Genetic approaches to human renal agenesis/hypoplasia and dysplasia
نویسندگان
چکیده
منابع مشابه
Genetic approaches to human behavior.
Tremendous progress in the field of human genetics has made a major impact over the last two decades into our understanding of many Mendelian disorders affecting humans. It is much more difficult to approach the genetics of complex disorders and is particularly challenging in the case of dissecting genetics of the wide range of behavioral variation in the general population. Knowledge of the bi...
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Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...
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BACKGROUND Cytokines regulate many processes in the immune system and have recently been implicated in normal organogenesis. We previously demonstrated that the archetypal inflammatory cytokine tumour necrosis factor-alpha (TNF-alpha) is expressed in the murine metanephros, and exogenous TNF-alpha inhibits nephrogenesis and increases macrophage numbers in vitro (Cale et al., Int J Dev Biol 1998...
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Obesity and its associated comorbidities represent one of the biggest public health challenges facing the world today. The heritability of body weight is high, and genetic variation plays a major role in determining the interindividual differences in susceptibility or resistance to the obesogenic environment. Here we discuss how genetic studies in humans have contributed to our understanding of...
متن کاملRenal dysplasia.
SYNOPSIS The clinical and pathological findings in 150 children submitted to partial or total nephrectomy have been reviewed. Histological examination of the kidney removed at operation showed evidence of renal dysplasia in 76 (51 %). These 76 patients were divided into three main groups on the basis of the pathological changes found in the kidney and the associated urinary tract anomalies. In ...
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ژورنال
عنوان ژورنال: Pediatric Nephrology
سال: 2007
ISSN: 0931-041X,1432-198X
DOI: 10.1007/s00467-007-0479-1