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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins r …
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, …
Autoimmune neuromyotonia.
Comperat L, Pegat A, Honnorat J, Joubert B. Comperat L, et al. Curr Opin Neurol. 2022 Oct 1;35(5):597-603. doi: 10.1097/WCO.0000000000001104. Epub 2022 Aug 19. Curr Opin Neurol. 2022. PMID: 35989569 Review.
SUMMARY: Neuromyotonia, a form of PNH, is a major feature in several syndromes associated with anti-CASPR2 antibodies, including cramp-fasciculation syndrome, Isaacs syndrome, Morvan syndrome, and autoimmune limbic encephalitis. ...Paraneoplastic associations …
SUMMARY: Neuromyotonia, a form of PNH, is a major feature in several syndromes associated with anti-CASPR2 antibodies, including cramp-fasci …
Phosphoinositides in the kidney.
Staiano L, De Matteis MA. Staiano L, et al. J Lipid Res. 2019 Feb;60(2):287-298. doi: 10.1194/jlr.R089946. Epub 2018 Oct 12. J Lipid Res. 2019. PMID: 30314999 Free PMC article. Review.
Most of the knowledge of the roles that PIs play in the kidney comes from the study of KO animal models for genes encoding PI enzymes and from the study of human genetic diseases, such as Lowe syndrome/Dent disease 2 and Joubert syndrome, caused by mut …
Most of the knowledge of the roles that PIs play in the kidney comes from the study of KO animal models for genes encoding PI enzymes and fr …
Nonparaneoplastic autoimmune cerebellar ataxias.
Joubert B, Honnorat J. Joubert B, et al. Curr Opin Neurol. 2019 Jun;32(3):484-492. doi: 10.1097/WCO.0000000000000678. Curr Opin Neurol. 2019. PMID: 30694927 Review.
SUMMARY: Nonparaneoplastic ACA encompasses postinfectious acute cerebellar ataxia, opsoclonus-myoclonus-ataxia syndrome, and pure cerebellar ataxia with or without autoantibodies. ...However, although anti-glutamate decarboxylase isotype 65 (GAD65), anti-contactin-associat …
SUMMARY: Nonparaneoplastic ACA encompasses postinfectious acute cerebellar ataxia, opsoclonus-myoclonus-ataxia syndrome, and pure cer …
Ciliary Genes in Renal Cystic Diseases.
Adamiok-Ostrowska A, Piekiełko-Witkowska A. Adamiok-Ostrowska A, et al. Cells. 2020 Apr 8;9(4):907. doi: 10.3390/cells9040907. Cells. 2020. PMID: 32276433 Free PMC article. Review.
Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in polycystic kidney disease and nephr …
Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bardet …
Joubert syndrome: a review.
Saraiva JM, Baraitser M. Saraiva JM, et al. Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415. Am J Med Genet. 1992. PMID: 1341417 Review.
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. ...We propose a classification of th …
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic cri …
Renal cystic disease and associated ciliopathies.
Kagan KO, Dufke A, Gembruch U. Kagan KO, et al. Curr Opin Obstet Gynecol. 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. Curr Opin Obstet Gynecol. 2017. PMID: 28151755 Review.
Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaciodigital syndrome type 1, respectively. ...
Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome …
OFD Type I syndrome: lessons learned from a rare ciliopathy.
Morleo M, Franco B. Morleo M, et al. Biochem Soc Trans. 2020 Oct 30;48(5):1929-1939. doi: 10.1042/BST20191029. Biochem Soc Trans. 2020. PMID: 32897366 Review.
The OFD1 gene was initially identified as the gene responsible for the X-linked dominant male lethal OFD type I syndrome, a developmental disorder ascribed to cilia disfunction. The transcript has been subsequently associated to four different X-linked recessive conditions …
The OFD1 gene was initially identified as the gene responsible for the X-linked dominant male lethal OFD type I syndrome, a developme …
[Report of a case with Joubert syndrome and literature review].
Yi YH, Li G, Lu ZL, Zhou JS, Yao ZW, Wang PF, Yao JX. Yi YH, et al. Zhonghua Er Ke Za Zhi. 2011 Dec;49(12):939-42. Zhonghua Er Ke Za Zhi. 2011. PMID: 22336363 Review. Chinese.
RESULT: The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breat …
RESULT: The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All th …
Phosphoinositide phosphatases: just as important as the kinases.
Dyson JM, Fedele CG, Davies EM, Becanovic J, Mitchell CA. Dyson JM, et al. Subcell Biochem. 2012;58:215-79. doi: 10.1007/978-94-007-3012-0_7. Subcell Biochem. 2012. PMID: 22403078 Review.
Growth factor or insulin stimulation activates the phosphoinositide 3-kinase that phosphorylates phosphatidylinositol (4,5)-bisphosphate [PtdIns(4,5)P(2)] to form phosphatidylinositol (3,4,5)-trisphosphate [PtdIns(3,4,5)P(3)], which is rapidly dephosphorylated either by PT …
Growth factor or insulin stimulation activates the phosphoinositide 3-kinase that phosphorylates phosphatidylinositol (4,5)-bisphosphate [Pt …
44 results