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Select item 107569071.

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants

Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski

Front Mol Biosci. 2023; 10: 1285790. Published online 2023 Dec 12. doi: 10.3389/fmolb.2023.1285790

PMCID:: PMC10756907

Abstract Article PDF–2.0M

Select item 104549092.

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

Margarita Sharova, Tatyana Markova, Maria Sumina, Marina Petukhova, Maria Bulakh, Oxana Ryzhkova, Tatyana Nagornova, Sofya Ionova, Andrey Marakhonov, Elena Dadali, Sergey Kutsev

Genes (Basel) 2023 Aug; 14(8): 1553. Published online 2023 Jul 28. doi: 10.3390/genes14081553

PMCID:: PMC10454909

Abstract Article PDF–1.2M

Select item 104366383.

Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature

Lijie Li, Cuihua Liu, Ming Tian, Guangbo Li, Jitong Li

BMC Pediatr. 2023; 23: 407. Published online 2023 Aug 18. doi: 10.1186/s12887-023-04110-1

PMCID:: PMC10436638

Abstract Article PDF–1.1M

Select item 89140394.

Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)

Joanna Ryżko, Joanna Walczak-Sztulpa, Piotr Czubkowski, Anna Latos-Bieleńska, Adam Kowalski, Marek Stefanowicz, Wioletta Jarmużek, Ryszard Grenda, Joanna Pawłowska

Front Pediatr. 2022; 10: 834064. Published online 2022 Feb 25. doi: 10.3389/fped.2022.834064

PMCID:: PMC8914039

Abstract Article PDF–1.8M

Select item 78850815.

A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report

Qi Yang, Qiang Zhang, Fei Chen, Shang Yi, Mengting Li, Sheng Yi, Xingmin Xu, Jingsi Luo

Exp Ther Med. 2021 Apr; 21(4): 311. Published online 2021 Feb 1. doi: 10.3892/etm.2021.9742

PMCID:: PMC7885081

Abstract Article PDF–602K

Select item 39600516.

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

Anas M Alazami, Mohammed Zain Seidahmed, Fatema Alzahrani, Adam O Mohammed, Fowzan S Alkuraya

Mol Genet Genomic Med. 2014 Mar; 2(2): 103–106. Published online 2013 Dec 10. doi: 10.1002/mgg3.44

PMCID:: PMC3960051

Abstract Article PDF–1.1M

Select item 30320677.

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A. Brown, Francesco Emma, Claus Klingenberg, Raoul C. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, Marian Krawczynski, Jacek Zachwieja, Danuta Zwolinska, Philip L. Beales, Hans-Hilger Ropers, Anna Latos-Bielenska, Andreas W. Kuss

Am J Hum Genet. 2010 Jun 11; 86(6): 949–956. doi: 10.1016/j.ajhg.2010.04.012

PMCID:: PMC3032067

Abstract Article PDF–1.0M

Select item 94191638.

Response of G protein-coupled receptor CED-1 in germline to polystyrene nanoparticles in Caenorhabditis elegans

Yunhan Yang, Wenting Dong, Qiuli Wu, Dayong Wang

Nanoscale Adv. 2021 Apr 6; 3(7): 1997–2006. Published online 2021 Feb 17. doi: 10.1039/d0na00867b

PMCID:: PMC9419163

Abstract Article PDF–1.5M

Select item 93880989.

trim-21 promotes proteasomal degradation of CED-1 for apoptotic cell clearance in C. elegans

Lei Yuan, Peiyao Li, Huiru Jing, Qian Zheng, Hui Xiao

eLife. 2022; 11: e76436. Published online 2022 Aug 5. doi: 10.7554/eLife.76436

PMCID:: PMC9388098

Abstract Article PDF–17M

Select item 624281910.

Engulfing cells promote neuronal regeneration and remove neuronal debris through distinct biochemical functions of CED-1

Hui Chiu, Yan Zou, Nobuko Suzuki, Yi-Wen Hsieh, Chiou-Fen Chuang, Yi-Chun Wu, Chieh Chang

Nat Commun. 2018; 9: 4842. Published online 2018 Nov 19. doi: 10.1038/s41467-018-07291-x

PMCID:: PMC6242819

Abstract Article PDF–2.8M

Select item 401351911.

Small GTPase CDC-42 promotes apoptotic cell corpse clearance in response to PAT-2 and CED-1 in C. elegans

L J Neukomm, S Zeng, A P Frei, P A Huegli, M O Hengartner

Cell Death Differ. 2014 Jun; 21(6): 845–853. Published online 2014 Mar 14. doi: 10.1038/cdd.2014.23

PMCID:: PMC4013519

Abstract Article PDF–1.7M

Select item 381617012.

