Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment

Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies performed in humans and mutant mice have implicated a number of critical genes, in utero environmental factor...

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Published inPediatric research Vol. 68; no. 2; pp. 91 - 98
Main Authors Cain, Jason E, Di Giovanni, Valeria, Smeeton, Joanna, Rosenblum, Norman D
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.08.2010
Lippincott Williams & Wilkins
Subjects
Animals
Biological and medical sciences
Cell Differentiation
Cell Lineage
Cell Survival
Environment
Female
Humans
Kidney - abnormalities
Kidney - anatomy & histology
Kidney - embryology
Kidney Diseases - etiology
Kidney Diseases - genetics
Kidney Diseases - pathology
Kidneys
Malformations of the urinary system
Medical sciences
Medicine
Medicine & Public Health
Mesoderm - anatomy & histology
Mesoderm - physiology
Mutation
Nephrology. Urinary tract diseases
Nephrons - abnormalities
Nephrons - anatomy & histology
Nephrons - embryology
Pediatric Surgery
Pediatrics
Pregnancy
Prenatal Exposure Delayed Effects
review
Stem Cells - cytology
Stem Cells - physiology
Stromal Cells - cytology
Stromal Cells - physiology
Ureter - cytology
Kidney disease
Human
Pediatrics
Urinary system disease
Pathogenesis
Rodentia
Kidney hypoplasia
Review
Congenital disease
Vertebrata
Mammalia
Mouse
Malformation
Animal
Development
Nephron
Genetics
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Abstract Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies performed in humans and mutant mice have implicated a number of critical genes, in utero environmental factors and molecular mechanisms that regulate nephron endowment and kidney size. Here, we review current knowledge regarding the genetic contributions to renal hypoplasia with particular emphasis on the mechanisms that control nephron endowment in humans and mice.
AbstractList Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies performed in humans and mutant mice have implicated a number of critical genes, in utero environmental factors and molecular mechanisms that regulate nephron endowment and kidney size. Here, we review current knowledge regarding the genetic contributions to renal hypoplasia with particular emphasis on the mechanisms that control nephron endowment in humans and mice.
Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies performed in humans and mutant mice have implicated a number of critical genes, in utero environmental factors and molecular mechanisms that regulate nephron endowment and kidney size. Here, we review current knowledge regarding the genetic contributions to renal hypoplasia with particular emphasis on the mechanisms that control nephron endowment in humans and mice.
Author Rosenblum, Norman D
Cain, Jason E
Smeeton, Joanna
Di Giovanni, Valeria
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  givenname: Valeria
  surname: Di Giovanni
  fullname: Di Giovanni, Valeria
  organization: Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Departments of Laboratory Medicine and Pathobiology, University of Toronto
– sequence: 3
  givenname: Joanna
  surname: Smeeton
  fullname: Smeeton, Joanna
  organization: Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Departments of Laboratory Medicine and Pathobiology, University of Toronto
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  givenname: Norman D
  surname: Rosenblum
  fullname: Rosenblum, Norman D
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  organization: Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Division of Nephrology, The Hospital for Sick Children, Departments of Laboratory Medicine and Pathobiology, University of Toronto, Paediatrics, University of Toronto, Physiology, University of Toronto
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Issue 2
Keywords Kidney disease
Human
Pediatrics
Urinary system disease
Pathogenesis
Rodentia
Kidney hypoplasia
Review
Congenital disease
Vertebrata
Mammalia
Mouse
Malformation
Animal
Development
Nephron
Genetics
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Snippet Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and...
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SubjectTerms Animals
Biological and medical sciences
Cell Differentiation
Cell Lineage
Cell Survival
Environment
Female
Humans
Kidney - abnormalities
Kidney - anatomy & histology
Kidney - embryology
Kidney Diseases - etiology
Kidney Diseases - genetics
Kidney Diseases - pathology
Kidneys
Malformations of the urinary system
Medical sciences
Medicine
Medicine & Public Health
Mesoderm - anatomy & histology
Mesoderm - physiology
Mutation
Nephrology. Urinary tract diseases
Nephrons - abnormalities
Nephrons - anatomy & histology
Nephrons - embryology
Pediatric Surgery
Pediatrics
Pregnancy
Prenatal Exposure Delayed Effects
review
Stem Cells - cytology
Stem Cells - physiology
Stromal Cells - cytology
Stromal Cells - physiology
Ureter - cytology
Title Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment
URI https://link.springer.com/article/10.1203/PDR.0b013e3181e35a88
https://www.ncbi.nlm.nih.gov/pubmed/20421843
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