Novel mutations underlying nephrogenic diabetes insipidus in Arab families

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Genetics in Medicine

• Publication date

  2006-07-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/01.gim.0000223554.46981.7aPMID 16845277
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Nephrogenic diabetes insipidus.

  2006cited by this paper
• Strategies for the prevention of hereditary diseases in a highly consanguineous population

  2005cited by this paper
• Molecular biology of hereditary diabetes insipidus.

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• Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.

  2004cited by this paper
• Human Gene Mutation Database (HGMD®): 2003 update

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  2002cited by this paper
• Nephrogenic diabetes insipidus.

  2001cited by this paper
• Diffusion in the Endoplasmic Reticulum of an Aquaporin-2 Mutant Causing Human Nephrogenic Diabetes Insipidus*

  2001cited by this paper
• Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.

  2001cited by this paper
• Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

  2000cited by this paper
• Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

  2000cited by this paper
• Defective Processing and Trafficking of Water Channels in Nephrogenic Diabetes insipidus

  2000cited by this paper
• Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.

  2000cited by this paper
• Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus

  1999cited by this paper
• Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.

  1998cited by this paper
• AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.

  1998cited by this paper
• Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.

  1997cited by this paper
• Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation.

  1997cited by this paper
• Asymmetric mutation around the recombination break point of immunoglobulin class switch sequences on extrachromosomal substrates.

  1996cited by this paper
• Molecular and cellular defects in nephrogenic diabetes insipidus.

  1996cited by this paper
• Functional characterization and cell immunolocalization of AQP-CD water channel in kidney collecting duct

  1995cited by this paper
• Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.

  1994cited by this paper
• Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13.

  1994cited by this paper
• Functional characterization and cell immunolocalization of AQP-CD water channel in kidney collecting duct.

  1994cited by this paper
• Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.

  1994cited by this paper
• Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

  1992cited by this paper
• The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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• Receptors to vasopressin and other hormones in the mammalian kidney.

  1987cited by this paper

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• Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families

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  2018cites this paper
• Genetics of Diabetes Insipidus.

  2017cites this paper
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  2015cites this paper
• Evolutionary Influenced Interaction Pattern as Indicator for the Investigation of Natural Variants Causing Nephrogenic Diabetes Insipidus

  2015cites this paper
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• X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy

  2014cites this paper
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  2013cites this paper
• Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology

  2012cites this paper
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  2012cites this paper
• Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.

  2012influential citation
• V2 Vasopressin Receptor (V2R) Mutations in Partial Nephrogenic Diabetes Insipidus Highlight Protean Agonism of V2R Antagonists*

  2011cites this paper
• Genetic Disorders in Saudi Arabia

  2010cites this paper
• Appendix: Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders

  2010cites this paper
• Compound heterozygous mutation of aquaporin 2 gene in woman patient with congenital nephrogenic diabetes insipidus.

  2009cites this paper
• Regulation of aquaporin-2 trafficking.

  2009cites this paper
• Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock‐in mouse model of aquaporin‐2 mutation

  2009cites this paper
• Aquaporin 2 mutations in nephrogenic diabetes insipidus.

  2008cites this paper
• AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

  2008cites this paper
• A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus

  2008cites this paper
• Genetic variation in human aquaporins and effects on phenotypes of water homeostasis

  2008cites this paper
• Novel variants in human Aquaporin-4 reduce cellular water permeability.

  2008cites this paper
• Nephrogenic Diabetes Insipidus

  1963cites this paper