metal metabolism disorder

Literature (10)

Literature for DOID 896: metal metabolism disorder

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations., Schimanski LM,Drakesmith H,Merryweather-Clarke AT,Viprakasit V,Edwards JP,Sweetland E,Bastin JM,Cowley D,Chinthammitr Y,Robson KJ,Townsend AR, Blood. May 15, 2005; 105(10):1528-0020.
Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia., Chubanov V,Waldegger S,Mederos y Schnitzler M,Vitzthum H,Sassen MC,Seyberth HW,Konrad M,Gudermann T, Proc Natl Acad Sci U S A. March 2, 2004; 101(9):1091-6490.
The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing., Brown EM,Pollak M,Chou YH,Seidman CE,Seidman JG,Hebert SC, J Nutr. July 1, 1995; 125(7 Suppl):1541-6100.
Impaired iron transport activity of ferroportin 1 in hereditary iron overload., McGregor JA,Shayeghi M,Vulpe CD,Anderson GJ,Pietrangelo A,Simpson RJ,McKie AT, J Membr Biol. July 1, 2005; 206(1):1432-1424.
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis., Mi W,Rybalchenko V,Cannon SC, J Gen Physiol. August 1, 2014; 144(2):1540-7748.
Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.
Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels., Wu F,Quinonez M,DiFranco M,Cannon SC, J Gen Physiol. March 5, 2018; 150(3):1540-7748.
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms., Sampedro Castañeda M,Zanoteli E,Scalco RS,Scaramuzzi V,Marques Caldas V,Conti Reed U,da Silva AMS,O'Callaghan B,Phadke R,Bugiardini E,Sud R,McCall S,Hanna MG,Poulsen H,Männikkö R,Matthews E, Brain. December 1, 2018; 141(12):1460-2156.
Evaluation of mutant muscle Ca2+ channel properties using two different expression systems., Allard B, J Gen Physiol. July 2, 2018; 150(7):1540-7748.
BK channel openers NS1619 and NS11021 reverse hydrogen peroxide-induced membrane potential changes in skeletal muscle., Coskun C,Buyuknacar HS,Cicek F,Gunay I, J Recept Signal Transduct Res. October 1, 2020; 40(5):1532-4281.

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations., Schimanski LM,Drakesmith H,Merryweather-Clarke AT,Viprakasit V,Edwards JP,Sweetland E,Bastin JM,Cowley D,Chinthammitr Y,Robson KJ,Townsend AR, Blood. May 15, 2005; 105(10):1528-0020.

Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia., Chubanov V,Waldegger S,Mederos y Schnitzler M,Vitzthum H,Sassen MC,Seyberth HW,Konrad M,Gudermann T, Proc Natl Acad Sci U S A. March 2, 2004; 101(9):1091-6490.

The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing., Brown EM,Pollak M,Chou YH,Seidman CE,Seidman JG,Hebert SC, J Nutr. July 1, 1995; 125(7 Suppl):1541-6100.

Impaired iron transport activity of ferroportin 1 in hereditary iron overload., McGregor JA,Shayeghi M,Vulpe CD,Anderson GJ,Pietrangelo A,Simpson RJ,McKie AT, J Membr Biol. July 1, 2005; 206(1):1432-1424.

Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis., Mi W,Rybalchenko V,Cannon SC, J Gen Physiol. August 1, 2014; 144(2):1540-7748.

Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.

Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels., Wu F,Quinonez M,DiFranco M,Cannon SC, J Gen Physiol. March 5, 2018; 150(3):1540-7748.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms., Sampedro Castañeda M,Zanoteli E,Scalco RS,Scaramuzzi V,Marques Caldas V,Conti Reed U,da Silva AMS,O'Callaghan B,Phadke R,Bugiardini E,Sud R,McCall S,Hanna MG,Poulsen H,Männikkö R,Matthews E, Brain. December 1, 2018; 141(12):1460-2156.

Evaluation of mutant muscle Ca2+ channel properties using two different expression systems., Allard B, J Gen Physiol. July 2, 2018; 150(7):1540-7748.

BK channel openers NS1619 and NS11021 reverse hydrogen peroxide-induced membrane potential changes in skeletal muscle., Coskun C,Buyuknacar HS,Cicek F,Gunay I, J Recept Signal Transduct Res. October 1, 2020; 40(5):1532-4281.