-
1
-
-
44849143056
-
Why rare diseases are an important medical and social issue
-
Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet 2008; 371: 2039-41.
-
(2008)
Lancet
, vol.371
, pp. 2039-2041
-
-
Schieppati, A.1
Henter, J.I.2
Daina, E.3
Aperia, A.4
-
2
-
-
51249119642
-
35 years of Japanese policy on rare diseases
-
Hayashi S, Umeda T. 35 years of Japanese policy on rare diseases. Lancet 2008; 372: 889-90.
-
(2008)
Lancet
, vol.372
, pp. 889-890
-
-
Hayashi, S.1
Umeda, T.2
-
3
-
-
78649889087
-
A cross-national comparative study of orphan drug policies in The United States, the european union, and Japan: Towards a made-in-China orphan drug policy
-
Liu BC, He L, He G, He Y. A cross-national comparative study of orphan drug policies in the United States, the European Union, and Japan: towards a made-in-China orphan drug policy. J Public Health Policy 2010; 31: 407-20.
-
(2010)
J Public Health Policy
, vol.31
, pp. 407-420
-
-
Liu, B.C.1
He, L.2
He, G.3
He, Y.4
-
4
-
-
84865304588
-
Orphan kidney diseases
-
Soliman NA. Orphan Kidney Diseases. Nephron Clin Pract 2012; 120: c194-99.
-
(2012)
Nephron Clin Pract
, vol.120
-
-
Soliman, N.A.1
-
5
-
-
84901243134
-
-
November (accessed March 31, 2014)
-
Orphanet Report Series: Prevalence of rare diseases. November 2013. http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence-of-rare-diseases-by- decreasing-prevalence-or-cases.pdf (accessed March 31, 2014).
-
(2013)
Orphanet Report Series: Prevalence of Rare Diseases
-
-
-
6
-
-
84859313068
-
Profile of rare diseases
-
Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development Washington, DC: National Academies Press (accessed March 31, 2014)
-
Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development. Profile of rare diseases. Field MJ, Boat TF, eds. Rare diseases and orphan products: accelerating research and development. Washington, DC: National Academies Press, 2010. http://www.ncbi.nlm.nih.gov/books/NBK56184/ (accessed March 31, 2014).
-
(2010)
Rare Diseases and Orphan Products: Accelerating Research and Development
-
-
Field, M.J.1
Boat, T.F.2
-
7
-
-
67651087405
-
EUNEFRON, the european network for the study of orphan nephropathies
-
for the EUNEFRON consortium
-
Devuyst O, Meij I, Jeunemaitre X, et al, for the EUNEFRON consortium. EUNEFRON, the European Network for the Study of Orphan Nephropathies. Nephrol Dial Transplant 2009; 24: 2011-15.
-
(2009)
Nephrol Dial Transplant
, vol.24
, pp. 2011-2015
-
-
Devuyst, O.1
Meij, I.2
Jeunemaitre, X.3
-
8
-
-
84880313916
-
Evolving importance of kidney disease: From subspecialty to global health burden
-
Eckardt KU, Coresh J, Devuyst O, et al. Evolving importance of kidney disease: from subspecialty to global health burden. Lancet 2013; 382: 158-69.
-
(2013)
Lancet
, vol.382
, pp. 158-169
-
-
Eckardt, K.U.1
Coresh, J.2
Devuyst, O.3
-
9
-
-
33947242252
-
Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney
-
Jouret F, Bernard A, Hermans C, et al. Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney. J Am Soc Nephrol 2007; 18: 707-18.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 707-718
-
-
Jouret, F.1
Bernard, A.2
Hermans, C.3
-
10
-
-
84855171766
-
INF2 mutations in charcot-marie-tooth disease with glomerulopathy
-
Boyer O, Nevo F, Plaisier E, et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med 2011; 365: 2377-88.
-
(2011)
N Engl J Med
, vol.365
, pp. 2377-2388
-
-
Boyer, O.1
Nevo, F.2
Plaisier, E.3
-
11
-
-
34547549299
-
Mutations in LRP2, which encodes the multiligand receptor megalin, cause donnai-barrow and facio-oculo-acoustico-renal syndromes
-
Kantarci S, Al-Gazali L, Hill RS, et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo- acoustico-renal syndromes. Nat Genet 2007; 39: 957-59.
