PubMed Latest Articles
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
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12 December 2018
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Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report.
Related Articles Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report.
Pan Afr Med J. 2018;30:172
Authors: Bolaji O, Erinomo O, Adebara O, Okolugbo J, Onumajuru B, Akanni T, Adebami O
Abstract
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Autosomal recessive polycystic kidney disease (ARPKD) is a -
Recognizing Hereditary Renal Cancers Through the Microscope: A Pathology Update.
Related Articles Recognizing Hereditary Renal Cancers Through the Microscope: A Pathology Update.
Surg Pathol Clin. 2018 Dec;11(4):725-737
Authors: Peng YC, Chen YB
Abstract
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A heightened understanding of hereditary renal cancer syndromes and their molecular basis has led to an increased awareness and recognition of these renal neoplasms by pathologists. Because -
Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease: The DIPAK 1 Randomized Clinical Trial.
Related Articles Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease: The DIPAK 1 Randomized Clinical Trial.
JAMA. 2018 11 20;320(19):2010-2019
Authors: Meijer E, Visser FW, van Aerts RMM, Blijdorp CJ, Casteleijn NF, D'Agnolo HMA, Dekker SEI, Drenth JPH, de Fijter JW, van Gastel MDA, Gevers TJ, Lantinga MA, Losekoot M, Messchendorp
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Clinical Features of 167 Inpatients with Autosomal Dominant Polycystic Kidney Disease at a Single Center in China.
Related Articles Clinical Features of 167 Inpatients with Autosomal Dominant Polycystic Kidney Disease at a Single Center in China.
Med Sci Monit. 2018 Sep 16;24:6498-6505
Authors: Meng J, Xu Y, Li A, Fan S, Shen X, Ma D, Zhang L, Hao Z, Zhang X, Liang C
Abstract
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BACKGROUND The aim of this study was to describe the clinical characteristics of Chinese ADPKD inpatients and -
[Preimplantation genetic diagnosis for infertile males with autosomal dominant polycystic kidney disease].
Related Articles [Preimplantation genetic diagnosis for infertile males with autosomal dominant polycystic kidney disease].
Zhonghua Nan Ke Xue. 2018 May;24(5):409-413
Authors: Yang XY, Li T, Liu XJ, Shen JD, Cui YG, Zhang GR, Liu JY
Abstract
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Objective: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic renal diseases, which may cause oligoasthenospermia and azoospermia and result in male infertility. This -
Immunodeficiency in a Child with Alström Syndrome.
Related Articles Immunodeficiency in a Child with Alström Syndrome.
Indian J Pediatr. 2018 10;85(10):924-926
Authors: Ozdemir TR, Karaca NE, Marshall JD, Kutukculer N, Aksu G, Ozgul RK, Ozanturk A, Isik E, Akgun B, Ozdemir HH, Darcan S, Ozkinay F, Cogulu O
PMID: 30155784 [PubMed - indexed for MEDLINE]
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Surgical treatment for monolobular Caroli's disease ‒ Report of a 30-year single center case series.
Related Articles Surgical treatment for monolobular Caroli's disease ‒ Report of a 30-year single center case series.
Biosci Trends. 2018 Sep 19;12(4):426-431
Authors: Yamaguchi T, Cristaudi A, Kokudo T, Uldry E, Demartines N, Halkic N
Abstract
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Congenital intrahepatic bile duct dilatation (Caroli's disease) is a rare biliary disease. Although multiple reports exist describing its -
Subclinical metabolic and cardiovascular abnormalities in autosomal dominant polycystic kidney disease
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Related Articles Subclinical metabolic and cardiovascular abnormalities in autosomal dominant polycystic kidney disease .
Clin Nephrol. 2018 Oct;90(4):237-245
Authors: Chirumamilla R, Mina D, Siyahian S, Park M
Abstract
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Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent genetic kidney disease. It carries high lifetime morbidity not only due to -
Polycystin-1, the product of the polycystic kidney disease gene PKD1, is post-translationally modified by palmitoylation.
Related Articles Polycystin-1, the product of the polycystic kidney disease gene PKD1, is post-translationally modified by palmitoylation.
Mol Biol Rep. 2018 Oct;45(5):1515-1521
Authors: Roy K, Marin EP
Abstract
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Multiple distinct mutations in the protein polycystin 1 (PC1) cause autosomal dominant polycystic kidney disease (ADPKD), a common cause of end stage renal disease. Growing -
Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.
Related Articles Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.