CED-1, CED-7, and TTR-52 act in a pathway to regulate exoplasmic phosphatidylserine expression on apoptotic and phagocytic cells

James Mapes, Yu-Zen Chen, Anna Kim, Shohei Mitani, Byung-Ho Kang, Ding Xue

Curr Biol. Author manuscript; available in PMC 2013 Nov 4.

Published in final edited form as: Curr Biol. 2012 Jul 24; 22(14): 10.1016/j.cub.2012.05.052. Published online 2012 Jun 21. doi: 10.1016/j.cub.2012.05.052

PMCID:: PMC3816170

Abstract Article PDF–2.7M

Select item 335906013.

Dangerous liaisons: The apoptotic engulfment receptor Ced-1 links innate immunity to the unfolded protein response

Todd Lamitina, Sara Cherry

Dev Cell. Author manuscript; available in PMC 2012 May 23.

Published in final edited form as: Dev Cell. 2008 Jul; 15(1): 3–4. doi: 10.1016/j.devcel.2008.06.007

PMCID:: PMC3359060

Abstract Article PDF–485K

Select item 289645314.

C. elegans transthyretin-like protein TTR-52 mediates recognition of apoptotic cells by the CED-1 phagocyte receptor

Xiaochen Wang, Weida Li, Dongfeng Zhao, Bin Liu, Yong Shi, Baohui Chen, Hengwen Yang, Pengfei Guo, Xin Geng, Zhihong Shang, Erin Peden, Eriko Kage-Nakadai, Shohei Mitani, Ding Xue

Nat Cell Biol. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nat Cell Biol. 2010 Jul; 12(7): 655–664. Published online 2010 Jun 6. doi: 10.1038/ncb2068

PMCID:: PMC2896453

Abstract Article PDF–1.4M

Select item 251722615.

Unfolded Protein Response Genes Regulated by CED-1 are Required for Caenorhabditis elegans Innate Immunity

Kylie A. Haskins, Jonathan F. Russell, Nathan Gaddis, Holly K. Dressman, Alejandro Aballay

Dev Cell. Author manuscript; available in PMC 2009 Jul 1.

Published in final edited form as: Dev Cell. 2008 Jul; 15(1): 87–97. doi: 10.1016/j.devcel.2008.05.006

PMCID:: PMC2517226

Abstract Article PDF–3.1M

Select item 226782116.

Phagocytic Receptor CED-1 Initiates a Signaling Pathway for Degrading Engulfed Apoptotic Cells

Xiaomeng Yu, Nan Lu, Zheng Zhou

PLoS Biol. 2008 Mar; 6(3): e61. Published online 2008 Mar 18. doi: 10.1371/journal.pbio.0060061

PMCID:: PMC2267821

Abstract Article PDF–1.7M

Select item 789860717.

Ciliopathies: Coloring outside of the lines

Alanna Strong, Dong Li, Frank Mentch, Emma Bedoukian, Erum A. Hartung, Kevin Meyers, Cara Skraban, Jessica Wen, Livija Medne, Joseph Glessner, Deborah Watson, Ian Krantz, Hakon Hakonarson

Am J Med Genet A. 2021 Mar; 185(3): 687–694. Published online 2020 Dec 25. doi: 10.1002/ajmg.a.62013

PMCID:: PMC7898607

Abstract Article PDF–1.3M

Select item 722676118.

Ciliary Genes in Renal Cystic Diseases

Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska

Cells. 2020 Apr; 9(4): 907. Published online 2020 Apr 8. doi: 10.3390/cells9040907

PMCID:: PMC7226761

Abstract Article PDF–1.6M

Select item 699513819.

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska

Orphanet J Rare Dis. 2020; 15: 36. Published online 2020 Feb 1. doi: 10.1186/s13023-020-1303-2

PMCID:: PMC6995138

Abstract Article PDF–1.2M

Select item 619832420.

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

Wenjuan Zhang, S. Paige Taylor, Hayley A. Ennis, Kimberly N. Forlenza, Ivan Duran, Bing Li, Jorge A. Ortiz Sanchez, Lisette Nevarez, Deborah A. Nickerson, Michael Bamshad, University of Washington Center for Mendelian Genomics, Ralph S. Lachman, Deborah Krakow, Daniel H. Cohn

Hum Mutat. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Hum Mutat. 2018 Jan; 39(1): 152–166. Published online 2017 Nov 6. doi: 10.1002/humu.23362