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Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation

Autor: Bingham, Coralie ^*, Ellard, Sian, van't Hoff, William G., Simmonds, H. Anne, Marinaki, Anthony M., Badman, Michael K., Winocour, Peter H., Stride, Amanda, Lockwood, Christopher R., Nicholls, Anthony J., Owen, Katharine R., Spyer, Ghislaine, Pearson, Ewan R., Hattersley, Andrew T.

Publikováno v: In Kidney International May 2003 63(5):1645-1651

Childhood thin GBM disease: review of 22 children with family studies and long-term follow-up.

Autor: Carasi, Carla¹ isarac@libero.it, Van't Hoff, William G.², Rees, Lesley², Risdon, R. Anthony³, Trompeter, Richard S.², Dillon, Michael J.²

Publikováno v: Pediatric Nephrology. Aug2005, Vol. 20 Issue 8, p1098-1105. 8p.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects

Autor: Hannan, Fadil M, Howles, Sarah A, Rogers, Angela, Cranston, Treena, Gorvin, Caroline M, Babinsky, Valerie N, Reed, Anita A, Thakker, Clare E, Bockenhauer, Detlef, Brown, Rosalind S, Connell, John M, Cook, Jacqueline, Darzy, Ken, Ehtisham, Sarah, Graham, Una, Hulse, Tony, Hunter, Steven J, Izatt, Louise, Kumar, Dhavendra, McKenna, Malachi J, McKnight, John A, Morrison, Patrick J, Mughal, M Zulf, O'Halloran, Domhnall, Pearce, Simon H, Porteous, Mary E, Rahman, Mushtaqur, Richardson, Tristan, Robinson, Robert, Scheers, Isabelle, Siddique, Haroon, Van't Hoff, William G, Wang, Timothy, Whyte, Michael P, Nesbit, M Andrew, Thakker, Rajesh V

Publikováno v: Human Molecular Genetics
Hannan, F M, Howles, S A, Rogers, A, Cranston, T, Gorvin, C M, Babinsky, V N, Reed, A A, Thakker, C E, Bockenhauer, D, Brown, R S, Connell, J M, Cook, J, Darzy, K, Ehtisham, S, Graham, U, Hulse, T, Hunter, S J, Izatt, L, Kumar, D, McKenna, M J, McKnight, J A, Morrison, P J, Mughal, M Z, O'Halloran, D, Pearce, S H, Porteous, M E, Rahman, M, Richardson, T, Robinson, R, Scheers, I, Siddique, H, van't Hoff, W G, Wang, T, Whyte, M P, Nesbit, M A & Thakker, R V 2015, ' Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects ', Human Molecular Genetics, vol. 24, no. 18, pp. 5079-5092 . https://doi.org/10.1093/hmg/ddv226
Human Molecular Genetics, Vol. 24, no.18, p. 5079-5092 (2015)

The adaptor protein-2 sigma subunit (AP2sigma;2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2sigma;2 Arg15 residue result in familial hypocalciuric hype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::351ab40b87e72000ea90a72357fa2c2a
https://doi.org/10.1093/hmg/ddv226

Renal Manifestations of Metabolic Disorders in Children.

Autor: Emma, Francesco, van't Hoff, William G., Dionisi Vici, Carlo

Publikováno v: Pediatric Nephrology (9783662435953); 2016, p1569-1607, 39p