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Alessandro S Guimarães Filipe B Carmo Marcos B Heinemann Ricardo WD Portela Roberto Meyer Andrey P Lage Núbia Seyffert Anderson Miyoshi Vasco Azevedo Aurora MG Gouveia 《BMC veterinary research》2011,7(1):1-5
Background
Multiple congenital ocular anomalies (MCOA) syndrome is a hereditary congenital eye defect that was first described in Silver colored Rocky Mountain horses. The mutation causing this disease is located within a defined chromosomal interval, which also contains the gene and mutation that is associated with the Silver coat color (PMEL17, exon 11). Horses that are homozygous for the disease-causing allele have multiple defects (MCOA-phenotype), whilst the heterozygous horses predominantly have cysts of the iris, ciliary body or retina (Cyst-phenotype). It has been argued that these ocular defects are caused by a recent mutation that is restricted to horses that are related to the Rocky Mountain Horse breed. For that reason we have examined another horse breed, the Icelandic horse, which is historically quite divergent from Rocky Mountain horses.Results
We examined 24 Icelandic horses and established that the MCOA syndrome is present in this breed. Four of these horses were categorised as having the MCOA-phenotype and were genotyped as being homozygous for the PMEL17 mutation. The most common clinical signs included megaloglobus, iris stromal hypoplasia, abnormal pectinate ligaments, iridociliary cysts occasionally extending into the peripheral retina and cataracts. The cysts and pectinate ligament abnormalities were observed in the temporal quadrant of the eyes. Fourteen horses were heterozygous for the PMEL17 mutation and were characterized as having the Cyst-phenotype with cysts and occasionally curvilinear streaks in the peripheral retina. Three additional horses were genotyped as PMEL17 heterozygotes, but in these horses we were unable to detect cysts or other forms of anomalies. One eye of a severely vision-impaired 18 month-old stallion, homozygous for the PMEL17 mutation was examined by light microscopy. Redundant duplication of non-pigmented ciliary body epithelium, sometimes forming cysts bulging into the posterior chamber and localized areas of atrophy in the peripheral retina were seen.Conclusions
The MCOA syndrome is segregating with the PMEL17 mutation in the Icelandic Horse population. This needs to be taken into consideration in breeding decisions and highlights the fact that MCOA syndrome is present in a breed that are more ancient and not closely related to the Rocky Mountain Horse breed. 相似文献13.
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Janna Bednenko Rian Harriman Lore Mariën Hai M. Nguyen Alka Agrawal Ashot Papoyan 《MABS-AUSTIN》2018,10(4):636-650
Identifying monoclonal antibodies that block human voltage-gated ion channels (VGICs) is a challenging endeavor exacerbated by difficulties in producing recombinant ion channel proteins in amounts that support drug discovery programs. We have developed a general strategy to address this challenge by combining high-level expression of recombinant VGICs in Tetrahymena thermophila with immunization of phylogenetically diverse species and unique screening tools that allow deep-mining for antibodies that could potentially bind functionally important regions of the protein. Using this approach, we targeted human Kv1.3, a voltage-gated potassium channel widely recognized as a therapeutic target for the treatment of a variety of T-cell mediated autoimmune diseases. Recombinant Kv1.3 was used to generate and recover 69 full-length anti-Kv1.3 mAbs from immunized chickens and llamas, of which 10 were able to inhibit Kv1.3 current. Select antibodies were shown to be potent (IC50<10 nM) and specific for Kv1.3 over related Kv1 family members, hERG and hNav1.5. 相似文献
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Dorothea Bedigian Sebsebe Demissew Paul Gepts Daniel F. Austin Neil A. Harriman John Klock Sarah Walshaw John Richard Stepp Beverly J. Brown Julie Polley David Winston Barbara Pickersgill Patrick Van Damme Nina L. Etkin Beronda L. Montgomery Linda Perry Stephen E Siebert Robert J. Krueger Kathleen McConnell Wendy Applequist Mary Theresa Bonhage-Freund Karol Chandler-Ezell 《Economic botany》2005,59(4):395-412
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Daniel F. Austin Richard Felger Karol Chandler-Ezell Michael J. Balick Kurt Allerslev Reynertson Alfredo Gomez-Beloz My Lien T. Nguyen Rob Dean Neil A. Harriman Dorothea Bedigian Mary Theresa Bonhage-Freund Wendy Applequist Linda M. Lyon John Klock My Lien T. Nguyen 《Economic botany》2005,59(2):197-209
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