Int J Oncol. 2018 Oct;53(4):1455-1468
Authors: Gattolliat CH, Couvé S, Meurice G, Oréar C, Droin N, Chiquet M, Ferlicot S, Verkarre V, Vasiliu V, Molinié V, Méjean A, Dessen P, Giraud S, Bressac-De-Paillerets B, Gardie B, Tean Teh B,
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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Related Articles Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Am J Hum Genet. 2018 05 03;102(5):973-984
Authors: Höben IM, Hjeij R,
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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Related Articles C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Am J Hum Genet. 2018 05 03;102(5):956-972
Authors: Fassad MR, Shoemark A, le
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Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Related Articles Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Am J Hum Genet. 2018 05 03;102(5):832-844
Authors: Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM,
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Saikosaponin-d inhibits proliferation by up-regulating autophagy via the CaMKKβ-AMPK-mTOR pathway in ADPKD cells.
Related Articles Saikosaponin-d inhibits proliferation by up-regulating autophagy via the CaMKKβ-AMPK-mTOR pathway in ADPKD cells.
Mol Cell Biochem. 2018 Dec;449(1-2):219-226
Authors: Shi W, Xu D, Gu J, Xue C, Yang B, Fu L, Song S, Liu D, Zhou W, Lv J, Sun K, Chen M, Mei C
Abstract
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Autosomal dominant polycystic kidney disease (ADPKD) is a common heritable human disease. Recently, -
Complete supine percutaneous nephrolithotomy with GoPro®. Ten steps for success.
Related Articles Complete supine percutaneous nephrolithotomy with GoPro®. Ten steps for success.
Int Braz J Urol. 2018 Sep-Oct;44(5):1046
Authors: Vicentini FC, Dos Santos HDB, Batagello CA, Amundson JR, Oliveira EP, Marchini GS, Srougi M, Nahas WC, Mazzucchi E
Abstract
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OBJECTIVE: To show -
A review of the etiology and clinical presentation of non-cystic fibrosis bronchiectasis: A tertiary care experience.
Related Articles A review of the etiology and clinical presentation of non-cystic fibrosis bronchiectasis: A tertiary care experience.
Respir Med. 2018 04;137:35-39
Authors: Satırer O, Mete Yesil A, Emiralioglu N, Tugcu GD, Yalcın E, Dogru D, Kiper N, Ozcelik U
Abstract
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INTRODUCTION: Non-cystic fibrosis(CF) bronchiectasis has been recognized in children for the -
2017 Curt Stern Award: The Complexity of Simple Genetics.
Related Articles 2017 Curt Stern Award: The Complexity of Simple Genetics.
Am J Hum Genet. 2018 Mar 01;102(3):355-358
Authors: Katsanis N
PMID: 29499161 [PubMed - indexed for MEDLINE]
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Effect of dimethyl fumarate on renal disease progression in a genetic ortholog of nephronophthisis.
Related Articles Effect of dimethyl fumarate on renal disease progression in a genetic ortholog of nephronophthisis.
Exp Biol Med (Maywood). 2018 03;243(5):428-436
Authors: Oey O, Rao P, Luciuk M, Mannix C, Rogers NM, Sagar P, Wong A, Rangan G
Abstract
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Dimethyl fumarate is an -
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.
Related Articles The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.
J Clin Endocrinol Metab. 2018 05 01;103(5):1834-1841
Authors: Mujahid S, Hunt KF, Cheah YS, Forsythe E, Hazlehurst JM, Sparks K, Mohammed S, Tomlinson JW, Amiel SA, Carroll PV, Beales PL, Huda MSB, McGowan BM
Abstract
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Context: Bardet-Biedl -
Gas in a renal allograft: think beyond!
Related Articles Gas in a renal allograft: think beyond!
Kidney Int. 2018 01;93(1):272
Authors: Etta PK, Rao MV
PMID: 29291823 [PubMed - indexed for MEDLINE]
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Baseline total kidney volume and the rate of kidney growth are associated with chronic kidney disease progression in Autosomal Dominant Polycystic Kidney Disease.
Related Articles Baseline total kidney volume and the rate of kidney growth are associated with chronic kidney disease progression in Autosomal Dominant Polycystic Kidney Disease.
Kidney Int. 2018 03;93(3):691-699
Authors: Yu ASL, Shen C, Landsittel DP, Harris PC, Torres VE, Mrug M, Bae KT, Grantham JJ, Rahbari-Oskoui FF, Flessner MF, Bennett WM, Chapman AB, Consortium for Radiologic
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