PMC Articles for MedGen (Select 96578) - PMC - NCBI

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Items: 11

Select item 107047171.

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang, Wanqin Xie

BMC Med Genomics. 2023; 16: 318. Published online 2023 Dec 7. doi: 10.1186/s12920-023-01753-y

PMCID:: PMC10704717

Abstract Article PDF–1.7M

Select item 87641202.

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie-Pierre Audrézet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J.M. Peters, Albert C.M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Sayer, Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Peter C. Harris

Am J Hum Genet. 2022 Jan 6; 109(1): 136–156. Published online 2021 Dec 9. doi: 10.1016/j.ajhg.2021.11.016

PMCID:: PMC8764120

Abstract Article PDF–2.5M

Select item 77675513.

Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy

Xinyue Zhang, Yanqin You, Xiaoxiao Xie, Hong Xu, Honghui Zhou, Yuanmei Lei, Pei Sun, Yuanguang Meng, Longxia Wang, Yanping Lu

Mol Genet Genomic Med. 2020 Dec; 8(12): e1524. Published online 2020 Oct 8. doi: 10.1002/mgg3.1524

PMCID:: PMC7767551

Abstract Article PDF–1.1M

Select item 53495274.

Suggestive evidence of a multi-cytokine resistin pathway in humans and its role on cardiovascular events in high-risk individuals

Claudia Menzaghi, Antonella Marucci, Alessandra Antonucci, Concetta De Bonis, Lorena Ortega Moreno, Lucia Salvemini, Massimiliano Copetti, Vincenzo Trischitta, Rosa Di Paola

Sci Rep. 2017; 7: 44337. Published online 2017 Mar 14. doi: 10.1038/srep44337

PMCID:: PMC5349527

Abstract Article PDF–471K

Select item 49818625.

The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans

Shinsuke Niwa

Sci Rep. 2016; 6: 31544. Published online 2016 Aug 12. doi: 10.1038/srep31544

PMCID:: PMC4981862

Abstract Article PDF–1.4M

Select item 48251206.

Arabidopsis Small Rubber Particle Protein Homolog SRPs Play Dual Roles as Positive Factors for Tissue Growth and Development and in Drought Stress Responses

Eun Yu Kim, Ki Youl Park, Young Sam Seo, Woo Taek Kim

Plant Physiol. 2016 Apr; 170(4): 2494–2510. Published online 2016 Feb 22. doi: 10.1104/pp.16.00165

PMCID:: PMC4825120

Abstract Article PDF–2.8M

Select item 47313327.

Circularization restores signal recognition particle RNA functionality in Thermoproteus

André Plagens, Michael Daume, Julia Wiegel, Lennart Randau

eLife. 2015; 4: e11623. Published online 2015 Oct 24. doi: 10.7554/eLife.11623

PMCID:: PMC4731332

Abstract Article PDF–1.2M

Select item 45928568.

Distribution, Activities, and Interactions of Methanogens and Sulfate-Reducing Prokaryotes in the Florida Everglades

Hee-Sung Bae, M. Elizabeth Holmes, Jeffrey P. Chanton, K. Ramesh Reddy, Andrew Ogram

Appl Environ Microbiol. 2015 Nov; 81(21): 7431–7442. Published online 2015 Aug 14. doi: 10.1128/AEM.01583-15

PMCID:: PMC4592856

Abstract Article PDF–1.4M

Select item 5351489.

Microarray and Functional Gene Analyses of Sulfate-Reducing Prokaryotes in Low-Sulfate, Acidic Fens Reveal Cooccurrence of Recognized Genera and Novel Lineages

Alexander Loy, Kirsten Küsel, Angelika Lehner, Harold L. Drake, Michael Wagner

Appl Environ Microbiol. 2004 Dec; 70(12): 6998–7009. doi: 10.1128/AEM.70.12.6998-7009.2004

PMCID:: PMC535148

Abstract Article PDF–581K

Select item 36332410.

Simian virus 40 T antigen alters the binding characteristics of specific simian DNA-binding factors.

G J Gallo, G Gilinger, J C Alwine

Mol Cell Biol. 1988 Apr; 8(4): 1648–1656. doi: 10.1128/mcb.8.4.1648

PMCID:: PMC363324

Summary Page Browse PDF–1.8M

Select item 2653811.

A novel precursor recognition element facilitates posttranslational binding to the signal recognition particle in chloroplasts

Justin DeLille, Eric C. Peterson, Tracey Johnson, Misty Moore, Alicia Kight, Ralph Henry

Proc Natl Acad Sci U S A. 2000 Feb 15; 97(4): 1926–1931. Published online 2000 Jan 31. doi: 10.1073/pnas.030395197

PMCID:: PMC26538

Abstract Article PDF–327K

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