Neurospora msh4 ortholog confirmed by split-marker deletion
نویسندگان
چکیده
منابع مشابه
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformation...
متن کاملBiotransformation of Hydrocortisone by Neurospora crassa
The ability of Neurospora crassa FGSC 4335 in the biotransformation of hydrocortisone was investigated. The microorganism produced two major metabolites after incubation with the substrate for seven days. Each microbial product was purified chromatographically and identified on the basis of spectral data. The products were identified as 11?,17?,20?,21-tetrahydroxypregn-4-en-3-one (II) and 11?-h...
متن کاملCharacterization of deletion derivatives of an autonomously replicating Neurospora plasmid.
We previously described two plasmids that replicate autonomously in both Neurospora and E. coli (Stohl and Lambowitz, Proc. Natl. Acad. Sci., U.S.A. 80, 1058-1062, 1983). One plasmid, pALS1, consists of the Neurospora ga-2+ gene (3 kb Hind III-fragment), the mitochondrial plasmid from N. intermedia strain P405-Labelle, and E. coli plasmid pBR325. The other, pALS2, is a putative deletion derivat...
متن کامل1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded...
متن کاملGiant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization.
Here we report the association of giant platelets and an increase in platelet volume in a 19-month-old black female with de novo del 11q24-qter. The deletion, which was visible on karyotype, was further confirmed and more precisely localized by fluorescence in situ hybridization studies (FISH) that showed the deletion to lie distal to the MLL gene region (11q23). Clinically, the case presented ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Fungal Genetics Reports
سال: 2006
ISSN: 1941-4765
DOI: 10.4148/1941-4765.1105