-
(2007)
Nat Genet
, vol.39
, pp. 957-959
-
-
Kantarci, S.1
Al-Gazali, L.2
Hill, R.S.3
-
13
-
-
0022410264
-
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
-
Reeders ST, Breuning MH, Davies KE, et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 1985; 317: 542-44.
-
(1985)
Nature
, vol.317
, pp. 542-544
-
-
Reeders, S.T.1
Breuning, M.H.2
Davies, K.E.3
-
14
-
-
0025292712
-
Identification of mutations in the COL4A5 collagen gene in alport syndrome
-
Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990; 248: 1224-27.
-
(1990)
Science
, vol.248
, pp. 1224-1227
-
-
Barker, D.F.1
Hostikka, S.L.2
Zhou, J.3
-
15
-
-
0026744306
-
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
-
Rosenthal W, Seibold A, Antaramian A, et al. Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature 1992; 359: 233-35.
-
(1992)
Nature
, vol.359
, pp. 233-235
-
-
Rosenthal, W.1
Seibold, A.2
Antaramian, A.3
-
16
-
-
0028278058
-
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
-
The European Polycystic Kidney Disease Consortium
-
The European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 1994; 77: 881-94.
-
(1994)
Cell
, vol.77
, pp. 881-894
-
-
-
17
-
-
0027946089
-
Liddle's syndrome: Heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel
-
Shimkets RA, Warnock DG, Bositis CM, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 1994; 79: 407-14.
-
(1994)
Cell
, vol.79
, pp. 407-414
-
-
Shimkets, R.A.1
Warnock, D.G.2
Bositis, C.M.3
-
18
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
Lloyd SE, Pearce SH, Fisher SE, et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996; 379: 445-49.
-
(1996)
Nature
, vol.379
, pp. 445-449
-
-
Lloyd, S.E.1
Pearce, S.H.2
Fisher, S.E.3
-
19
-
-
9044235777
-
Gitelman's variant of bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive na-cl cotransporter
-
Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996; 12: 24-30.
-
(1996)
Nat Genet
, vol.12
, pp. 24-30
-
-
Simon, D.B.1
Nelson-Williams, C.2
Bia, M.J.3
-
20
-
-
0030032699
-
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the na-K-2Cl cotransporter NKCC2
-
Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996; 13: 183-88.
-
(1996)
Nat Genet
, vol.13
, pp. 183-188
-
-
Simon, D.B.1
Karet, F.E.2
Hamdan, J.M.3
DiPietro, A.4
Sanjad, S.A.5
Lifton, R.P.6
-
21
-
-
0031945551
-
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
-
Town M, Jean G, Cherqui S, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 1998; 18: 319-24.
-
(1998)
Nat Genet
, vol.18
, pp. 319-324
-
-
Town, M.1
Jean, G.2
Cherqui, S.3
-
22
-
-
0034034757
-
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
-
Boute N, Gribouval O, Roselli S, et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000; 24: 349-54.
-
(2000)
Nat Genet
, vol.24
, pp. 349-354
-
-
Boute, N.1
Gribouval, O.2
Roselli, S.3
-
23
-
-
0036914069
-
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
-
Hart TC, Gorry MC, Hart PS, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002; 39: 882-92.
-
(2002)
J Med Genet
, vol.39
, pp. 882-892
-
-
Hart, T.C.1
Gorry, M.C.2
Hart, P.S.3
-
24
-
-
77957557692
-
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
-
Otto EA, Hurd TW, Airik R, et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010; 42: 840-50.
-
(2010)
Nat Genet
, vol.42
, pp. 840-850
-
-
Otto, E.A.1
Hurd, T.W.2
Airik, R.3
-
25
-
-
84895887522
-
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
-
Tory K, Menyhárd DK, Woerner S, et al. Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat Genet 2014; 46: 299-304.
-
(2014)
Nat Genet
, vol.46
, pp. 299-304
-
-
Tory, K.1
Menyhárd, D.K.2
Woerner, S.3
-
26
-
-
0034118221
-
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants
-
Morello JP, Salahpour A, Laperrière A, et al. Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J Clin Invest 2000; 105: 887-95.
-
(2000)
J Clin Invest
, vol.105
, pp. 887-895
-
-
Morello, J.P.1
Salahpour, A.2
Laperrière, A.3
-
27
-
-
70350509583
-
Successful treatment of the murine model of cystinosis using bone marrow cell transplantation
-
Syres K, Harrison F, Tadlock M, et al. Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood 2009; 114: 2542-52.
