-
1
-
-
17744387572
-
Glomerular endothelial cell differentiation
-
Ballermann BJ: Glomerular endothelial cell differentiation. Kidney Int 2005; 67: 1668-1671.
-
(2005)
Kidney Int
, vol.67
, pp. 1668-1671
-
-
Ballermann, B.J.1
-
3
-
-
42149106794
-
The spectrum of focal segmental glomerulosclerosis: New insights
-
D'Agati VD: The spectrum of focal segmental glomerulosclerosis: new insights. Curr Opin Nephrol Hypertens 2008; 17: 271-281.
-
(2008)
Curr Opin Nephrol Hypertens
, vol.17
, pp. 271-281
-
-
D'Agati, V.D.1
-
4
-
-
34247869624
-
Genetics of focal segmental glomerulosclerosis
-
Woroniecki RP, Kopp JB: Genetics of focal segmental glomerulosclerosis. Pediatr Nephrol 2007; 22: 638-644.
-
(2007)
Pediatr Nephrol
, vol.22
, pp. 638-644
-
-
Woroniecki, R.P.1
Kopp, J.B.2
-
5
-
-
79960853642
-
Pathogenesis and therapy of focal segmental glomerulosclerosis: An update
-
Gbadegesin R, Lavin P, Foreman J, Winn M: Pathogenesis and therapy of focal segmental glomerulosclerosis: an update. Pediatr Nephrol 2011; 26: 1001-1015.
-
(2011)
Pediatr Nephrol
, vol.26
, pp. 1001-1015
-
-
Gbadegesin, R.1
Lavin, P.2
Foreman, J.3
Winn, M.4
-
6
-
-
70349621624
-
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis-A review
-
Löwik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP: Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis-A review. Eur J Pediatr 2009; 168: 1291-1304.
-
(2009)
Eur J Pediatr
, vol.168
, pp. 1291-1304
-
-
Löwik, M.M.1
Groenen, P.J.2
Levtchenko, E.N.3
Monnens, L.A.4
Van Den Heuvel, L.P.5
-
7
-
-
73349132341
-
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
-
Brown EJ, Schlöndorff JS, Becker DJ, et al: Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 2010; 42: 72-76.
-
(2010)
Nat Genet
, vol.42
, pp. 72-76
-
-
Brown, E.J.1
Schlöndorff, J.S.2
Becker, D.J.3
-
8
-
-
79960877647
-
MYO1E mutations and childhood familial focal segmental glomerulosclerosis
-
Mele C, Iatropoulos P, Donadelli R, et al: MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med 2011; 365: 295-306.
-
(2011)
N Engl J Med
, vol.365
, pp. 295-306
-
-
Mele, C.1
Iatropoulos, P.2
Donadelli, R.3
-
9
-
-
84882932882
-
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene
-
Esposito T, Lea RA, Maher BH, et al: Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. Hum Mol Genet 2013; 22: 3654-3666.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 3654-3666
-
-
Esposito, T.1
Lea, R.A.2
Maher, B.H.3
-
10
-
-
77956259962
-
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)
-
Schoeb DS, Chernin G, Heeringa SF, et al: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 2010; 25: 2970-2976.
-
(2010)
Nephrol Dial Transplant
, vol.25
, pp. 2970-2976
-
-
Schoeb, D.S.1
Chernin, G.2
Heeringa, S.F.3
-
11
-
-
79960747675
-
PiR-015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene
-
Esposito T, Magliocca S, Formicola D, Gianfrancesco F: piR-015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene. PLoS One 2011; 6:e22727.
-
(2011)
PLoS One
, vol.6
, pp. e22727
-
-
Esposito, T.1
Magliocca, S.2
Formicola, D.3
Gianfrancesco, F.4
-
12
-
-
84856628222
-
The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis
-
Esposito T, Rendina D, Aloia A, et al: The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis. Nephrol Dial Transplant 2012; 27: 210-218.
-
(2012)
Nephrol Dial Transplant
, vol.27
, pp. 210-218
-
-
Esposito, T.1
Rendina, D.2
Aloia, A.3
-
13
-
-
0036189998
-
A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression
-
Saleem MA, O'Hare MJ, Reiser J, et al: A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression. J Am Soc Nephrol 2002; 13: 630-638.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 630-638
-
-
Saleem, M.A.1
O'Hare, M.J.2
Reiser, J.3
-
14
-
-
0036238921
-
N-linked glycosylation is critical for the plasma membrane localization of nephrin
-
Yan K, Khoshnoodi J, Ruotsalainen V, Tryggvason K: N-linked glycosylation is critical for the plasma membrane localization of nephrin. J Am Soc Nephrol 2002; 13: 1385-1389.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 1385-1389
-
-
Yan, K.1
Khoshnoodi, J.2
Ruotsalainen, V.3
Tryggvason, K.4
-
15
-
-
84880586512
-
N-linked protein glycosylation in the ER
-
Aebi M: N-linked protein glycosylation in the ER. Biochim Biophys Acta 2013; 1833: 2430-2437.
-
(2013)
Biochim Biophys Acta
, vol.1833
, pp. 2430-2437
-
-
Aebi, M.1
-
16
-
-
84866425378
-
Gene identification in the congenital disorders of glycosylation type i by whole-exome sequencing
-
Timal S, Hoischen A, Lehle L, et al: Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 2012; 21: 4151-4161.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4151-4161
-
-
Timal, S.1
Hoischen, A.2
Lehle, L.3
-
17
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
EpiK Consortium; Epilepsy Phenome/ Genome Project, Allen AS, et a.l.
-
Epi4K Consortium; Epilepsy Phenome/ Genome Project, Allen AS, et al: De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
-
18
-
-
84890686582
-
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings
-
Bissar-Tadmouri N, Donahue WL, Al-Gazali L, et al: X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. Am J Med Genet A 2014; 164A:164-169.
-
(2014)
Am J Med Genet A
, vol.164
, pp. 164-169
-
-
Bissar-Tadmouri, N.1
Donahue, W.L.2
Al-Gazali, L.3
-
19
-
-
0346850851
-
Nlinked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity
-
Dietrich A, Mederos y Schnitzler M, et al: Nlinked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity. J Biol Chem 2003; 278: 47842-47852.
-
(2003)
J Biol Chem
, vol.278
, pp. 47842-47852
-
-
Dietrich, A.1
Mederos Schnitzler, Y.M.2
-
20
-
-
84877037040
-
Characterization of a short isoform of the kidney protein podocin in human kidney
-
Völker LA, Schurek EM, Rinschen MM, et al: Characterization of a short isoform of the kidney protein podocin in human kidney. BMC Nephrol 2013; 14: 102.
-
(2013)
BMC Nephrol
, vol.14
, pp. 102
-
-
Völker, L.A.1
Schurek, E.M.2
Rinschen, M.M.3
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