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There is a great deal of interest in one of the gene that is usually deleted in Phelan-McDermid Syndrome, SHANK3 (also known as PROSAP2).
Mutations in the SPG21 (ACP33/maspardin) gene are associated with the mast syndrome, a type of spastic paraplegia.
In 1996, a molecular phylogenetic study of the rbcL gene showed that Agapanthus was misplaced in Alliaceae, and the authors excluded it from the family.
Davis claimed that he wrote the song with Gene Vincent after listening to the song "Don't Bring Lulu", and Vincent himself sometimes claimed that he wrote the words inspired by a comic strip, "Little Lulu".
7. Characterization of the role of CRTAP, a gene responsible for bone collagen modification, and definition of its role in the osteogenesis imperfecta (Roy Morello and Brendan Lee)
In molecular biology, the Btz domain (CASC3/Barentsz eIF4AIII binding domain) is a protein domain found on CASC3 (cancer susceptibility candidate gene 3 protein) which is also known as Barentsz (Btz).
Onset is typically after the age of 7 years and it is seen most frequently in the German shepherd dog, Pembroke Welsh corgi, and boxer dog, though the disorder is strongly associated with a gene mutation in SOD1 that has been found in 43 breeds as of 2008, including the wire fox terrier, Chesapeake Bay retriever, Rhodesian ridgeback, and Cardigan Welsh corgi.
RARRES1, RARRES2 (this gene), and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene.
A specific variation at Sp1 binding site is shown to be associated with increased risk of low bone mass and vertebral fracture, because of the changes the COL1A1 protein produced from one copy of the gene.
Similarly, gene activity in the human brain is better understood through examination of the brains of mice by the Seattle-based Allen Institute for Brain Science (see link below), yielding the freely available Allen Brain Atlas.
Another common underlying mechanism of CMS is the mutation of the rapsyn protein, coded by the RAPSN gene.
On the other hand, analysis of FOXP2, using the chromatin immunoprecipitation technique, revealed that it binds onto and directly down-regulates expression of CNTNAP2, a gene found to be associated with nonsense-word repetition, a major marker of SLI.
Gené, Maine-et-Loire, a commune in the Maine-et-Loire department in France
Gene Calderazzo is an American jazz drummer, born in New York, but currently residing in the United Kingdom, where he is a visiting tutor at the Birmingham Conservatoire, the Royal Academy of Music, Trinity and the Guildhall.
Furthermore, a study looking at genetic variation of the FUT2 gene in the Sri Lankan Tamil and Sinhalese population, found similar genetic backgrounds for both ethnic groups, with little genetic flow from other neighbouring Asian population groups.
Goldberg–Shprintzen is a condition associated with mutations in KIAA1279 gene.
The hisB gene, found in the enterobacteria (such as E. coli), in Campylobacter jejuni and in Xylella/Xanthomonas encodes a protein involved in catalysis of two step in histidine biosynthesis (the sixth and eight step), namely the bifunctional Imidazoleglycerol-phosphate dehydratase/histidinol-phosphatase.
HLA-DR10 (DR10) is a HLA-DR serotype that recognizes the DRB1*1001 gene product.
Most vertebrates have six genes from the Dlx family of homeodomain transcription factors, arranged into three clusters: Dlx1/Dlx2, Dlx3/Dlx4 and Dlx5/Dlx6.
Homeotic mutants in angiosperms are thought to be rare in the wild: in the annual plant Clarkia, (Onagraceae), homeotic mutants are known where the petals are replaced by a second whorl of sepal like organs, originating via a mutation governed by a single recessive gene.
This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate (HGS).
IRX3 is a member of the Iroquois homeobox gene family and plays a role in an early step of neural development.
Using bacterial luciferase as a reporter for gene expression, studies have shown that, similar to Drosophila, mouse, and Neurospora clock models, the Synechococcus circadian clock is based on a negative feedback loop.
Homozygous mutations in the HAX1 gene are associated with Kostmann disease, i.e. the "classical," autosomal recessive form of severe congenital neutropenia (SCN3).
