Browsing by Subject "Chromosome Mapping"
Now showing items 1-7 of 7
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Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity
(1998)Autosomal dominant medullary cystic kidney disease (ADMCKD
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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD)
(1998)There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, ...
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Article
Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene
(1996)Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...
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Cystic diseases of the kidney molecular biology and genetics
(2010)Context.-Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing Xlinked, autosomal dominant, and autosomal recessive inheritance. ...
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Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing
(2006)Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...
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Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12
(2000)Genetic analysis has shown that the distal portion of mouse chromosome 12 is imprinted
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Article
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
(1996)A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid ...