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DNA microsatellites co-segregation of polycystic kidney disease genes (PKD1 & PKD2) in autosomal dominant polycystic kidney disease (ADPKD) families & cell culture models for ADPKD /Yau, Chung-fai, Forrest. January 1999 (has links)
Thesis (M. Phil.)--University of Hong Kong, 2000. / Includes bibliographical references (leaves 127-144).
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Investigation of the structure and function of the PKD domain of polycystin-1, the protein product of the PKD1 geneCase, Ruth January 2002 (has links)
No description available.
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DNA microsatellites co-segregation of polycystic kidney diseasegenes (PKD1 & PKD2) in autosomal dominant polycystic kidney disease(ADPKD) families & cell culture models for ADPKD游頌輝, Yau, Chung-fai, Forrest. January 1999 (has links)
published_or_final_version / Pathology / Master / Master of Philosophy
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Comparative analysis of the PKD1 gene and protein, polycystin-1Hughes, Jim January 1999 (has links)
No description available.
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Clinical and molecular characterisation of autosomal recessive polycystic kidney disease (ARPKD) in Afrikaans familiesLambie, Lindsay Ann 24 August 2010 (has links)
MSc (Med)(Genetic Counselling), Faculty of Health Sciences, University of the Witwatersrand / Autosomal recessive polycystic kidney disease (ARPKD; MIM263200) is a severe recessively
inherited disease of the kidneys and biliary tract, with an incidence of approximately 1 in
20000 in non-isolated populations. It has a variable clinical spectrum from neonatal demise (in
30-50%) to survival into adulthood. ARPKD is caused by mutations at a single locus,
polycystic kidney and hepatic disease 1 (PKHD1), with over 270 pathogenic mutations
described to date. The high rate of compound heterozygosity in affected individuals has made
genotype-phenotype correlations difficult. A common missense mutation, p.M627K, in exon
20 of PKHD1 was identified previously on the majority of ARPKD disease associated alleles
in the Afrikaans population of South Africa suggesting the presence of a founder effect.
The aim of this study was to describe the clinical phenotype of ARPKD in Afrikaans speaking
individuals found to be homozygous for the common mutation, and to compare this phenotype
to previously described cohorts of patients with ARPKD, known to harbour a spectrum of
mutations. This descriptive study used retrospective data collected from records of patients
with ARPKD at Johannesburg and Pretoria Academic Hospitals. Twenty seven individuals
from 24 families were included in the study.
Marked clinical variability was demonstrated within this subject group supporting the
limitation of genotype-phenotype correlation described worldwide. ARPKD was diagnosed at
a median age of 27 days, older than a North American cohort (NAC) born after 1990 (median
age of 1 day). The majority (93%) of subjects in this study were diagnosed with chronic renal
v
insufficiency (CRI) and hypertension (HT), indicating the renal morbidities to be more
common than noted in previous studies, but occurring at a later median age (1.4 years vs 13.5
days in the NAC). This may indicate a trend toward milder expression of renal morbidities in
the present study. Portal hypertension was also diagnosed more frequently (81%) than in
previous studies but at a younger median age (1.3 years vs 2.8 years), although with similar
complication rates. Overall statistical correlation was found between the renal and hepatic
related morbidities in this study, indicating that progression of the condition is not organ
specific. A survival rate of 89% at one year is comparable to previous studies with similar
patient ascertainment.
This cohort represents the largest series of patients affected by ARPKD with a common
mutation, described to date. The findings will provide for more accurate, specific and
informative genetic counselling in families with ARPKD and may present a resource for
future studies of modifier genes and environmental influences on the phenotypic expression of
ARPKD.
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Narrowing of the autosomal recessive polycystic kidney disease critical region in a Newfoundland family /Frost, Toby, January 2000 (has links)
Thesis (M.Sc.)--Memorial University of Newfoundland, 2000. / Restricted until November 2001. Bibliography: leaves 82-97.
