PMC Articles for MedGen (Select 382033) - PMC

Select item 109429411.

Ocular manifestations of renal ciliopathies

Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige

Pediatr Nephrol. 2024; 39(5): 1327–1346. Published online 2023 Aug 30. doi: 10.1007/s00467-023-06096-5

PMCID:: PMC10942941

Article PDF–1.4M

Select item 96617872.

Kennedy’s disease presented with mastication fatigue combined with positive titin antibody: a case report

Guang Ji, Rui Huang, Xiaomeng Zhou, Cuifang Cao, Qiong Wu, Zhenfei Li, Hui Dong, Xueqin Song, Yaling Liu

BMC Neurol. 2022; 22: 425. Published online 2022 Nov 14. doi: 10.1186/s12883-022-02971-0

PMCID:: PMC9661787

Article PDF–1.0M

Select item 86701953.

Genome-wide and comparative phylogenetic analysis of senescence-associated NAC transcription factors in sunflower (Helianthus annuus)

Sofia A. Bengoa Luoni, Alberto Cenci, Sebastian Moschen, Salvador Nicosia, Laura M. Radonic, Julia V. Sabio y García, Nicolas B. Langlade, Denis Vile, Cecilia Vazquez Rovere, Paula Fernandez

BMC Genomics. 2021; 22: 893. Published online 2021 Dec 14. doi: 10.1186/s12864-021-08199-5

Correction in:: BMC Genomics. 2022; 23: 24.

PMCID:: PMC8670195

Article PDF–7.4M

Select item 73899004.

1例遗传性血管病、肾病、动脉瘤和肌肉痉挛综合征幼儿的临床特征及COL4A1基因型研究

单丽丹, 彭镜, 肖慧, 吴丽文, 段浩林, 庞楠, Kessi Miriam, 尹飞

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Aug 25; 21(8): 754–760. Chinese. doi: 10.7499/j.issn.1008-8830.2019.08.004

PMCID:: PMC7389900

Article PDF–1.6M

Select item 67452455.

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

Thomas M. Kitzler, Ronen Schneider, Stefan Kohl, Caroline M. Kolvenbach, Dervla M. Connaughton, Rufeng Dai, Nina Mann, Makiko Nakayama, Amar J. Majmundar, Chen-Han W. Wu, Jameela A. Kari, Sherif M. El Desoky, Prabha Senguttuvan, Radovan Bogdanovic, Natasa Stajic, Zaheer Valivullah, Monkol Lek, Shrikant Mane, Richard P. Lifton, Velibor Tasic, Shirlee Shril, Friedhelm Hildebrandt

Hum Genet. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: Hum Genet. 2019 Oct; 138(10): 1105–1115. Published online 2019 Jun 22. doi: 10.1007/s00439-019-02042-4

PMCID:: PMC6745245

Article PDF–1.0M

Select item 60578246.

The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations

Emilie Cornec-Le Gall, Fouad T Chebib, Charles D Madsen, Sarah R Senum, Christina M. Heyer, Brendan C Lanpher, Marc C Patterson, Robert C Albright, Alan S Yu, Vicente E Torres, Peter C Harris

Am J Kidney Dis. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Am J Kidney Dis. 2018 Aug; 72(2): 302–308. Published online 2018 Feb 1. doi: 10.1053/j.ajkd.2017.11.015

PMCID:: PMC6057824

Article PDF–644K

Select item 53893617.

HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect

Simon Guiraud, Tiffany Migeon, Arnaud Ferry, Zhiyong Chen, Souhila Ouchelouche, Marie-Christine Verpont, Yoshikazu Sado, Valérie Allamand, Pierre Ronco, Emmanuelle Plaisier

Am J Pathol. 2017 Mar; 187(3): 505–516. doi: 10.1016/j.ajpath.2016.10.020

PMCID:: PMC5389361

Article PDF–3.2M

Select item 50916148.

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

Daniel P. Gale, D. Deren Oygar, Fujun Lin, P. Derin Oygar, Nadia Khan, Thomas M.F. Connor, Marta Lapsley, Patrick H. Maxwell, Guy H. Neild

Nephrol Dial Transplant. 2016 Nov; 31(11): 1908–1914. Published online 2016 Apr 8. doi: 10.1093/ndt/gfw051

PMCID:: PMC5091614

Article PDF–544K

Select item 48141769.

HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease

Zhiyong Chen, Tiffany Migeon, Marie-Christine Verpont, Mohamad Zaidan, Yoshikazu Sado, Dontscho Kerjaschki, Pierre Ronco, Emmanuelle Plaisier

J Am Soc Nephrol. 2016 Apr; 27(4): 1042–1054. Published online 2015 Aug 10. doi: 10.1681/ASN.2014121217

PMCID:: PMC4814176

Article

Select item 480098410.

Mapping structural landmarks, ligand binding sites and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions and variation in phenotypes in inherited diseases affecting basement membranes

J. Des Parkin, James D. San Antonio, Vadim Pedchenko, Billy Hudson, Shane T. Jensen, Judy Savige

Hum Mutat. Author manuscript; available in PMC 2016 Mar 21.

Published in final edited form as: Hum Mutat. 2011 Feb; 32(2): 127–143. doi: 10.1002/humu.21401

PMCID:: PMC4800984

Article PDF–1.5M

Select item 478224211.

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Friederike Werheid, Hamid Azzedine, Eva Zwerenz, Ahmet Bozkurt, Marcus J. Moeller, Lilian Lin, Michael Mull, Martin Häusler, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys

Brain Behav. 2016 Apr; 6(4): e00451. Published online 2016 Mar 4. doi: 10.1002/brb3.451

PMCID:: PMC4782242

Article PDF–847K

Select item 333576212.

COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage

Yi-Chinn Weng, Akshata Sonni, Cassandre Labelle-Dumais, Michelle de Leau, W. Berkeley Kauffman, Marion Jeanne, Alessandro Biffi, Steven M. Greenberg, Jonathan Rosand, Douglas B. Gould

Ann Neurol. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Ann Neurol. 2012 Apr; 71(4): 470–477. doi: 10.1002/ana.22682

PMCID:: PMC3335762

Article PDF–769K

Select item 319958313.

Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume

Tom Van Agtmael, Matthew A Bailey, Ursula Schlötzer-Schrehardt, Eilidh Craigie, Ian J Jackson, David G. Brownstein, Ian L Megson, John J Mullins

Hum Mol Genet. Author manuscript; available in PMC 2011 Oct 24.

Published in final edited form as: Hum Mol Genet. 2010 Mar 15; 19(6): 1119–1128. Published online 2010 Jan 7. doi: 10.1093/hmg/ddp584

PMCID:: PMC3199583

Article PDF–1.5M

Select item 288185914.

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

S Alamowitch, E Plaisier, P Favrole, C Prost, Z Chen, T Van Agtmael, B Marro, P Ronco

Neurology. 2009 Dec 1; 73(22): 1873–1882. doi: 10.1212/WNL.0b013e3181c3fd12

PMCID:: PMC2881859

Article PDF–3.3M

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