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Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.
- S. Ashraf, B. Hoskins, F. Hildebrandt
- MedicineNephrology, dialysis, transplantation : official…
- 1 May 2010
A genome-wide search for linkage in a large pedigree of Somalian descent containing eight affected individuals with a non-syndromic form of CAKUT identified a new non- Symondsian recessive gene locus on chromosome 8q24, which will provide further insights into the pathogenesis of urinary tract malformations and mechanisms of renal development.
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy
- N. Rahner, G. Nuernberg, D. Finis, P. Nuernberg, B. Royer-Pokora
- Biology, MedicineOphthalmic genetics
- 11 February 2016
The genotypic spectrum of C8orf37-associated retinal dystrophies is extended and a genotype-phenotype correlation between an arCRD-polydactyly-association and truncating germline mutations affecting the N-terminal region of the protein is demonstrated for the first time.
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.
Evidence to suggest that at least two further loci exist for MH susceptibility is added, adding to the evidence for considerable genetic heterogeneity in MH and providing a route to further the understanding of the molecular pathology of the condition.
Hereditary isolated renal magnesium loss maps to chromosome 11q23.
Detailed haplotype analyses identified a common haplotype segregating in both families, suggesting both their relationship through a common ancestor and the existence of a single, hypomagnesemia-causing mutation within them.
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
YP26C1 is described as the first genetic modifier for SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia and zebrafish embryos.
A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation
Detailed clinical data of this family suggest a favourable outcome of cochlear implantation in hearing-impaired individuals with a MYO6 mutation, which is predicted to severely interfere with protein function.
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations
- T. Seeman, E. Seemanová, G. Nuernberg, P. Nuernberg, Sabine Janssen, E. Otto
- Medicine, BiologyPediatric Nephrology
- 6 July 2010
Interestingly, all patients with NPHP11 carry exclusively missense mutations leading to a milder phenotype compared with more severe phenotypes seen in JBTS or MKS patients, which is in agreement with autosomal recessive inheritance.
Performance evaluation of a particle-enhanced turbidimetric cystatin C assay using the Abbott Aeroset analyser and assessment of cystatin C-based equations for estimating glomerular filtration rate…
Although the cystatin C assay is acceptable for routine clinical laboratory monitoring, none of the existing cystarin C-based equations were ideal for estimating GFR in Chinese CKD patients.