-
(2009)
Blood
, vol.114
, pp. 2542-2552
-
-
Syres, K.1
Harrison, F.2
Tadlock, M.3
-
28
-
-
77950462459
-
Genetic kidney diseases
-
Hildebrandt F. Genetic kidney diseases. Lancet 2010; 375: 1287-95.
-
(2010)
Lancet
, vol.375
, pp. 1287-1295
-
-
Hildebrandt, F.1
-
29
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W, Foo JN, O'Roak BJ, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40: 592-99.
-
(2008)
Nat Genet
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
-
30
-
-
67649732906
-
Challenges of translating genetic tests into clinical and public health practice
-
Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet 2009; 10: 489-95.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 489-495
-
-
Rogowski, W.H.1
Grosse, S.D.2
Khoury, M.J.3
-
31
-
-
84890700165
-
Primary care and genetics and genomics
-
Scott J, Trotter T. Primary care and genetics and genomics. Pediatrics 2013; 132 (suppl 3): S231-37.
-
(2013)
Pediatrics
, vol.132
, Issue.SUPPL. 3
-
-
Scott, J.1
Trotter, T.2
-
32
-
-
84875701332
-
Design of the nephrotic syndrome study network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach
-
Gadegbeku CA, Gipson DS, Holzman LB, et al. Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. Kidney Int 2013; 83: 749-56.
-
(2013)
Kidney Int
, vol.83
, pp. 749-756
-
-
Gadegbeku, C.A.1
Gipson, D.S.2
Holzman, L.B.3
-
33
-
-
85027934863
-
Bartter- and gitelman-like syndromes: Salt-losing tubulopathies with loop or DCT defects
-
Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol 2011; 26: 1789-802.
-
(2011)
Pediatr Nephrol
, vol.26
, pp. 1789-1802
-
-
Seyberth, H.W.1
Schlingmann, K.P.2
-
34
-
-
75749103271
-
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
-
for the Société Française de Foetopathologie
-
Denamur E, Delezoide AL, Alberti C, et al, for the Société Française de Foetopathologie. Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int 2010; 77: 350-58.
-
(2010)
Kidney Int
, vol.77
, pp. 350-358
-
-
Denamur, E.1
Delezoide, A.L.2
Alberti, C.3
-
35
-
-
34047239789
-
Transcriptional and functional analyses of SLC12A3 mutations: New clues for the pathogenesis of gitelman syndrome
-
for the Belgian Network for Study of Gitelman Syndrome
-
Riveira-Munoz E, Chang Q, Godefroid N, et al, for the Belgian Network for Study of Gitelman Syndrome. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol 2007; 18: 1271-83.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1271-1283
-
-
Riveira-Munoz, E.1
Chang, Q.2
Godefroid, N.3
-
36
-
-
34248181986
-
High NPHP1 and NPHP6 mutation rate in patients with joubert syndrome and nephronophthisis: Potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations
-
Tory K, Lacoste T, Burglen L, et al. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol 2007; 18: 1566-75.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1566-1575
-
-
Tory, K.1
Lacoste, T.2
Burglen, L.3
-
37
-
-
34948824296
-
Evidence of oligogenic inheritance in nephronophthisis
-
Hoefele J, Wolf MT, O'Toole JF, et al. Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol 2007; 18: 2789-95.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2789-2795
-
-
Hoefele, J.1
Wolf, M.T.2
O'Toole, J.F.3
-
38
-
-
84867994785
-
Pathogenesis of the C3 glomerulopathies and reclassification of MPGN
-
Bomback AS, Appel GB. Pathogenesis of the C3 glomerulopathies and reclassification of MPGN. Nat Rev Nephrol 2012; 8: 634-42.
-
(2012)
Nat Rev Nephrol
, vol.8
, pp. 634-642
-
-
Bomback, A.S.1
Appel, G.B.2
-
40
-
-
79958862650
-
Mouse models to study kidney development, function and disease
-
Ly JP, Onay T, Quaggin SE. Mouse models to study kidney development, function and disease. Curr Opin Nephrol Hypertens 2011; 20: 382-90.
-
(2011)
Curr Opin Nephrol Hypertens
, vol.20
, pp. 382-390
-
-
Ly, J.P.1
Onay, T.2
Quaggin, S.E.3
-
43
-
-
33745487869
-
Gene expression profiling analysis in nephrology: Towards molecular definition of renal disease
-
for the European Renal cDNA Bank (ERCB) Consortium
-
Yasuda Y, Cohen CD, Henger A, Kretzler M, for the European Renal cDNA Bank (ERCB) Consortium. Gene expression profiling analysis in nephrology: towards molecular definition of renal disease. Clin Exp Nephrol 2006; 10: 91-98.
