Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Rachel H Flomen"'
Autor:
Andrew Makoff, Rachel H Flomen
Publikováno v:
Neuroscience Letters. 497:139-143
The astroglial EAAT2 glutamate transporter is essential for clearing glutamate in the central nervous system and protecting against excitotoxicity. It is implicated in amyotrophic lateral sclerosis (ALS, the most common type of motor neurone disease)
Autor:
David A. Collier, Andrew Makoff, Rachel H Flomen, Gerome Breen, Janet Munro, S Osborne, David St. Clair
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :571-575
Schizophrenia and bipolar disorder are major psychiatric diseases that have a strong genetic element. Markers in the vicinity of the CHRNA7 gene at 15q13-q14 have been linked with an endophenotype of schizophrenia, P50 sensory gating disorder, with s
Publikováno v:
Nucleic Acids Research. 32:2113-2122
Adenosine to inosine editing of mRNA from the human 5-HT2C receptor gene (HTR2C) occurs at five exonic positions (A–E) in a stable stem–loop that includes the normal 5′ splice site of intron 5 and is flanked by two alternative splice sites. Usi
Autor:
Robin M. Murray, Marco Picchioni, Elvira Bramon, Katja Schulze, Eugenia Kravariti, Mei-Hua Hall, Andrew Makoff, Fruhling Rijsdijk, Philip Asherson, Muriel Walshe, Rachel H Flomen, Timothea Toulopoulou, Madiha Shaikh
There is considerable evidence implicating the 15q13.3 region in neuropsychiatric disorders, with the α7 nicotinic receptor gene CHRNA7 the most plausible candidate. This region has multiple duplications and many copy number variants (CNVs). A commo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ec447b424cef8ea1be8b994a8212139
http://hdl.handle.net/10722/161259
http://hdl.handle.net/10722/161259
Autor:
Andrew Makoff, Rachel H Flomen
Publikováno v:
Genome Biology
A detailed segmental map of the 15q11-q14 region of the human genome reveals two pairs of large direct repeats in regions associated with Prader-Willi and Angelman syndromes and other repeats that may increase susceptibility to other disorders.
Autor:
Rachel H Flomen, Andrew Makoff
Publikováno v:
European Journal of Human Genetics. 17:149-150
Sharp et al1 recently described microdeletions at 15q13.3 associated with mental retardation and seizures. These deletions are between Prader–Willi/Angelman break points BP4 and BP5 and include the nicotinic acetylcholine α7 receptor gene (CHRNA7)
Publikováno v:
Human molecular genetics. 2(1)
The structure of the gene coding for iduronate sulphate sulphatase (IDS) has been determined. We have used exon to exon and vectorette PCR to identify 9 exons within the IDS gene and to characterise the surrounding intron sequences. The results of th
Publikováno v:
Genomics. 13(3)
We have used screening with the polymerase chain reaction and chemical mismatch detection of amplified cDNA to detect and characterize deletions and point mutations in six Hunter Syndrome patients. A high degree of mutational heterogeneity was observ
Autor:
Rachel H Flomen, Anne Schmechtig, David A. Collier, Michael Wagner, Andrew Makoff, Nadine Petrovsky, Ulrich Ettinger, Veena Kumari
Publikováno v:
The International Journal of Neuropsychopharmacology. 12:267
Chromosome 15q13–q14 harbours the gene for the α7 nicotinic acetylcholine receptor subunit ( CHRNA7 ) and a related gene ( CHRFAM7A ) which arises from a partly duplicated portion of CHRNA7 . Recent evidence suggests that CHRFAM7A is a locus with
Autor:
Robin M. Murray, Katja Schulze, Rachel H Flomen, Marco Picchioni, Emma Dempster, Timothea Toulopoulou, Andrew Makoff, John Powell, Mei H Hall, Elvira Bramon, Fruhling Rijsdijk, David A. Collier, Miguel Constante, Muriel Walshe, Ian Williams, Madiha Shaikh
Publikováno v:
Schizophrenia Research. 102:113