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Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?
- Published in:
- Pediatric & Developmental Pathology, 1998, v. 1, n. 6, p. 543, doi. 10.1007/s100249900075
- By:
- Publication type:
- Article
A slit-diaphragm-associated protein network for dynamic control of renal filtration.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33748-1
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- Publication type:
- Article
Cystinosin, the protein defective in cystinosis, is a H<sup>+</sup>-driven lysosomal cystine transporter.
- Published in:
- EMBO Journal, 2001, v. 20, n. 21, p. 5940, doi. 10.1093/emboj/20.21.5940
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- Publication type:
- Article
Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis.
- Published in:
- 2011
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- Publication type:
- journal article
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 239, doi. 10.1093/ndt/gfab218
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- Publication type:
- Article
APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, n. 11, p. 1885, doi. 10.1093/ndt/gfy176
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- Publication type:
- Article
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2470, doi. 10.1002/ajmg.a.40357
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- Publication type:
- Article
What is the risk that I will transmit nephrotic syndrome to my children, Doctor?
- Published in:
- 2010
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- Publication type:
- Case Study
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
- Published in:
- 2015
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- Publication type:
- journal article
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
- Published in:
- Kidney International, 2014, v. 86, n. 3, p. 589, doi. 10.1038/ki.2014.72
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- Publication type:
- Article
Increased lysosomal proteolysis counteracts protein accumulation in the proximal tubule during focal segmental glomerulosclerosis.
- Published in:
- Kidney International, 2013, v. 84, n. 5, p. 902, doi. 10.1038/ki.2013.218
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- Publication type:
- Article
Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults.
- Published in:
- Kidney International, 2012, v. 81, n. 2, p. 179, doi. 10.1038/ki.2011.277
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- Publication type:
- Article
Renin–angiotensin system in kidney development: renal tubular dysgenesis.
- Published in:
- Kidney International, 2010, v. 77, n. 5, p. 400, doi. 10.1038/ki.2009.423
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- Publication type:
- Article
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 3, p. 299, doi. 10.1038/ng.2898
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- Publication type:
- Article
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 299, doi. 10.1038/ng.2543
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- Publication type:
- Article
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
- Published in:
- 2005
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- Publication type:
- Letter
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 455, doi. 10.1038/ng1216
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- Publication type:
- Article
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 300, doi. 10.1038/ng996
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- Publication type:
- Article
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 310
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- Publication type:
- Article
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
- Published in:
- Nature Genetics, 2000, v. 24, n. 4, p. 349, doi. 10.1038/74166
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- Publication type:
- Article
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
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- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 83, doi. 10.1111/j.1749-6632.2010.05817.x
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- Publication type:
- Article
Nephrocystin-1 Forms a Complex with Polycystin-1 via a Polyproline Motif/SH3 Domain Interaction and Regulates the Apoptotic Response in Mammals.
- Published in:
- PLoS ONE, 2010, v. 5, n. 9, p. 1, doi. 10.1371/journal.pone.0012719
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- Publication type:
- Article
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.
- Published in:
- Proteins, 2005, v. 59, n. 2, p. 347, doi. 10.1002/prot.20344
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- Publication type:
- Article
Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.
- Published in:
- Journal of Molecular Medicine, 2009, v. 87, n. 9, p. 849, doi. 10.1007/s00109-009-0505-9
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- Publication type:
- Article
Atypical severe early-onset nephrotic syndrome: Answers.
- Published in:
- 2022
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- Publication type:
- Question & Answer
Atypical severe early-onset nephrotic syndrome: Questions.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Clinical utility gene card for: Cystinosis.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.204
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- Publication type:
- Article
Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1019, doi. 10.1038/ejhg.2009.13
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- Publication type:
- Article
PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 820, doi. 10.1038/sj.ejhg.5200539
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- Publication type:
- Article
Non-invasive intradermal imaging of cystine crystals in cystinosis.
- Published in:
- PLoS ONE, 2021, v. 16, n. 3, p. 1, doi. 10.1371/journal.pone.0247846
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- Publication type:
- Article
Delayed renal failure with extensive mesangiolysis following bone marrow transplantation.
- Published in:
- Kidney International, 1989, v. 35, n. 6, p. 1336, doi. 10.1038/ki.1989.132
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- Publication type:
- Article
Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns.
- Published in:
- BMC Genomics, 2000, v. 1, p. 1
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- Publication type:
- Article
Cystinosin is a melanosomal protein that regulates melanin synthesis.
- Published in:
- FASEB Journal, 2012, v. 26, n. 9, p. 3779, doi. 10.1096/fj.11-201376
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- Publication type:
- Article
Lysosomal Targeting of Cystinosin Requires AP-3.
- Published in:
- Traffic, 2015, v. 16, n. 7, p. 712, doi. 10.1111/tra.12277
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- Publication type:
- Article
Case Report Plasma Membrane Targeting of Podocin Through the Classical Exocytic Pathway: Effect of NPHS2 Mutations.
- Published in:
- 2004
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- Publication type:
- Book Review
Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2.
- Published in:
- Nature Communications, 2016, v. 7, n. 1, p. 10330, doi. 10.1038/ncomms10330
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- Publication type:
- Article
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 693, doi. 10.1111/cge.14305
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- Publication type:
- Article
Central nervous system complications in adult cystinosis patients.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 348, doi. 10.1002/jimd.12164
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- Publication type:
- Article
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 6, p. 1125, doi. 10.1007/s00467-020-04524-4
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- Publication type:
- Article
Nephrotic syndrome and mitochondrial disorders: Questions.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 8, p. 1373, doi. 10.1007/s00467-019-04216-8
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- Publication type:
- Article
Nephrotic syndrome and mitochondrial disorders: answers.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 8, p. 1375, doi. 10.1007/s00467-019-04217-7
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- Publication type:
- Article
Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Questions.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 2, p. 277, doi. 10.1007/s00467-015-3266-4
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- Publication type:
- Article
Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Answers.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 2, p. 279, doi. 10.1007/s00467-015-3268-2
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- Publication type:
- Article
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 5, p. 751, doi. 10.1007/s00467-012-2379-2
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- Publication type:
- Article
Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 2, p. 241, doi. 10.1007/s00467-010-1694-8
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- Publication type:
- Article
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.
- Published in:
- Pediatric Nephrology, 2010, v. 25, n. 9, p. 1621, doi. 10.1007/s00467-010-1495-0
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- Publication type:
- Article
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2010, v. 25, n. 3, p. 445, doi. 10.1007/s00467-009-1372-x
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- Publication type:
- Article
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 12, p. 2361, doi. 10.1007/s00467-009-1287-6
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- Publication type:
- Article
A novel Wilms’ tumor 1 gene mutation in a child with severe renal dysfunction and persistent renal blastema.
- Published in:
- Pediatric Nephrology, 2008, v. 23, n. 9, p. 1445, doi. 10.1007/s00467-008-0845-7
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- Publication type:
- Article
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2005, v. 20, n. 4, p. 465, doi. 10.1007/s00467-004-1725-4
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- Publication type:
- Article