-
(2006)
Clin Exp Nephrol
, vol.10
, pp. 91-98
-
-
Yasuda, Y.1
Cohen, C.D.2
Henger, A.3
Kretzler, M.4
-
44
-
-
84890263843
-
Amniotic fluid: The use of high-dimensional biology to understand fetal well-being
-
Kamath-Rayne BD, Smith HC, Muglia LJ, Morrow AL. Amniotic fluid: the use of high-dimensional biology to understand fetal well-being. Reprod Sci 2014; 21: 6-19.
-
(2014)
Reprod Sci
, vol.21
, pp. 6-19
-
-
Kamath-Rayne, B.D.1
Smith, H.C.2
Muglia, L.J.3
Morrow, A.L.4
-
45
-
-
59949104184
-
Characterization of PKD protein-positive exosome-like vesicles
-
Hogan MC, Manganelli L, Woollard JR, et al. Characterization of PKD protein-positive exosome-like vesicles. J Am Soc Nephrol 2009; 20: 278-88.
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 278-288
-
-
Hogan, M.C.1
Manganelli, L.2
Woollard, J.R.3
-
46
-
-
84878627393
-
Urinary exosomes: A reservoir for biomarker discovery and potential mediators of intrarenal signalling
-
Dear JW, Street JM, Bailey MA. Urinary exosomes: a reservoir for biomarker discovery and potential mediators of intrarenal signalling. Proteomics 2013; 13: 1572-80.
-
(2013)
Proteomics
, vol.13
, pp. 1572-1580
-
-
Dear, J.W.1
Street, J.M.2
Bailey, M.A.3
-
47
-
-
84881627474
-
Urinary exosomal wilms' tumor-1 as a potential biomarker for podocyte injury
-
Zhou H, Kajiyama H, Tsuji T, et al. Urinary exosomal Wilms' tumor-1 as a potential biomarker for podocyte injury. Am J Physiol Renal Physiol 2013; 305: F553-59.
-
(2013)
Am J Physiol Renal Physiol
, vol.305
-
-
Zhou, H.1
Kajiyama, H.2
Tsuji, T.3
-
48
-
-
78149479774
-
Multicentric validation of proteomic biomarkers in urine specific for diabetic nephropathy
-
for the PREDICTIONS Group
-
Alkhalaf A, Zürbig P, Bakker SJ, et al, for the PREDICTIONS Group. Multicentric validation of proteomic biomarkers in urine specific for diabetic nephropathy. PLoS One 2010; 5: e13421.
-
(2010)
PLoS One
, vol.5
-
-
Alkhalaf, A.1
Zürbig, P.2
Bakker, S.J.3
-
49
-
-
77950615625
-
Integrative urinary peptidomics in renal transplantation identifies biomarkers for acute rejection
-
Ling XB, Sigdel TK, Lau K, et al. Integrative urinary peptidomics in renal transplantation identifies biomarkers for acute rejection. J Am Soc Nephrol 2010; 21: 646-53.
-
(2010)
J Am Soc Nephrol
, vol.21
, pp. 646-653
-
-
Ling, X.B.1
Sigdel, T.K.2
Lau, K.3
-
50
-
-
84856521374
-
Urinary proteome analysis to exclude severe vesicoureteral reflux
-
Drube J, Schiffer E, Lau E, et al. Urinary proteome analysis to exclude severe vesicoureteral reflux. Pediatrics 2012; 129: e356-63.
-
(2012)
Pediatrics
, vol.129
-
-
Drube, J.1
Schiffer, E.2
Lau, E.3
-
51
-
-
67349211490
-
Comprehensive analysis of microRNA expression patterns in renal biopsies of lupus nephritis patients
-
Dai Y, Sui W, Lan H, Yan Q, Huang H, Huang Y. Comprehensive analysis of microRNA expression patterns in renal biopsies of lupus nephritis patients. Rheumatol Int 2009; 29: 749-54.
-
(2009)
Rheumatol Int
, vol.29
, pp. 749-754
-
-
Dai, Y.1
Sui, W.2
Lan, H.3
Yan, Q.4
Huang, H.5
Huang, Y.6
-
52
-
-
84885634583
-
MicroRNA-29c in urinary exosome/microvesicle as a biomarker of renal fibrosis
-
Lv LL, Cao YH, Ni HF, et al. MicroRNA-29c in urinary exosome/microvesicle as a biomarker of renal fibrosis. Am J Physiol Renal Physiol 2013; 305: F1220-27.
-
(2013)
Am J Physiol Renal Physiol
, vol.305
-
-
Lv, L.L.1
Cao, Y.H.2
Ni, H.F.3
-
54
-
-
34548417712
-
Combined proteomic and metabonomic studies in three genetic forms of the renal fanconi syndrome
-
Vilasi A, Cutillas PR, Maher AD, et al. Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome. Am J Physiol Renal Physiol 2007; 293: F456-67.
-
(2007)
Am J Physiol Renal Physiol
, vol.293
-
-
Vilasi, A.1
Cutillas, P.R.2
Maher, A.D.3
-
55
-
-
84860570409
-
Next-generation sequencing: Ready for the clinics?
-
Desai AN, Jere A. Next-generation sequencing: ready for the clinics? Clin Genet 2012; 81: 503-10.
-
(2012)
Clin Genet
, vol.81
, pp. 503-510
-
-
Desai, A.N.1
Jere, A.2
-
56
-
-
84884826911
-
The next-generation sequencing revolution and its impact on genomics
-
Koboldt DC, Steinberg KM, Larson DE, Wilson RK, Mardis ER. The next-generation sequencing revolution and its impact on genomics. Cell 2013; 155: 27-38.
-
(2013)
Cell
, vol.155
, pp. 27-38
-
-
Koboldt, D.C.1
Steinberg, K.M.2
Larson, D.E.3
Wilson, R.K.4
Mardis, E.R.5
-
57
-
-
83255185118
-
Advances in alport syndrome diagnosis using next-generation sequencing
-
Artuso R, Fallerini C, Dosa L, et al. Advances in Alport syndrome diagnosis using next-generation sequencing. Eur J Hum Genet 2012; 20: 50-57.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 50-57
-
-
Artuso, R.1
Fallerini, C.2
Dosa, L.3
-
58
-
-
84876040962
-
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome
-
for the RADAR the UK SRNS Study Group
-
McCarthy HJ, Bierzynska A, Wherlock M, et al, for the RADAR the UK SRNS Study Group. Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2013; 8: 637-48.
-
(2013)
Clin J Am Soc Nephrol
, vol.8
, pp. 637-648
-
-
McCarthy, H.J.1
Bierzynska, A.2
Wherlock, M.3
-
59
-
-
79551634466
-
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
-
for the GPN Study Group
-
Otto EA, Ramaswami G, Janssen S, et al, for the GPN Study Group. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2011; 48: 105-16.
-
(2011)
J Med Genet
, vol.48
, pp. 105-116
-
-
Otto, E.A.1
Ramaswami, G.2
Janssen, S.3
-
60
-
-
84882455458
-
Single-cell sequencing-based technologies will revolutionize whole-organism science
-
Shapiro E, Biezuner T, Linnarsson S. Single-cell sequencing-based technologies will revolutionize whole-organism science. Nat Rev Genet 2013; 14: 618-30.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 618-630
-
-
Shapiro, E.1
Biezuner, T.2
Linnarsson, S.3
-
61
-
-
84874373133
-
Big biology: The 'omes puzzle
-
Baker M. Big biology: the 'omes puzzle. Nature 2013; 494: 416-19.
-
(2013)
Nature
, vol.494
, pp. 416-419
-
-
Baker, M.1
-
62
-
-
84891749517
-
The human phenotype ontology project: Linking molecular biology and disease through phenotype data
-
Köhler S, Doelken SC, Mungall CJ, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res 2014; 42: D966-74.
-
(2014)
Nucleic Acids Res
, vol.42
-
-
Köhler, S.1
Doelken, S.C.2
Mungall, C.J.3
-
63
-
-
75149133768
-
Single photon emission-computed tomography (SPECT) for functional investigation of the proximal tubule in conscious mice
-
Jouret F, Walrand S, Parreira KS, et al. Single photon emission-computed tomography (SPECT) for functional investigation of the proximal tubule in conscious mice. Am J Physiol Renal Physiol 2010; 298: F454-60.
-
(2010)
Am J Physiol Renal Physiol
, vol.298
-
-
Jouret, F.1
Walrand, S.2
Parreira, K.S.3
-
66
-
-
84863097837
-
Retake the center stage-new development of rat genetics
-
Zheng S, Geghman K, Shenoy S, Li C. Retake the center stage-new development of rat genetics. J Genet Genomics 2012; 39: 261-68.
