Hereditary nephrogenic diabetes insipidus in Japanese patients : analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2

• Material Type: 記事
• Title: Hereditary nephrogenic diabetes insipidus in Japanese patients : analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2
• Author/Editor: Sei Sasaki; Motoko Chiga; Eriko Kikuchi
• Publication, Distribution, etc.: 日本 : Springer Nature
• Publication Date: 2012-11-14
• Publication Date (W3CDTF): 2012-11-14
• Periodical title: Clinical and experimental nephrology : official publication of the Japanese Society of Nephrology
• No. or year of volume/issue: 17(3)
• Volume: 17(3)
• ISSN (Periodical Title): 1437-7799
• ISSN-L (Periodical Title): 1437-7799
• Text Language Code: eng
• DOI: 10.1007/s10157-012-0726-z; https://doi.org/10.1007/s10157-012-0726-z
• Persistent ID (NDL): info:ndljp/pid/11565078; https://dl.ndl.go.jp/pid/11565078
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他; https://dl.ndl.go.jp/collections/B00035
• Acquisition Basis: オンライン資料収集制度
• Date Accepted (W3CDTF): 2020-11-02T20:59:40+09:00
• Date Captured (W3CDTF): 2020-06-30
• Format (IMT): application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Periodical Title (URI): https://link.springer.com/journal/10157/17/3
• Periodical Title (Persistent ID (NDL)): info:ndljp/pid/11565075; https://dl.ndl.go.jp/pid/11565075
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

• Summary, etc.: コレクション : 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他
• DOI: 10.1007/s10157-012-0726-z; https://doi.org/10.1007/s10157-012-0726-z
• Access Restrictions: インターネット公開
• Related Material (URI): http://id.ndl.go.jp/digimeta/11565078; https://dl.ndl.go.jp/pid/11565078; http://link.springer.com/content/pdf/10.1007/s10157-012-0726-z.pdf; http://link.springer.com/article/10.1007/s10157-012-0726-z/fulltext.html; http://link.springer.com/content/pdf/10.1007/s10157-012-0726-z
• Is Referenced By: Wnt5a induces renal AQP2 expression by activating calcineurin signalling pathway; https://cir.nii.ac.jp/crid/1360283691779394944; AKAPs-PKA disruptors increase AQP2 activity independently of vasopressin in a model of nephrogenic diabetes insipidus; https://cir.nii.ac.jp/crid/1360846641753475712; 5．チャネル・トランスポーターと腎疾患; https://cir.nii.ac.jp/crid/1390001206447478400; 4．腎臓による体液恒常性維持機構とその破綻; https://cir.nii.ac.jp/crid/1390001206447647872; Identification of a novel missense variant in the <i>AVP</i> gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus; https://cir.nii.ac.jp/crid/1390021293451294080; Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant; https://cir.nii.ac.jp/crid/1390572092344559616; Activation of AQP2 water channels by protein kinase A : therapeutic strategies for congenital nephrogenic diabetes insipidus; https://cir.nii.ac.jp/crid/2051151842060103424
• References: Aquaporin 2: From its discovery to molecular structure and medical implications; https://cir.nii.ac.jp/crid/1360004232352077696; Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus; https://cir.nii.ac.jp/crid/1360011145132747264; AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance; https://cir.nii.ac.jp/crid/1360292619249153792; p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation; https://cir.nii.ac.jp/crid/1360292619576557824; Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.; https://cir.nii.ac.jp/crid/1360292621436295424; Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus; https://cir.nii.ac.jp/crid/1360574095368153984; Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus; https://cir.nii.ac.jp/crid/1360855569300643840; Familial forms of diabetes insipidus: clinical and molecular characteristics; https://cir.nii.ac.jp/crid/1361137044537042944; Nephrogenic Diabetes Insipidus; https://cir.nii.ac.jp/crid/1361137046382129664; Aquaporin 2 Mutations in Nephrogenic Diabetes Insipidus; https://cir.nii.ac.jp/crid/1361418518837111680; A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene; https://cir.nii.ac.jp/crid/1361418519391544448; Lack of Arginine Vasopressin–Induced Phosphorylation of Aquaporin-2 Mutant AQP2-R254L Explains Dominant Nephrogenic Diabetes Insipidus; https://cir.nii.ac.jp/crid/1361418520770931072; Aquaporins in kidney pathophysiology; https://cir.nii.ac.jp/crid/1361699994422432256; Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene; https://cir.nii.ac.jp/crid/1361981469380960384; Congenital nephrogenic diabetes insipidus: the current state of affairs; https://cir.nii.ac.jp/crid/1361981469617715584; Proposed cause of marked vasopressin resistance in a female with an X- linked recessive V2 receptor abnormality; https://cir.nii.ac.jp/crid/1361981470443780480; Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-dependent Concentration of Urine; https://cir.nii.ac.jp/crid/1362262943586071552; Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes; https://cir.nii.ac.jp/crid/1362825893588920576; Molecular cloning of the receptor for human antidiuretic hormone; https://cir.nii.ac.jp/crid/1362825893626518912; Clinical Characteristics of Eight Patients with Congenital Nephrogenic Diabetes Insipidus; https://cir.nii.ac.jp/crid/1362825896007639680; Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus; https://cir.nii.ac.jp/crid/1362825896386052608; Nephrogenic diabetes insipidus: update of genetic and clinical aspects; https://cir.nii.ac.jp/crid/1363388844172089728; Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation; https://cir.nii.ac.jp/crid/1363670319773356544; Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations; https://cir.nii.ac.jp/crid/1363670320366223616; Detection of Skewed X-Inactivation in Two Female Carriers of Vasopressin Type 2 Receptor Gene Mutation; https://cir.nii.ac.jp/crid/1363951793801851520; Cloning and expression of apical membrane water channel of rat kidney collecting tubule; https://cir.nii.ac.jp/crid/1363951794040046592; X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.; https://cir.nii.ac.jp/crid/1364233268730444416; Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation; https://cir.nii.ac.jp/crid/1364233271121642752; Water Intake and 24-hour Blood Pressure Monitoring in a Patient with Nephrogenic Diabetes Insipidus Caused by a Novel Mutation of the Vasopressin V2R Gene.; https://cir.nii.ac.jp/crid/1390001204868583936; Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus; https://cir.nii.ac.jp/crid/1390001206297850240; Correlation between Clinical Phenotypes and X-inactivation Patterns in Six Female Carriers with Heterozygote Vasopressin Type 2 Receptor Gene Mutations; https://cir.nii.ac.jp/crid/1390001206298876288
• Data Provider (Database): 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• Original Data Provider (Database): 雑誌記事索引データベース; https://ndlsearch.ndl.go.jp; Crossref; https://www.crossref.org; 科学研究費助成事業データベース; https://kaken.nii.ac.jp/ja
• Bibliographic ID (NDL): 11565078; http://id.ndl.go.jp/bib/11565078