In 2005, scientists at the Queensland Institute of Medical Research and the University of Queensland found that modified Kunjin virus particles injected into mice were able to deliver a gene into the immune system targeting cancer cells.
In terms of genetics, the gene ROBO1 has been associated with phonological buffer integrity or length.
It is caused by mutations in TGFBI gene encoding keratoepithelin, which maps to chromosome 5q.
The cladogram was based on DNA sequences of both nuclear histone H3 and mitochondrial cytochrome-c oxidase I (COI) protein-coding gene regions.
The metaxin gene, which encodes a protein located on the outer membrane of mitochondria, is a component of the mitochondrial protein translocation apparatus.
His acting credits include roles in the Off-Broadway production of Tony n' Tina's Wedding, H.P. Lovecraft (LoveCracked! The Movie) and has appeared in Shakespeare's Much Ado About Nothing at the Gene Frankel Theatre in NYC.
It was found that the PTS1 receptor is encoded by the PEX5 gene.
In melanocytic cells PLP1 gene expression may be regulated by MITF.
The group of 12 included John Dante, Joe DeCarlo, Bernie Cornfeld, Shel Silverstein, Gene Schacove, Jim Brown, Lee Wolfberg, John Rockwell, Berry Gordy, Billy Eisenberg, Michael Trikilis, and James Caan.
His and Carolyn Napoli's observations of pigment gene 'cosuppression' in Petunia flowers are examples of post transcriptional gene silencing that predated the discovery of RNA interference (RNAi) and contributed to the current understanding of the commonality of RNA-mediated gene silencing in eukaryotes.
Alan Grafen – The Intellectual Contribution of The Selfish Gene to Evolutionary Theory
As opposed to many drummers, who cross over their sticks to play the hi-hat with their right hand and snare with their left hand, Shawn instead keeps time with his left hand, keeps a ride cymbal on the left side of his set, and relegates his right hand for snare drum hits (similar to Gene Hoglan and Steven Sweet).
However, PHA2 is not caused by mutations within the NCC gene, but by mutations in NCC regulators WNK1 and WNK4.
According to Sulu actor George Takei, "Gene Roddenberry's vision for Sulu was to represent all of Asia, being named for the Sulu Sea instead of using a specific country-specific name".
His most recent work, first published in the 2005 issue of Science, involves the ethnic group-specific role of CCR5 haplotype and CCL3L1 gene copy number on the progression of HIV to AIDS.
The film explores the tension between two Spokane men who grew up together on the Spokane Reservation in eastern Washington state: Seymour Polatkin (Evan Adams) and Aristotle (Gene Tagaban).
"The Unbearable Like-Likeness of Gene" was first broadcast on December 9, 2012, as part of Fox's Animation Domination programming block, and was preceded by the premiere of the The Simpsons episode "The Day the Earth Stood Cool" and was followed by the premiere of the Family Guy episode "Friends Without Benefits."
MYOC, a human gene (Trabecular meshwork Inducible Glucocorticoid Response)
Direct sequence analysis of genomic DNA from blood can be used to perform a mutation analysis for the TALDO1 gene responsible for the Transaldolase enzyme.
Thrombospondin 1, a protein that in humans in encoded by the THBS1 gene
In melanocytic cells VAT1 gene expression may be regulated by MITF.
One is an out-take from the recording sessions of "Just Like Gene Autry: A Foxtrot" where Arthur Godfrey records his spoken introduction to the song.
Williams Syndrome Transcription Factor is another name for the human gene Bromodomain adjacent to zinc finger domain, 1B, also known as BAZ1B
At this position, there is a deletion in the SH2D1A gene, which codes for an SH2 domain on a signal transducing protein called SLAM-associated protein (SAP).
One study showed weak linkage to the Xq28 region, whereas a second in 1999 studying Canadian material consisting of 52 pairs of gay brothers found no statistically significant linkage in alleles and haplotypes and concluded against an X-linked male homosexuality gene.