one or several exons of the dystrophin DMD gene cause Duchenne and Becker muscular dystrophies. The large ... The HFMD cat has a deletion in the promoter region of the DMD gene. Muscle histology shows necrosis but no fibrosis. Extensive ... It has a molecular weight of 427 kDa Dystrophin is coded for by the DMD gene - the largest known human gene, covering 2.4 ... A variant of the DMD gene, which is on the X chromosome, named B006, appears to be an introgression from a Neanderthal-modern ...
NKX3-1
Furthermore, targeted deletion of PTEN gene in CARNs resulted in rapid carcinoma formation after androgen-mediated regeneration ... The gene which they symbolized NKX3-1 encoded a 234-amino acid polypeptide with greatest homology to the Drosophila NK3 gene. ... Filmore RA, Dean DA, Zimmer WE (2003). "The smooth muscle gamma-actin gene is androgen responsive in prostate epithelia". Gene ... NKX3-1 is a prostatic tumor suppressor gene. NKX3-1 is an androgen-regulated, prostate-specific homeobox gene whose expression ...
Myostatin
September 1997). "A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle". Nature Genetics. 17 ( ... about twice those of wild type due to genetic engineering for targeted deletion of the myostatin gene - under microgravity. ... "MSTN gene". Genetics Home Reference. 28 March 2016. Gonzalez-Cadavid NF, Taylor WE, Yarasheski K, Sinha-Hikim I, Ma K, Ezzat S ... The gene encoding myostatin was discovered in 1997 by geneticists Se-Jin Lee and Alexandra McPherron who produced a knockout ...
SORBS1
"Bone marrow-specific Cap gene deletion protects against high-fat diet-induced insulin resistance". Nature Medicine. 13 (4): 455 ... "Entrez Gene: SORBS1 sorbin and SH3 domain containing 1". Lin WH, Huang CJ, Liu MW, Chang HM, Chen YJ, Tai TY, Chuang LM (May ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 10). ... also known as Sorbin and SH3 domain-containing protein 1 is a protein that in humans is encoded by the SORBS1 gene. It is part ...
PURB
Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. GRCh38: Ensembl release ... Transcriptional activator protein Pur-beta is a protein that in humans is encoded by the PURB gene. This gene product is a ... "Entrez Gene: PURB purine-rich element binding protein B". Sanger Centre, The; Washington University Genome Sequencing Cente, ... Lezon-Geyda K, Najfeld V, Johnson EM (2001). "Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and ...
DAAM1
The deletion of a single copy of this gene has been associated with congenital heart defects. GRCh38: Ensembl release 89: ... "Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report". BMC Med. Genet. 13 (1): 63. doi:10.1186/1471- ... "Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1". Bao B, Zhang L, Hu H, Yin S, Liang Z (August 2012). " ... Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been ...
Caveolin 3
... in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p ... "Entrez Gene: CAV3 caveolin 3". Hedley PL, Kanters JK, Dembic M, Jespersen T, Skibsbye L, Aidt FH, Eschen O, Graff C, Behr ER, ... This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell ... de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M (2001). "Mutations in the caveolin-3 gene: When are they ...
Vicriviroc
... a mutational variant of the CCR5 coding gene. The deletion of 32 base pairs in this gene results in nonfunctional CCR5 ... Individuals who inherit one copy of Δ32 variant and one copy of the normal CCR5 gene are CCR5 heterozygotes. Δ32 heterozygotes ... and possesses a lower affinity for the human ether-a-go-go-related gene transcript ion channel, which may suggest a lower risk ... but the progression of the disease is significantly delayed compared to those with two normal copies of the CCR5 gene. CCR5 ...
NAD(P)H dehydrogenase, quinone 2
Harada S, Tachikawa H, Kawanishi Y (2005). "A possible association between an insertion/deletion polymorphism of the NQO2 gene ... quinone oxidoreductase gene family. Extensive polymorphism at the NQO2 gene locus on chromosome 6". Biochemistry. 29 (7): 1899- ... NAD(P)H dehydrogenase, quinone 2, also known as QR2, is a protein that in humans is encoded by the NQO2 gene. It is a phase II ... "Entrez Gene: NQO2 NAD(P)H dehydrogenase, quinone 2". Cardinali DP, Delagrange P, Dubocovich ML, Jockers R, Krause DN, Markus RP ...
Chromosome 2q deletion
The severity of the condition and the signs and symptoms depend on the size and location of the deletion, and which genes are ... 2q37 deletion syndrome "Chromosome 2q deletion - Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on ... Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavior ...
Strictosidine
This was accomplished by adding 21 genes and 3 gene deletions. The involvement of the glucoalkaloid strictosidine in the ...
Tetralogy of Fallot
Gene deletions associated with TOF include chromosome 22 deletion as well as DiGeorge syndrome. Specific genes associations ... Chromosome 22q11 deletions also deleting TBX1 gene have been seen in 17% TOF cases. FLT4 gene expression leads to Vascular ... Mutations of this gene have been associated with TOF, accounting for 2.4% of all cases. FOXC2 is another gene involved in ... Chung IM, Rajakumar G (January 2016). "Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player". Genes. 7 (2): 6. ...
Waardenburg syndrome
A deletion of the paired domain region of the gene has been documented to have this effect. However, no major correlation has ... The gene has been provisionally termed WS2C. Type 2D is caused by an autosomal recessive mutation in both copies of the gene ... Type 1 is caused by a mutation in the PAX3 gene, while the gene that most often causes type 2 when mutated is MITF. Type 3 is a ... The gene has been provisionally termed WS2B. Type 2C is caused by an autosomal dominant mutation in an unknown gene on ...
Chromosomal deletion syndrome
... it is suggested to be one of the most common contiguous gene deletion disorders. 5p deletions are most common de novo ... Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), ... is due to haploinsufficiency of several closely linked genes as opposed to a single gene. Related genes that impact variation ... Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the ...