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1993 1
1998 1
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Page 1
Glomerulocystic kidney disease--nosological considerations.
Bernstein J. Bernstein J. Pediatr Nephrol. 1993 Aug;7(4):464-70. doi: 10.1007/BF00857576. Pediatr Nephrol. 1993. PMID: 8398663 Review.
The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital syndrome, brachymesomelia-renal syndrome, trisomy 13, and the short rib-polydactyly syndromes. The category also includes glomerular …
The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital …
Renal cystic diseases: a review.
Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A. Bisceglia M, et al. Adv Anat Pathol. 2006 Jan;13(1):26-56. doi: 10.1097/01.pap.0000201831.77472.d3. Adv Anat Pathol. 2006. PMID: 16462154 Review.
The conditions included are autosomal-dominant polycystic kidney disease, autosomal-recessive polycystic kidney disease, unilateral renal cystic disease (localized cystic disease), renal simple cysts, multicystic dysplastic kidney, pluricystic kidney of the multiple malformation …
The conditions included are autosomal-dominant polycystic kidney disease, autosomal-recessive polycystic kidney disease, unilateral renal cy …
GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.
Jetten AM. Jetten AM. Cell Mol Life Sci. 2018 Oct;75(19):3473-3494. doi: 10.1007/s00018-018-2841-9. Epub 2018 May 19. Cell Mol Life Sci. 2018. PMID: 29779043 Free PMC article. Review.
GLIS2 plays a critical role in the kidney and GLIS2 dysfunction leads to nephronophthisis, an end-stage, cystic renal disease. In addition, GLIS1-3 have regulatory functions in several stem/progenitor cell populations. ...
GLIS2 plays a critical role in the kidney and GLIS2 dysfunction leads to nephronophthisis, an end-stage, cystic renal disease. In add …
Uncoordinated (UNC)119: coordinating the trafficking of myristoylated proteins.
Constantine R, Zhang H, Gerstner CD, Frederick JM, Baehr W. Constantine R, et al. Vision Res. 2012 Dec 15;75:26-32. doi: 10.1016/j.visres.2012.08.012. Epub 2012 Sep 19. Vision Res. 2012. PMID: 23000199 Free PMC article. Review.
Similar complexes are formed in other sensory neurons, as the G proteins ODR-3 and GPA-13 in Caenorhabditis elegans unc-119 mutants traffic inappropriately. UNC119B knockdown in IMCD3 cells prevents trafficking ofmyristoylated nephrocystin-3 (NPHP3), a protein associated w …
Similar complexes are formed in other sensory neurons, as the G proteins ODR-3 and GPA-13 in Caenorhabditis elegans unc-119 mutants t …
Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.
Delvallée C, Dollfus H. Delvallée C, et al. Cold Spring Harb Perspect Med. 2023 Jan 3;13(1):a041303. doi: 10.1101/cshperspect.a041303. Cold Spring Harb Perspect Med. 2023. PMID: 36596648 Free PMC article. Review.
Many BBS proteins (but not the chaperonins for instance) can be modeled in primitive organisms such as Paramecium, Chlamydomonas reinardtii, Trypanosoma brucei, and Caenorhabditis elegans These models have enabled clarifying the role of a subset of BBS proteins in the primary cil …
Many BBS proteins (but not the chaperonins for instance) can be modeled in primitive organisms such as Paramecium, Chlamydomonas reinardtii, …
Gli-similar proteins: their mechanisms of action, physiological functions, and roles in disease.
Lichti-Kaiser K, ZeRuth G, Kang HS, Vasanth S, Jetten AM. Lichti-Kaiser K, et al. Vitam Horm. 2012;88:141-71. doi: 10.1016/B978-0-12-394622-5.00007-9. Vitam Horm. 2012. PMID: 22391303 Free PMC article. Review.
In humans, a mutation in the Glis2 gene has been linked to the development of nephronophthisis (NPHP), a recessive cystic kidney disease, while mutations in Glis3 lead to an extended multisystem phenotype that includes the development of neonatal diabetes, polycystic kidne …
In humans, a mutation in the Glis2 gene has been linked to the development of nephronophthisis (NPHP), a recessive cystic kidney dise …
The cilium: a cellular antenna with an influence on obesity risk.
Mariman EC, Vink RG, Roumans NJ, Bouwman FG, Stumpel CT, Aller EE, van Baak MA, Wang P. Mariman EC, et al. Br J Nutr. 2016 Aug;116(4):576-92. doi: 10.1017/S0007114516002282. Epub 2016 Jun 20. Br J Nutr. 2016. PMID: 27323230 Review.
Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review.
Zhen Z, Dong Z, Gao L, Wang Q, Chen X, Na J, Yuan Y. Zhen Z, et al. BMC Pediatr. 2024 Oct 4;24(1):632. doi: 10.1186/s12887-024-05124-z. BMC Pediatr. 2024. PMID: 39363162 Free PMC article. Review.
BACKGROUND X-PROLYL AMINOPEPTIDASE 3: (XPNPEP3) mutations are known to cause nephronophthisis-like nephropathy-1 (NPHPL1), a rare autosomal-recessive kidney disease characterized by progressive kidney failure and cystic kidney disease in childhood. The full phenotypic spec …
BACKGROUND X-PROLYL AMINOPEPTIDASE 3: (XPNPEP3) mutations are known to cause nephronophthisis-like nephropathy-1 (NPHPL1), a rare aut …
Gli-similar (Glis) Krüppel-like zinc finger proteins: insights into their physiological functions and critical roles in neonatal diabetes and cystic renal disease.
Kang HS, ZeRuth G, Lichti-Kaiser K, Vasanth S, Yin Z, Kim YS, Jetten AM. Kang HS, et al. Histol Histopathol. 2010 Nov;25(11):1481-96. doi: 10.14670/HH-25.1481. Histol Histopathol. 2010. PMID: 20865670 Free PMC article. Review.
Mutations in GLIS2 have been linked to nephronophthisis, an autosomal recessive cystic kidney disease. Loss of Glis2 function leads to renal atrophy and fibrosis that involves epithelial-mesenchymal transition (EMT) of renal tubule epithelial cells. ...
Mutations in GLIS2 have been linked to nephronophthisis, an autosomal recessive cystic kidney disease. Loss of Glis2 function leads t …
Identification of a gene for nephronophthisis.
Hildebrandt F. Hildebrandt F. Nephrol Dial Transplant. 1998 Jun;13(6):1334-6. doi: 10.1093/ndt/13.6.1334. Nephrol Dial Transplant. 1998. PMID: 9641151 Review. No abstract available.
11 results