Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Transcriptional regulatory factors of the Aqp2 gene.
Jung HJ et al.
Kidney Research and Clinical Practice, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.
Ghasemi S et al.
Molecular Genetics & Genomic Medicine, 2024
Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus.
Hagströmer CJ et al.
Scientific Reports, 2023
Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.
Bissonnette P et al.
Physiological Reports, 2021
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C et al.
Cells, 2020
[Compound heterozygosis with novel AQP2 gene mutation in sisters affected by autosomal congenital nephrogenic diabetes insipidus].
Musone D et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 2020
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
Kor Y et al.
Bmc Medical Genetics, 2018
Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Calvanese L et al.
International Journal of Molecular Sciences, 2018
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.
El Tarazi A et al.
Scientific Reports, 2016
X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking.
Frick A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.
Duzenli D et al.
Endocrine, 2012
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
Leduc-Nadeau A et al.
The Journal of Physiology, 2010
Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation.
Yang B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Regulation of aquaporin-2 trafficking.
Nedvetsky PI et al.
Handbook of Experimental Pharmacology, 2009
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
Aquaporin 2 mutations in nephrogenic diabetes insipidus.
Loonen AJ et al.
Seminars in Nephrology, 2008
Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.
Robben JH et al.
American Journal of Physiology. Renal Physiology, 2006
N-linked oligosaccharides as outfitters for glycoprotein folding, form and function.
Mitra N et al.
Trends in Biochemical Sciences, 2006
Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum.
Buck TM et al.
American Journal of Physiology. Cell Physiology, 2004
Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
Marr N et al.
Journal of the American Society of Nephrology : Jasn, 2002
Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.
Lin SH et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Molecular and cellular defects in nephrogenic diabetes insipidus.
Knoers NV et al.
Pediatric Nephrology (berlin, Germany), 2001
Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus.
Marr N et al.
Pflugers Archiv : European Journal of Physiology, 2001
Pharmacological chaperones: a new twist on receptor folding.
Morello JP et al.
Trends in Pharmacological Sciences, 2000
Routing of the aquaporin-2 water channel in health and disease.
Deen PM et al.
European Journal of Cell Biology, 2000
Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
Pasel K et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus.
Tamarappoo BK et al.
The Journal of Biological Chemistry, 1999
Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression.
Shinbo I et al.
The American Journal of Physiology, 1999
Effects of missense mutations on rat aquaporin-2 in LLC-PK1 porcine kidney cells.
Yamauchi K et al.
Kidney International, 1999
Aquaporin-2 water channel mutations and nephrogenic diabetes insipidus: new variations on a theme.
Rutishauser J et al.
European Journal of Endocrinology, 1999
Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.
Goji K et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
Tamarappoo BK et al.
The Journal of Clinical Investigation, 1998
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.
Canfield MC et al.
Human Molecular Genetics, 1997
New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
Mulders SM et al.
Journal of the American Society of Nephrology : Jasn, 1997
Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
Experimental Nephrology, 0
Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.
van Os CH et al.
Proceedings of the Association of American Physicians, 0