-
(2012)
J Genet Genomics
, vol.39
, pp. 261-268
-
-
Zheng, S.1
Geghman, K.2
Shenoy, S.3
Li, C.4
-
67
-
-
84879686686
-
Whole-rat conditional gene knockout via genome editing
-
Brown AJ, Fisher DA, Kouranova E, et al. Whole-rat conditional gene knockout via genome editing. Nat Methods 2013; 10: 638-40.
-
(2013)
Nat Methods
, vol.10
, pp. 638-640
-
-
Brown, A.J.1
Fisher, D.A.2
Kouranova, E.3
-
68
-
-
20544470693
-
Kidney development and disease in the zebrafish
-
Drummond IA. Kidney development and disease in the zebrafish. J Am Soc Nephrol 2005; 16: 299-304.
-
(2005)
J Am Soc Nephrol
, vol.16
, pp. 299-304
-
-
Drummond, I.A.1
-
69
-
-
77954664479
-
Studying cilia in zebrafish
-
Drummond I. Studying cilia in zebrafish. Methods Cell Biol 2009; 93: 197-217.
-
(2009)
Methods Cell Biol
, vol.93
, pp. 197-217
-
-
Drummond, I.1
-
70
-
-
84861799316
-
Inducible podocyte injury and proteinuria in transgenic zebrafish
-
Zhou W, Hildebrandt F. Inducible podocyte injury and proteinuria in transgenic zebrafish. J Am Soc Nephrol 2012; 23: 1039-47.
-
(2012)
J Am Soc Nephrol
, vol.23
, pp. 1039-1047
-
-
Zhou, W.1
Hildebrandt, F.2
-
71
-
-
84877811390
-
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
-
Mahmood F, Mozere M, Zdebik AA, et al. Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Dis Model Mech 2013; 6: 652-60.
-
(2013)
Dis Model Mech
, vol.6
, pp. 652-660
-
-
Mahmood, F.1
Mozere, M.2
Zdebik, A.A.3
-
72
-
-
58249123367
-
The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm
-
Weavers H, Prieto-Sánchez S, Grawe F, et al. The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm. Nature 2009; 457: 322-26.
-
(2009)
Nature
, vol.457
, pp. 322-326
-
-
Weavers, H.1
Prieto-Sánchez, S.2
Grawe, F.3
-
73
-
-
84873366506
-
Cubilin and amnionless mediate protein reabsorption in drosophila nephrocytes
-
Zhang F, Zhao Y, Chao Y, Muir K, Han Z. Cubilin and amnionless mediate protein reabsorption in Drosophila nephrocytes. J Am Soc Nephrol 2013; 24: 209-16.
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 209-216
-
-
Zhang, F.1
Zhao, Y.2
Chao, Y.3
Muir, K.4
Han, Z.5
-
74
-
-
79958792135
-
Caenorhabditis elegans, a model organism for kidney research: From cilia to mechanosensation and longevity
-
Müller RU, Zank S, Fabretti F, Benzing T. Caenorhabditis elegans, a model organism for kidney research: from cilia to mechanosensation and longevity. Curr Opin Nephrol Hypertens 2011; 20: 400-08.
-
(2011)
Curr Opin Nephrol Hypertens
, vol.20
, pp. 400-408
-
-
Müller, R.U.1
Zank, S.2
Fabretti, F.3
Benzing, T.4
-
75
-
-
84867786932
-
Vasopressin/oxytocin-related signaling regulates gustatory associative learning in C. Elegans
-
Beets I, Janssen T, Meelkop E, et al. Vasopressin/oxytocin-related signaling regulates gustatory associative learning in C. elegans. Science 2012; 338: 543-45.
-
(2012)
Science
, vol.338
, pp. 543-545
-
-
Beets, I.1
Janssen, T.2
Meelkop, E.3
-
77
-
-
84877105938
-
Adolescent views on transition in diabetes and nephrology
-
Tong A, Wong G, Hodson E, Walker RG, Tjaden L, Craig JC. Adolescent views on transition in diabetes and nephrology. Eur J Pediatr 2013; 172: 293-304.
-
(2013)
Eur J Pediatr
, vol.172
, pp. 293-304
-
-
Tong, A.1
Wong, G.2
Hodson, E.3
Walker, R.G.4
Tjaden, L.5
Craig, J.C.6
-
78
-
-
80052264182
-
The rediscovery of uromodulin (Tamm-horsfall protein): From tubulointerstitial nephropathy to chronic kidney disease
-
Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int 2011; 80: 338-47.
