PMC Articles for MedGen (Select 855697) - PMC

Select item 103589921.

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A. S. Knisely, Stanislav Kmoch, Milan Jirsa

PLoS One. 2023; 18(7): e0288907. Published online 2023 Jul 20. doi: 10.1371/journal.pone.0288907

PMCID:: PMC10358992

Article PDF–2.0M

Select item 101553422.

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann

Orphanet J Rare Dis. 2023; 18: 101. Published online 2023 May 2. doi: 10.1186/s13023-023-02706-5

PMCID:: PMC10155342

Article PDF–1.1M

Select item 91700643.

Agonists of prostaglandin E₂ receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Hugo Garcia, Alice S. Serafin, Flora Silbermann, Esther Porée, Amandine Viau, Clémentine Mahaut, Katy Billot, Éléonore Birgy, Meriem Garfa-Traore, Stéphanie Roy, Salomé Ceccarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot-Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean-Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier

Proc Natl Acad Sci U S A. 2022 May 3; 119(18): e2115960119. Published online 2022 Apr 28. doi: 10.1073/pnas.2115960119

PMCID:: PMC9170064

Article PDF–2.4M

Select item 82526534.

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Bram C. F. Veldman, Willemijn F. E. Kuper, Marc Lilien, Janneke H. M. Schuurs‐Hoeijmakers, Carlo Marcelis, Milan Phan, Ymkje Hettinga, Herman E. Talsma, Peter M. van Hasselt, Hanneke A. Haijes

Am J Med Genet A. 2021 Jul; 185(7): 2204–2210. Published online 2021 May 3. doi: 10.1002/ajmg.a.62225

PMCID:: PMC8252653

Article PDF–1.3M

Select item 77335325.

Loss of Anks6 leads to YAP deficiency and liver abnormalities

Merlin Airik, Markus Schüler, Blake McCourt, Anna-Carina Weiss, Nathan Herdman, Timo H Lüdtke, Eugen Widmeier, Donna B Stolz, Kari N Nejak-Bowen, Dean Yimlamai, Yijen L Wu, Andreas Kispert, Rannar Airik, Friedhelm Hildebrandt

Hum Mol Genet. 2020 Sep 15; 29(18): 3064–3080. Published online 2020 Sep 4. doi: 10.1093/hmg/ddaa197

PMCID:: PMC7733532

Article PDF–2.9M

Select item 62332176.

Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome

Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Noriyuki Murai, Zenichi Matsui, Hiroyuki Kubo, Hiroyuki Satoh, Senya Matsufuji, Tsuyoshi Takamura, Takashi Yokoo, Yoshihiro Omori, Takahisa Furukawa, Takeshi Iwata, Tadashi Nakano

Sci Rep. 2018; 8: 16733. Published online 2018 Nov 13. doi: 10.1038/s41598-018-35152-6

PMCID:: PMC6233217

Article PDF–3.7M

Select item 60543347.

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD

Rozemarijn Snoek, Jessica van Setten, Brendan J. Keating, Ajay K. Israni, Pamala A. Jacobson, William S. Oetting, Arthur J. Matas, Roslyn B. Mannon, Zhongyang Zhang, Weijia Zhang, Ke Hao, Barbara Murphy, Roman Reindl-Schwaighofer, Andreas Heinzl, Rainer Oberbauer, Ondrej Viklicky, Peter J. Conlon, Caragh P. Stapleton, Stephan J.L. Bakker, Harold Snieder, Edith D.J. Peters, Bert van der Zwaag, Nine V.A.M. Knoers, Martin H. de Borst, Albertien M. van Eerde

J Am Soc Nephrol. 2018 Jun; 29(6): 1772–1779. Published online 2018 Apr 13. doi: 10.1681/ASN.2017111200

PMCID:: PMC6054334

Article

Select item 55808008.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque

Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273

PMCID:: PMC5580800

Article PDF–2.4M

Select item 50575759.

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Markus Schueler, Jan Halbritter, Ian G. Phelps, Daniela A. Braun, Edgar A. Otto, Jonathan D. Porath, Heon Yung Gee, Jay Shendure, Brian J. O’Roak, Jennifer A. Lawson, Neveen A. Soliman, Marwa M. Nabhan, Dan Doherty, Friedhelm Hildebrandt

J Med Genet. Author manuscript; available in PMC 2016 Oct 11.

Published in final edited form as: J Med Genet. 2016 Mar; 53(3): 208–214. Published online 2015 Dec 16. doi: 10.1136/jmedgenet-2015-103304

PMCID:: PMC5057575

Article PDF–439K

Select item 500763910.

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy

Hee Gyung Kang, Hyun Kyung Lee, Yo Han Ahn, Je-Gun Joung, Jaeyong Nam, Nayoung K D Kim, Jung Min Ko, Min Hyun Cho, Jae Il Shin, Joon Kim, Hye Won Park, Young Seo Park, Il-Soo Ha, Woo Yeong Chung, Dae-Yeol Lee, Su Young Kim, Woong Yang Park, Hae Il Cheong

Exp Mol Med. 2016 Aug; 48(8): e251. Published online 2016 Aug 5. doi: 10.1038/emm.2016.63

PMCID:: PMC5007639

Article PDF–610K

Select item 467165411.

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

Bo Yuan, Pengfei Liu, Aditya Gupta, Christine R. Beck, Anusha Tejomurtula, Ian M. Campbell, Tomasz Gambin, Alexandra D. Simmons, Marjorie A. Withers, R. Alan Harris, Jeffrey Rogers, David C. Schwartz, James R. Lupski

PLoS Genet. 2015 Dec; 11(12): e1005686. Published online 2015 Dec 7. doi: 10.1371/journal.pgen.1005686

PMCID:: PMC4671654

Article PDF–6.0M

Select item 412147512.

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Pietrement, Hulya Kayserili, Rémi Salomon, Marie-Claire Gubler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier

Am J Hum Genet. 2014 Jun 5; 94(6): 905–914. doi: 10.1016/j.ajhg.2014.05.002

PMCID:: PMC4121475

Article PDF–2.8M

Select item 391304313.

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