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Characterization of interactions involving the polycystic kidney disease-causing proteins SamCystin and Bicc1 /Stagner, Emily E. January 2008 (has links)
Thesis (M.S.)--University of Missouri-Columbia, 2008. / The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file. Includes bibliographical references.
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The genetic and molecular characterization of the polycystic kidney disease-causing mouse gene BICC1Price, Sarah J. January 2004 (has links)
Thesis (Ph. D.)--Marshall University, 2004. / Title from document title page. Document formatted into pages; contains p. viii, 210 p. Includes abstract. Includes bibliographical references (p. 179-204).
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Urinary Metabolomics to Detect Polycystic Kidney Disease at Early StageObidan, Amnah Mahmoud January 2017 (has links)
No description available.
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Development of Therapies to Treat Polycystic Kidney DiseaseFlaig, Stephanie Marge 06 March 2013 (has links)
Indiana University-Purdue University Indianapolis (IUPUI) / Polycystic kidney diseases (PKD) are genetic disorders characterized by fluid filled cysts in the kidney tubules and liver bile ducts. There are two forms of PKD, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The focus of the studies in this thesis has been on ADPKD. The disease progresses slowly and the fluid-filled cysts grow in size due to increased rates of cell proliferation and fluid secretion into the cyst lumen. The expanding cysts compromise the normal kidney function and result in a decrease of renal
function to the point of end-stage renal failure in midlife. Cyst enlargement is due, at least in part, to chloride secretion via the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. Currently therapy is limited to renal cyst aspiration, dialysis, and eventually renal transplantation after organ failure, thus it has critical to determine possible drug therapies for the treatment of PKD.
Previous studies showed that cyst fluid caused a secretory response in cells lining the cysts. We hypothesized that once the cyst have expanded and become so large that they burst or leak, which could also occur due to renal injury or aging, the cyst fluid may stimulate additional cyst growth. Lysophosphatidic Acid (LPA) was determined to be the active component of human cyst fluid, and we investigated the LPA stimulated signaling pathway.
Our data suggest that the LPA stimulates chloride and fluid secretion by a combination of CFTR and Calcium-Activated chloride channels (CaCC) and that the two channels may functionally be linked to each other. The secretion is not occurring through a cAMP stimulated pathway, and it is possible that TMEM16A, a CaCC, plays a larger role than previously expected.
Previous studies demonstrated that PPARγ agonists, insulin sensitizing drugs used to treat diabetes, inhibit chloride secretion by the collecting duct principal cells by decreasing CFTR synthesis. It was logical therefore to considered PPARγ agonists as long-term treatment for PKD. The first preclinical studied showed that high (20 mg/kg BW) dose pioglitazone, a PPARγ agonist, inhibited cyst growth in the PCK rat model, a
slow progressing model, of PKD. To continue to look at the effects of the PPARγ agonists another preclinical study was completed, which tested if there was a class action of PPARγ agonists and if a lower dose was effective in treating the cystic burden. Using the PCK rat model, and another PPARγ agonist, rosiglitazone, a 24 week study was completed using 3 doses (4, 0.4, and 0.04 mg/kg BW). 4 mg/kg BW rosiglitazone is
analogous to 20 mg/kg BW pioglitazone. The data indicated that the rosiglitazone is effective in lowering the cystic burden, and importantly the low dose proved to be
effective. An additional rat model, the W-WPK rapidly progressing model was used to determine efficacy across multiple models, and to determine if there was a way to track
the progress of the disease in a manner analogous to that used in human patients. The animals were treated with pioglitazone using 2 doses (2 and 20 mg/kg BW), and were
imaged using CT scans to track the progress of the disease. The data suggest that pioglitazone was not as effective in the W-WPK rat model as it was the PCK rat model. There was a trend however, that low dose PPARγ agonist was as effective ad high dose. Even more important, the CT scans proved to be an effective way to track the progress of the disease in animal models.
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