-
(2011)
Kidney Int
, vol.80
, pp. 338-347
-
-
Rampoldi, L.1
Scolari, F.2
Amoroso, A.3
Ghiggeri, G.4
Devuyst, O.5
-
79
-
-
84889887136
-
Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression
-
for the Swiss Kidney Project on Genes in Hypertension (SKIPOGH) team
-
Trudu M, Janas S, Lanzani C, et al, for the Swiss Kidney Project on Genes in Hypertension (SKIPOGH) team. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. Nat Med 2013; 19: 1655-60.
-
(2013)
Nat Med
, vol.19
, pp. 1655-1660
-
-
Trudu, M.1
Janas, S.2
Lanzani, C.3
-
80
-
-
79952350496
-
CUBN is a gene locus for albuminuria
-
for the CKDGen Consortium
-
Böger CA, Chen MH, Tin A, et al, for the CKDGen Consortium. CUBN is a gene locus for albuminuria. J Am Soc Nephrol 2011; 22: 555-70.
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 555-570
-
-
Böger, C.A.1
Chen, M.H.2
Tin, A.3
-
81
-
-
84870691564
-
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function
-
for the CARDIoGRAM Consortium and the ICBP Consortium and the CARe Consortium and the WTCCC2
-
Chasman DI, Fuchsberger C, Pattaro C, et al, for the CARDIoGRAM Consortium and the ICBP Consortium and the CARe Consortium and the WTCCC2. Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet 2012; 21: 5329-43.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 5329-5343
-
-
Chasman, D.I.1
Fuchsberger, C.2
Pattaro, C.3
-
83
-
-
70350279315
-
Atypical hemolytic-uremic syndrome
-
Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med 2009; 361: 1676-87.
-
(2009)
N Engl J Med
, vol.361
, pp. 1676-1687
-
-
Noris, M.1
Remuzzi, G.2
-
84
-
-
84874661164
-
Genetic testing in nephrotic syndrome-challenges and opportunities
-
Gbadegesin RA, Winn MP, Smoyer WE. Genetic testing in nephrotic syndrome-challenges and opportunities. Nat Rev Nephrol 2013; 9: 179-84.
-
(2013)
Nat Rev Nephrol
, vol.9
, pp. 179-184
-
-
Gbadegesin, R.A.1
Winn, M.P.2
Smoyer, W.E.3
-
85
-
-
84881416930
-
Primary hyperoxaluria
-
Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med 2013; 369: 649-58.
-
(2013)
N Engl J Med
, vol.369
, pp. 649-658
-
-
Cochat, P.1
Rumsby, G.2
-
86
-
-
84870947500
-
Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy
-
Jézégou A, Llinares E, Anne C, et al. Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. Proc Natl Acad Sci USA 2012; 109: E3434-43.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
-
-
Jézégou, A.1
Llinares, E.2
Anne, C.3
-
87
-
-
84867997580
-
STEC-HUS, atypical HUS and TTP are all diseases of complement activation
-
Noris M, Mescia F, Remuzzi G. STEC-HUS, atypical HUS and TTP are all diseases of complement activation. Nat Rev Nephrol 2012; 8: 622-33.
-
(2012)
Nat Rev Nephrol
, vol.8
, pp. 622-633
-
-
Noris, M.1
Mescia, F.2
Remuzzi, G.3
-
88
-
-
67749095283
-
Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists
-
Robben JH, Kortenoeven ML, Sze M, et al. Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists. Proc Natl Acad Sci USA 2009; 106: 12195-200.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 12195-12200
-
-
Robben, J.H.1
Kortenoeven, M.L.2
Sze, M.3
-
89
-
-
84855161044
-
Cysteamine therapy elays the progression of nephropathic cystinosis in late adolescents and adults
-
Brodin-Sartorius A, Tête MJ, Niaudet P, et al. Cysteamine therapy elays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int 2012; 81: 179-89.
-
(2012)
Kidney Int
, vol.81
, pp. 179-189
-
-
Brodin-Sartorius, A.1
Tête, M.J.2
Niaudet, P.3
-
90
-
-
84873098134
-
Recent progress in the pathophysiology and treatment of FSGS recurrence
-
Cravedi P, Kopp JB, Remuzzi G. Recent progress in the pathophysiology and treatment of FSGS recurrence. Am J Transplant 2013; 13: 266-74.
