Author(s): Miyake CY; Lay EJ; Soler-Alfonso C; Glinton KE; Houck KM; Tosur M; Moran NE; Stephens SB; Scaglia F; Howard TS; Kim JJ; Pham TD; Valdes SO; Li N; Murali CN; Zhang L; Kava M; Yim D; Beach C; Webster G; Liberman L; Janson CM; Kannankeril P ...

Purpose: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study was to defin ...

Article GUID: 36473599

Author(s): Sparapani S, Millet-Boureima C, Oliver J, Mu K, Hadavi P, Kalostian T, Ali N, Avelar CM, Bardies M, Barrow B, Benedikt M, Biancardi G, Bindra R, Bui L, Chihab Z, Cossitt A, Costa J, Daigneault T, Dault J, Davidson I, Dias J, Dufour E, El ...

Vasopressins are evolutionarily conserved peptide hormones. Mammalian vasopressin functions systemically as an antidiuretic and regulator of blood and cardiac flow essential for adapting to terrestrial environments. Moreover, vasopressin acts centrally as a neurohormone involved in social and par ...

Article GUID: 33477721