Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations
نویسندگان
چکیده
منابع مشابه
Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene
Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed. We performed a genome-wide association study with 5 cases and 12 controls and detected an association on chromosome 20. Subsequent homozygosity mapping defined a critical interval of 952 kb harboring 10 annotated genes and loci including ...
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The novel aim of this study was to describe the reference values of different haematological and biochemical parameters in the Spanish purebred horse (Andalusian, SPB) in each of the stages of a programmed exercise on a treadmill system, and to establish heritability and genetic correlations for these haematological and biochemical parameters. For this, 94 young SPB male horses (4.22 ± 2.27 yea...
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Background: Congenital hepatic fibrosis (CHF) is an autosomal hereditary disorder affecting the porto-biliary system. It is a rare hereditary disorder often presenting in childhood or adolescence with hepatomegaly, splenomegaly, and gastrointestinal bleeding. A timely diagnosis of organomegalies by sonography can prevent esophageal varices. Liver transplantation is now the only...
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Congenital Hepatic Fibrosis (CHF) is a rare disease that affects both the liver and kidneys. Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...
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ژورنال
عنوان ژورنال: Veterinary Pathology
سال: 2018
ISSN: 0300-9858,1544-2217
DOI: 10.1177/0300985817754122