PMC Articles for MedGen (Select 19860) - PMC

Céline Huber, Sulin Wu, Ashley S. Kim, Sabine Sigaudy, Anna Sarukhanov, Valérie Serre, Genevieve Baujat, Kim-Hanh Le Quan Sang, David L. Rimoin, Daniel H. Cohn, Arnold Munnich, Deborah Krakow, Valérie Cormier-Daire

Am J Hum Genet. 2013 Nov 7; 93(5): 926–931. doi: 10.1016/j.ajhg.2013.10.007

PMCID:: PMC3824112

Abstract Article PDF–781K

Select item 26810094.

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2009 May 15; 84(5): 706–711. doi: 10.1016/j.ajhg.2009.04.016

PMCID:: PMC2681009

Abstract Article PDF–925K

Select item 89177495.

Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis

Chen Cheng, Xiuxiu Li, Sheng Zhao, Qian Feng, Xiang Ren, Xinlin Chen

BMC Med Genomics. 2022; 15: 55. Published online 2022 Mar 12. doi: 10.1186/s12920-022-01205-z

PMCID:: PMC8917749

Abstract Article PDF–1.4M

Select item 84102326.

Review: Cytoplasmic dynein motors in photoreceptors

Tiffanie M. Dahl, Wolfgang Baehr

Mol Vis. 2021; 27: 506–517. Published online 2021 Sep 1.

PMCID:: PMC8410232

Abstract Article PDF–4.2M

Select item 55388197.

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type

N. Badiner, S.P. Taylor, K. Forlenza, R. S. Lachman, M. Bamshad, D. Nickerson, D. H. Cohn, D. Krakow

Clin Genet. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Clin Genet. 2017 Aug; 92(2): 158–165. Published online 2017 Mar 13. doi: 10.1111/cge.12947

PMCID:: PMC5538819

Abstract Article PDF–311K

Select item 52705358.

Genetic controls of DNA damage avoidance in response to acetaldehyde in fission yeast

Chiaki Noguchi, Grant Grothusen, Vinesh Anandarajan, Marta Martínez-Lage García, Daniel Terlecky, Krysten Corzo, Katsunori Tanaka, Hiroshi Nakagawa, Eishi Noguchi

Cell Cycle. 2017; 16(1): 45–58. Published online 2016 Sep 29. doi: 10.1080/15384101.2016.1237326

PMCID:: PMC5270535

Abstract Article PDF–1.5M

Select item 18912779.

Ellis-Van Creveld syndrome

Geneviève Baujat, Martine Le Merrer

Orphanet J Rare Dis. 2007; 2: 27. Published online 2007 Jun 4. doi: 10.1186/1750-1172-2-27

PMCID:: PMC1891277

Abstract Article PDF–449K

Select item 104937710.

Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

R Bernstein, J Isdale, M Pinto, J Du Toit Zaaijman, T Jenkins

J Med Genet. 1985 Feb; 22(1): 46–53. doi: 10.1136/jmg.22.1.46

PMCID:: PMC1049377

Summary Page Browse PDF–1.3M

Select item 980855011.

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

Muqsit Buchh, Patrick J. Gillespie, Kayla Treat, Marco A. Abreu, Tae-Hwi Linus Schwantes-An, Benjamin M. Helm, Fang Fang, Xiaoling Xuei, Lili Mantcheva, Kristen R. Suhrie, Brett H. Graham, Erin Conboy, Francesco Vetrini

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006254. doi: 10.1101/mcs.a006254

PMCID:: PMC9808550

Abstract Article PDF–3.4M

Select item 839158012.

Ciliary Dyneins and Dynein Related Ciliopathies

Dinu Antony, Han G. Brunner, Miriam Schmidts

Cells. 2021 Aug; 10(8): 1885. Published online 2021 Jul 25. doi: 10.3390/cells10081885

PMCID:: PMC8391580

Abstract Article PDF–3.4M

Select item 780439913.

SRPS associated protein WDR60 regulates the multipolar-to-bipolar transition of migrating neurons during cortical development

Cui Li, Yu Zheng, Yufang Zheng, Zhiheng Xu

Cell Death Dis. 2021 Jan; 12(1): 75. Published online 2021 Jan 12. doi: 10.1038/s41419-020-03363-3

PMCID:: PMC7804399

Abstract Article PDF–4.8M

Select item 776755114.

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 703468415.

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

Dario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, Lorenzo Sinibaldi, Marco Castori, Evelina Silvestri, Andrea Dotta, Bruno Dallapiccola, Antonio Novelli

Medicine (Baltimore) 2020 Feb; 99(8): e19169. Published online 2020 Feb 21. doi: 10.1097/MD.0000000000019169

PMCID:: PMC7034684

Abstract Article PDF–550K

Select item 655700016.

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

Marian Seda, Emma Peskett, Charalambos Demetriou, Dale Bryant, Gudrun E. Moore, Philip Stanier, Dagan Jenkins

Version 1. F1000Res. 2019; 8: 273. Published online 2019 Mar 11. doi: 10.12688/f1000research.17314.1

PMCID:: PMC6557000

Abstract Article PDF–2.2M

Select item 529123517.

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

Wenjuan Zhang, S. Paige Taylor, Lisette Nevarez, Ralph S. Lachman, Deborah A. Nickerson, Michael Bamshad, University of Washington Center for Mendelian Genomics Consortium, Deborah Krakow, Daniel H. Cohn

Hum Mol Genet. 2016 Sep 15; 25(18): 4012–4020. Published online 2016 Jul 27. doi: 10.1093/hmg/ddw241

PMCID:: PMC5291235

Abstract Article PDF–814K

Select item 529123418.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

S. Paige Taylor, Michaela Kunova Bosakova, Miroslav Varecha, Lukas Balek, Tomas Barta, Lukas Trantirek, Iva Jelinkova, Ivan Duran, Iva Vesela, Kimberly N. Forlenza, Jorge H. Martin, Ales Hampl, University of Washington Center for Mendelian Genomics, Michael Bamshad, Deborah Nickerson, Margie L. Jaworski, Jieun Song, Hyuk Wan Ko, Daniel H. Cohn, Deborah Krakow, Pavel Krejci

Hum Mol Genet. 2016 Sep 15; 25(18): 3998–4011. Published online 2016 Jul 27. doi: 10.1093/hmg/ddw240

PMCID:: PMC5291234

Abstract Article PDF–2.1M

Select item 461462619.

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis

Ankur A. Gholkar, Silvia Senese, Yu-Chen Lo, Joseph Capri, William J Deardorff, Harish Dharmarajan, Ely Contreras, Emmanuelle Hodara, Julian P Whitelegge, Peter K Jackson, Jorge Z Torres

Cell Cycle. 2015 Apr 1; 14(7): 1116–1125. Published online 2015 Apr 1. doi: 10.4161/15384101.2014.985066

PMCID:: PMC4614626

Abstract Article PDF–1.1M

Select item 457327020.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

Am J Hum Genet. 2015 Aug 6; 97(2): 311–318. doi: 10.1016/j.ajhg.2015.06.003

Correction in:: Am J Hum Genet. 2015 Aug 6; 97(2): 353.

PMCID:: PMC4573270

Abstract Article PDF–1.4M

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