[
    {
        "title": "Characterization of the sodium/hydrogen exchanger NHA2.",
        "journal": "Journal of the American Society of Nephrology : JASN",
        "date": "2008",
        "authors": "Fuster DG, Zhang J, Shi M, Bobulescu IA, Andersson S, Moe OW",
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        "title": "Regulation of ASIC activity by ASIC4--new insights into ASIC channel function revealed by a yeast two-hybrid assay.",
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    {
        "title": "TMEM16A confers receptor-activated calcium-dependent chloride conductance.",
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    {
        "title": "Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons.",
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        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
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        "authors": "Soundararajan R, Melters D, Shih IC, Wang J, Pearce D",
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    {
        "title": "NAADP mobilizes calcium from acidic organelles through two-pore channels.",
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    {
        "title": "Dissociation of calmodulin from cardiac ryanodine receptor causes aberrant Ca(2+) release in heart failure.",
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        "date": "2010",
        "authors": "Ono M, Yano M, Hino A, Suetomi T, Xu X, Susa T, Uchinoumi H, Tateishi H, Oda T, Okuda S, Doi M, Kobayashi S, Yamamoto T, Koseki N, Kyushiki H, Ikemoto N, Matsuzaki M",
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        "title": "The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.",
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    {
        "title": "Serum and glucocorticoid-induced kinase (SGK) 1 and the epithelial sodium channel are regulated by multiple with no lysine (WNK) family members.",
        "journal": "The Journal of biological chemistry",
        "date": "2010",
        "authors": "Heise CJ, Xu BE, Deaton SL, Cha SK, Cheng CJ, Earnest S, Sengupta S, Juang YC, Stippec S, Xu Y, Zhao Y, Huang CL, Cobb MH",
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        "title": "Barttin activates ClC-K channel function by modulating gating.",
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        "title": "Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex.",
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        "title": "ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.",
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        "title": "The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels.",
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        "authors": "Scudieri P, Sondo E, Ferrera L, Galietta LJ",
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    {
        "title": "Anoctamins and gastrointestinal smooth muscle excitability.",
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        "date": "2012-02",
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    {
        "title": "Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.",
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        "title": "Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene.",
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    {
        "title": "Structure and dynamics of human Nedd4-1 WW3 in complex with the \u03b1ENaC PY motif.",
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        "title": "A novel exon in the human Ca2+-activated Cl- channel Ano1 imparts greater sensitivity to intracellular Ca2.",
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    {
        "title": "Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein.",
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        "title": "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues.",
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        "title": "Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.",
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        "title": "Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney.",
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    {
        "title": "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).",
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        "title": "Inhibition of the epithelial Na+ channel by interaction of Nedd4 with a PY motif deleted in Liddle's syndrome.",
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        "title": "Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).",
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        "authors": "van den Heuvel LP, Assink K, Willemsen M, Monnens L",
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                                "description": ""
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                                "id": "DOID:0070613",
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                                "name": "familial renal glycosuria",
                                "description": ""
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                                "description": "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)."
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009297",
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                                "url": "https://www.omim.org/entry/233100",
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                                "description": "Renal glucosuria"
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        "title": "Molecular analysis of the SGLT2 gene in patients with renal glucosuria.",
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        "authors": "Santer R, Kinner M, Lassen CL, Schneppenheim R, Eggert P, Bald M, Brodehl J, Daschner M, Ehrich JH, Kemper M, Li Volti S, Neuhaus T, Skovby F, Swift PG, Schaub J, Klaerke D",
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        "title": "Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients.",
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    {
        "title": "Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009297",
                                "name": "familial renal glucosuria",
                                "description": "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)."
                            },
                            {
                                "id": "MONDO:0009297",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009297",
                                "name": "Renal Glycosuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009297",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009297",
                                "name": "SGLT2 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009297",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009297",
                                "name": "familial renal glucosuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009297",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009297",
                                "name": "GLYS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009297",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009297",
                                "name": "renal glucosuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009297",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009297",
                                "name": "renal glycosuria",
                                "description": ""
                            },
                            {
                                "id": "MIM:233100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/233100",
                                "name": "Renal glucosuria",
                                "description": "Renal glucosuria"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "233100",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/233100"
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                            {
                                "id": "0070613",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070613"
                            }
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                ],
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        ]
    },
    {
        "title": "Characterization of the transport activity of SGLT2/MAP17, the renal low-affinity Na(+)-glucose cotransporter.",
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        "date": "2017",
        "authors": "Coady MJ, Wallendorff B, Lapointe JY",
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            "type": "PubMed",
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        ],
        "record_id": "pubmed.28592437",
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        "title": "Structural basis of inhibition of the human SGLT2-MAP17 glucose transporter.",
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