Collie eye anomaly: a review

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F15%3A00452135" target="_blank" >RIV/67985904:_____/15:00452135 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Collie eye anomaly: a review

Popis výsledku v původním jazyce

Collie eye anomaly (CEA) is an inherited congenital visual impairment with heterogeneous signs. The first symptoms are already visible in the early embryo. Among the most affected breeds are Collies and Shetland Sheepdogs but the disease has spread to different breeds depending on the country of origin. Dogs affected with this disease share a 7.8 kb deletion in intron 4 of the NHEJ1 gene. Inheritance of this disease is autosomal recessive with incomplete penetrance. Thanks to a commercially available genetic test breeders can identify genetically affected recessive homozygotes and clinically healthy but genetic carriers of the mutation and thus select healthy parents for the next generation of dogs. However, the exact cause of the disease is not knownand it is not known whether the causative mutation influences the occurrence of some other diseases (e.g. immunodeficiencies).

Název v anglickém jazyce

Collie eye anomaly: a review

Popis výsledku anglicky

Collie eye anomaly (CEA) is an inherited congenital visual impairment with heterogeneous signs. The first symptoms are already visible in the early embryo. Among the most affected breeds are Collies and Shetland Sheepdogs but the disease has spread to different breeds depending on the country of origin. Dogs affected with this disease share a 7.8 kb deletion in intron 4 of the NHEJ1 gene. Inheritance of this disease is autosomal recessive with incomplete penetrance. Thanks to a commercially available genetic test breeders can identify genetically affected recessive homozygotes and clinically healthy but genetic carriers of the mutation and thus select healthy parents for the next generation of dogs. However, the exact cause of the disease is not knownand it is not known whether the causative mutation influences the occurrence of some other diseases (e.g. immunodeficiencies).

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

GJ - Choroby a škůdci zvířat, veterinární medicina

OECD FORD obor

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Projekt

<a href="/cs/project/ED2.1.00%2F03.0124" target="_blank" >ED2.1.00/03.0124: ExAM Experimental Animal Models</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Veterinární medicína

ISSN

0375-8427

e-ISSN

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Svazek periodika

60

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

6

Strana od-do

345-350

Kód UT WoS článku

000360366900001

EID výsledku v databázi Scopus

2-s2.0-84940874628