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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
A previously unknown MeCP2 isoform is described and mutations unique to this isoform and the absence of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
- E. Siintola, M. Topcu, +8 authors A. Lehesjoki
- Biology, MedicineAmerican journal of human genetics
- 1 July 2007
Six different mutations are identified in the MFSD8 gene (previously denoted "MGC33302"), which encodes a novel polytopic 518-amino acid membrane protein that belongs to the major facilitator superfamily of transporter proteins that is expressed ubiquitously, with several alternatively spliced variants.
Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping
This study provides a catalogue of genomic regions showing extreme reduction in genetic variation or population differentiation in dogs, including many linked to phenotypic variation.
Functional Characterization of Three Novel Tissue-specific Anion Exchangers SLC26A7, -A8, and -A9*
- H. Lohi, M. Kujala, +5 authors J. Kere
- Biology, MedicineThe Journal of Biological Chemistry
- 19 April 2002
The SLC26A7–A9 proteins are structurally very similar at the amino acid level to the previous family members and show tissue-specific expression in kidney, testis, and lung, respectively, suggesting that they encode functional anion exchangers.
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Pathogenic nontruncating alterations in MLH1 may interfere with different biochemical mechanisms but generally more than one, whereas variants with no or mild defects in functionality are associated with variable clinical phenotypes.
Genetic Diversity in the Modern Horse Illustrated from Genome-Wide SNP Data
The use of a genome-wide set of autosomal SNPs and 814 horses from 36 breeds to provide the first detailed description of equine breed diversity is described, providing new insights into the relationships among and the diversity within breeds of horses.
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Findings suggest that Kufor-Rakeb syndrome is also an NCL, although analysis of KRS brain tissue will be needed to confirm this prediction, and mutations in this gene are not common causes of Kufs disease.
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.
- E. Chan, C. Ackerley, +5 authors B. Minassian
- Chemistry, MedicineHuman molecular genetics
- 1 June 2004
Using immunogold electron microscopy, it is shown that laforin is found in close proximity to the ER surrounding the polyglucosan accumulations, and establishes for the first time a direct association between the disease-defining storage product and disease protein.
FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome
FEELnc is presented, an alignment-free program that accurately annotates lncRNAs based on a Random Forest model trained with general features such as multi k-mer frequencies and relaxed open reading frames and achieves similar or better classification performance on GENCODE and NONCODE data sets.
Functional Comparison of Mouse slc26a6 Anion Exchanger with Human SLC26A6 Polypeptide Variants
- M. Chernova, Lianwei Jiang, +5 authors S. Alper
- Medicine, BiologyJournal of Biological Chemistry
- 4 March 2005
The increased currents observed in oocytes expressing either mouse or human ortholog were pharmacologically distinct from the accompanying monovalent anion exchange activities, and human and mouse orthologs also differed in patterns of acute regulation.