Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:Q9UIJ5 (Rec)
58,342 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two Friesian cows, half-sibs by a common dam, produced four bull calves with severe congenital hypotrichosis and incisor anodontia and three normal heifers by six unrelated Holstein, Friesian, Devon and Hereford bulls. The two dams, and their dam, had coats of a short, stubbly nature and the pigmented areas appeared rusty grey rather than black. Pathological examination of skin samples taken from multiple standardised sites from two of the affected calves showed a reduction in the number of large first-formed hair follicles. Smaller calibre hair follicles were present but, unlike those of normal neonatal calves, all were in the telogen (inactive) phase. Although the herd was infected with bovine virus diarrhoea virus there was no convincing evidence that the virus was implicated in the pathogenesis of these cases of congenital hypotrichosis with incisor anodontia. The family breeding information on the few severely affected and normal progeny and mildly affected and normal parents may be explained by the genetic hypothesis of an X-linked incompletely dominant gene.
Vet Rec 1988 Feb 13
PMID:A genetic, pathological and virological study of congenital hypotrichosis and incisor anodontia in cattle. 283 85

Twenty-five of 72 calves sired by a Simmental bull were affected with a congenital skin disease which appeared to be inherited as an autosomal dominant trait. The affected calves showed hypotrichosis, erythema and breaks in the integrity of the skin. The distribution of the lesions and the ease with which excoriations occurred suggested an abnormal vulnerability to trauma. Mortality was high but in affected survivors the clinical signs moderated with age. Histopathologically, dermoepidermal separation and cytolysis of the germinal cell layer of the epidermis were seen. The name bovine epidermolysis is proposed and a relationship with epidermolysis bullosa simplex of man is suggested.
Vet Rec 1987 Jul 04
PMID:A congenital bovine epidermolysis resembling epidermolysis bullosa simplex of man. 260 42