-
(2013)
Am J Transplant
, vol.13
, pp. 266-274
-
-
Cravedi, P.1
Kopp, J.B.2
Remuzzi, G.3
-
91
-
-
84890409760
-
Abatacept in B7-1-positive proteinuric kidney disease
-
Yu CC, Fornoni A, Weins A, et al. Abatacept in B7-1-positive proteinuric kidney disease. N Engl J Med 2013; 369: 2416-23.
-
(2013)
N Engl J Med
, vol.369
, pp. 2416-2423
-
-
Yu, C.C.1
Fornoni, A.2
Weins, A.3
-
92
-
-
84867993256
-
Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies
-
for the French Study Group for aHUS/C3G
-
Zuber J, Fakhouri F, Roumenina LT, Loirat C, Frémeaux-Bacchi V, for the French Study Group for aHUS/C3G. Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. Nat Rev Nephrol 2012; 8: 643-57.
-
(2012)
Nat Rev Nephrol
, vol.8
, pp. 643-657
-
-
Zuber, J.1
Fakhouri, F.2
Roumenina, L.T.3
Loirat, C.4
Frémeaux-Bacchi, V.5
-
93
-
-
84878608990
-
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
-
Lemaire M, Frémeaux-Bacchi V, Schaefer F, et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 2013; 45: 531-36.
-
(2013)
Nat Genet
, vol.45
, pp. 531-536
-
-
Lemaire, M.1
Frémeaux-Bacchi, V.2
Schaefer, F.3
-
94
-
-
84862908957
-
V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists
-
Takahashi K, Makita N, Manaka K, et al. V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists. J Biol Chem 2012; 287: 2099-106.
-
(2012)
J Biol Chem
, vol.287
, pp. 2099-2106
-
-
Takahashi, K.1
Makita, N.2
Manaka, K.3
-
95
-
-
33645416161
-
Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus
-
Bernier V, Morello JP, Zarruk A, et al. Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 2006; 17: 232-43.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 232-243
-
-
Bernier, V.1
Morello, J.P.2
Zarruk, A.3
-
96
-
-
84901240004
-
Providing guidance in the dark: Rare renal diseases and the challenge to improve the quality of evidence
-
published online Sept 11. DOI:10.1093/ndt/gft344
-
Bolignano D, Nagler EV, Van Biesen W, Zoccali C. Providing guidance in the dark: rare renal diseases and the challenge to improve the quality of evidence. Nephrol Dial Transplant 2013; published online Sept 11. DOI:10.1093/ndt/gft344.
-
(2013)
Nephrol Dial Transplant
-
-
Bolignano, D.1
Nagler, E.V.2
Van Biesen, W.3
Zoccali, C.4
-
97
-
-
84863839701
-
The need for worldwide policy and action plans for rare diseases
-
for the International Conference for Rare Diseases and Orphan Drugs (ICORD)
-
Forman J, Taruscio D, Llera VA, et al, for the International Conference for Rare Diseases and Orphan Drugs (ICORD). The need for worldwide policy and action plans for rare diseases. Acta Paediatr 2012; 101: 805-07.
-
(2012)
Acta Paediatr
, vol.101
, pp. 805-807
-
-
Forman, J.1
Taruscio, D.2
Llera, V.A.3
-
98
-
-
79961102329
-
Mutations in CYP24A1 and idiopathic infantile hypercalcemia
-
Schlingmann KP, Kaufmann M, Weber S, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 2011; 365: 410-21.
-
(2011)
N Engl J Med
, vol.365
, pp. 410-421
-
-
Schlingmann, K.P.1
Kaufmann, M.2
Weber, S.3
-
99
-
-
44849116195
-
Empowerment of patients: Lessons from the rare diseases community
-
Aymé S, Kole A, Groft S. Empowerment of patients: lessons from the rare diseases community. Lancet 2008; 371: 2048-51.
-
(2008)
Lancet
, vol.371
, pp. 2048-2051
-
-
Aymé, S.1
Kole, A.2
Groft, S.3
-
100
-
-
79955487315
-
Patient organizations and research on rare diseases
-
Ingelfinger JR, Drazen JM. Patient organizations and research on rare diseases. N Engl J Med 2011; 364: 1670-71.
-
(2011)
N Engl J Med
, vol.364
, pp. 1670-1671
-
-
Ingelfinger, J.R.1
Drazen, J.M.2
|