PMC Links for Nucleotide (Select 1519241817) - PMC

Select item 48691701.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 13601272.

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

Heymut Omran, Carmen Fernandez, Martin Jung, Karsten Häffner, Bernardo Fargier, Aminta Villaquiran, Rüdiger Waldherr, Norbert Gretz, Matthias Brandis, Franz Rüschendorf, André Reis, Friedhelm Hildebrandt

Am J Hum Genet. 2000 Jan; 66(1): 118–127. Published online 1999 Dec 21. doi: 10.1086/302705

PMCID:: PMC1360127

Abstract Article PDF–749K

Select item 64976663.

Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells

Jae-Wook Lee, Hong Sug Kim, Eun-Yi Moon

Sci Rep. 2019; 9: 6849. Published online 2019 May 2. doi: 10.1038/s41598-019-43235-1

PMCID:: PMC6497666

Abstract Article PDF–2.9M

Select item 52978704.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith

Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970

PMCID:: PMC5297870

Abstract Article PDF–172K

Select item 51496835.

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population

Chuphong Thongnak, Pornprot Limprasert, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Chonlaphat Sukasem, Wasun Chantratita

Dis Markers. 2016; 2016: 3684965. Published online 2016 Nov 28. doi: 10.1155/2016/3684965

PMCID:: PMC5149683

Abstract Article PDF–1.8M

Select item 48535426.

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Maha Tulbah, Maha Alnemer, Rubina Khan, Haya Al-Jurayb, Ahmed Alahmed, Asma I Tahir, Dania Khalil, Noel Edwards, Basma Al Abdulaziz, Faisal S Binhumaid, Salma Majid, Tariq Faquih, Mohamed El-Kalioby, Mohamed Abouelhoda, Nada Altassan, Dorota Monies, Brian Meyer, John A Sayer, Mamdouh Albaqumi

J Med Genet. 2016 May; 53(5): 338–347. Published online 2016 Feb 9. doi: 10.1136/jmedgenet-2015-103469

PMCID:: PMC4853542

Abstract Article PDF–2.1M

Select item 39130437.

Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy

Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt

J Med Genet. Author manuscript; available in PMC 2014 Feb 4.

Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552

Correction in:: J Med Genet. 2015 Dec; 52(12): 866.

PMCID:: PMC3913043

Abstract Article PDF–3.0M

Select item 27977278.

Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping

Torunn Fiskerstrand, Gunnar Houge, Staale Sund, David Scheie, Sabine Leh, Helge Boman, Per M. Knappskog

J Mol Diagn. 2010 Jan; 12(1): 125–131. doi: 10.2353/jmoldx.2010.090033

PMCID:: PMC2797727

Abstract Article PDF–1.2M

Select item 27854739.

CD38/CD31 interactions activate genetic pathways leading to proliferation and migration in chronic lymphocytic leukemia cells

Silvia Deaglio, Semra Aydin, Maurizia Mello Grand, Tiziana Vaisitti, Luciana Bergui, Giovanni D’Arena, Giovanna Chiorino, Fabio Malavasi

Mol Med. 2010 Mar-Apr; 16(3-4): 87–91. Published online 2009 Nov 28. doi: 10.2119/molmed.2009.00146

PMCID:: PMC2785473

Abstract Article PDF–245K

Select item 242729710.

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, Valeska Frank, Heike Olbrich, Jan Kirschner, Bernhard Schermer, Ingolf Schmedding, Andreas Kispert, Bettina Kränzlin, Gudrun Nürnberg, Christian Becker, Tiemo Grimm, Gundula Girschick, Sally A. Lynch, Peter Kelehan, Jan Senderek, Thomas J. Neuhaus, Thomas Stallmach, Hanswalter Zentgraf, Peter Nürnberg, Norbert Gretz, Cecilia Lo, Soeren Lienkamp, Tobias Schäfer, Gerd Walz, Thomas Benzing, Klaus Zerres, Heymut Omran

Am J Hum Genet. 2008 Apr 11; 82(4): 959–970. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.02.017

PMCID:: PMC2427297

Abstract Article PDF–1.7M

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