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Genetic Diseases of the Kidney by Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald PDF

By Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin

ISBN-10: 0124498515

ISBN-13: 9780124498518

Genetic illnesses of the Kidney identifies and analyzes genetic abnormalities inflicting renal ailments in human topics. even supposing in a feeling the genome includes all of the directions required for the formation of a phenotype, the knowledge is encoded in a really complex type. In basic genetic ailments, the genetic guide specifies a phenotype truly associated with a discreet lesion restricted to the kidney. besides the fact that, the genetic disturbance should be imbedded in a sophisticated physiologic ensemble, in order that the nexus among the genetic disturbance and the phenotype could be obscured; consequently, the causal series is intensely tough to resolve. oftentimes the renal affliction is one component to a classy systemic hereditary ailment, both monogenic or polygenic. certainly, renal affliction may perhaps come up because the sum of juvenile inputs from many alternative, likely unrelated genes, in order that the genetic contributions might be tricky to spot. Confounding the matter additional are environmental impacts, originating both within the chromosomal surroundings from modifier genes, or within the extra-chromosomal environmental from intrauterine or postnatal affects. those concerns have decided either the association of the textual content in addition to the special description of the genetic problems and the physiologic derangements that emerge.- Lays the fundamental beginning of mammalian genetics rules for doctors with little to no history in genetics- Analyzes particular renal illnesses - either monogenic issues constrained to the kidney in addition to systemic illnesses with renal involvement - and explains their genetic causes.- World-renowned editors and authors supply specialist frameworks for figuring out the hyperlinks among genes and complicated scientific problems (i.e., lupus, diabetes, HIV, and high blood pressure)

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2006; 97: 1690–9. Herz J, Beffert U. Apolipoprotein E receptors: linking brain development and Alzheimer’s disease. Nat. Rev. Neurosci. 2000; 1: 51–8. indd 23 23 Hinds DA, Stuve LL, Nilsen GB, et al. Whole-genome patterns of common DNA variation in three human populations. Science 2005; 307: 1072–9. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat. Rev. Genet. 2005; 6: 95–108. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

Opin. Obstet. Gynecol. 2004; 16: 159–62. Barenboim M, Masso M, Vaisman II, Jamison DC. Statistical geometry based prediction of nonsynonymous SNP functional effects using random forest and neuro-fuzzy classifiers. Proteins 2008. (in press) Beaudet AL, Belmont JW. Array-based DNA diagnostics: let the revolution begin. Annu. Rev. Med. 2008; 59: 113–29. Bentley DR. Whole-genome re-sequencing. Curr. Opin. Genet. Dev. 2006; 16: 545–52. Bertelli R, Ginevri F, Caridi G, et al. Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin.

Thus, the American College of Medical Genetics recommends that couples seeking prenatal diagnosis for adult-onset conditions should be referred for formal genetic counseling and complete discussion of the associated issues (Wilfond & ASHG Social Issues Committee 1995). Preimplantation genetic diagnosis (PGD) is performed on early embryos resulting from in vitro fertilization before implantation in order to decrease the chance of a specific genetic disorder occurring in the fetus (Fragouli 2007).

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Genetic Diseases of the Kidney by Richard P. Lifton, Stefan Somlo, Gerhard H. Giebisch, Donald W. Seldin

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