U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from GEO Profiles

Items: 20

1.
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies
Volha V. Malechka, Catherine A. Cukras, Emily Y. Chew, Yuri V. Sergeev, Delphine Blain, Brett G. Jeffrey, Ehsan Ullah, Robert B. Hufnagel, Brian P. Brooks, Laryssa A. Huryn, Wadih M. Zein
Genes (Basel) 2022 May; 13(5): 925. Published online 2022 May 22. doi: 10.3390/genes13050925
PMCID:
PMC9140808
AbstractArticlePDF–3.1M
2.
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
Rola Ba-Abbad, Anthony G. Robson, Omar A. Mahroo, Genevieve Wright, Elena Schiff, Emma S. Duignan, Michel Michaelides, Gavin Arno, Andrew R. Webster
Eye (Lond) 2021 May; 35(5): 1482–1489. Published online 2020 Jul 17. doi: 10.1038/s41433-020-1045-3
PMCID:
PMC8182786
AbstractArticlePDF–1.2M
3.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
4.
A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis
Jiewen Fu, Lu Ma, Jingliang Cheng, Lisha Yang, Chunli Wei, Shangyi Fu, Hongbin Lv, Rui Chen, Junjiang Fu
J Cell Mol Med. 2018 Nov; 22(11): 5662–5669. Published online 2018 Aug 30. doi: 10.1111/jcmm.13841
PMCID:
PMC6201214
AbstractArticlePDF–968K
5.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
6.
CDHR1 mutations in retinal dystrophies
Katarina Stingl, Anja K. Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G. Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh
Sci Rep. 2017; 7: 6992. Published online 2017 Aug 1. doi: 10.1038/s41598-017-07117-8
PMCID:
PMC5539332
AbstractArticlePDF–4.7M
7.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
8.
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy
Konstantinos Nikopoulos, Almudena Avila-Fernandez, Marta Corton, Maria Isabel Lopez-Molina, Raquel Perez-Carro, Lara Bontadelli, Silvio Alessandro Di Gioia, Olga Zurita, Blanca Garcia-Sandoval, Carlo Rivolta, Carmen Ayuso
Sci Rep. 2015; 5: 13902. Published online 2015 Sep 9. doi: 10.1038/srep13902
PMCID:
PMC4642573
AbstractArticlePDF–961K
9.
Clinical characteristics of early retinal disease due to CDHR1 mutation
Rola Ba-Abbad, Panagiotis I. Sergouniotis, Vincent Plagnol, Anthony G. Robson, Michel Michaelides, Graham E. Holder, Andrew R. Webster
Mol Vis. 2013; 19: 2250–2259. Published online 2013 Nov 16.
PMCID:
PMC3834600
AbstractArticlePDF–3.3M
10.
Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration
Jacque L. Duncan, Austin Roorda, Mili Navani, Sangeetha Vishweswaraiah, Reema Syed, Shiri Soudry, Kavitha Ratnam, Harini V. Gudiseva, Pauline Lee, Terry Gaasterland, Radha Ayyagari
Arch Ophthalmol. Author manuscript; available in PMC 2013 Oct 19.
Published in final edited form as: Arch Ophthalmol. 2012 Oct; 130(10): 1301–1308. doi: 10.1001/archophthalmol.2012.1906
PMCID:
PMC3799916
AbstractArticlePDF–1.1M
11.
A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy
Ben Cohen, Elena Chervinsky, Haneen Jabaly-Habib, Stavit A. Shalev, Daniel Briscoe, Tamar Ben-Yosef
Mol Vis. 2012; 18: 2915–2921. Published online 2012 Dec 1.
PMCID:
PMC3519373
AbstractArticlePDF–871K
12.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
13.
Mindbomb 1, an E3 ubiquitin ligase, forms a complex with RYK to activate Wnt/β-catenin signaling
Jason D. Berndt, Atsushi Aoyagi, Peitzu Yang, Jamie N. Anastas, Lan Tang, Randall T. Moon
J Cell Biol. 2011 Sep 5; 194(5): 737–750. doi: 10.1083/jcb.201107021
PMCID:
PMC3171123
AbstractArticlePDF–3.3M
14.
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
E Ostergaard, M Batbayli, M Duno, K Vilhelmsen, T Rosenberg
J Med Genet. 2010 Oct; 47(10): 665–669. Published online 2010 Aug 30. doi: 10.1136/jmg.2009.069120
PMCID:
PMC2976051
AbstractArticlePDF–597K
15.
Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members
Heather M. Elledge, Piotr Kazmierczak, Peter Clark, Jeremiah S. Joseph, Anand Kolatkar, Peter Kuhn, Ulrich Müller
Proc Natl Acad Sci U S A. 2010 Jun 8; 107(23): 10708–10712. Published online 2010 Jun 8. doi: 10.1073/pnas.1006284107
PMCID:
PMC2890781
AbstractArticlePDF–974K
16.
Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans
Robert H. Henderson, Zheng Li, Mai M. Abd El Aziz, Donna S. Mackay, Mohammad A. Eljinini, Marwan Zeidan, Anthony T. Moore, Shomi S. Bhattacharya, Andrew R. Webster
Mol Vis. 2010; 16: 46–52. Published online 2010 Jan 15.
PMCID:
PMC2806159
AbstractArticlePDF–1.1M
17.
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
Zhenglin Yang, Yali Chen, Concepcion Lillo, Jeremy Chien, Zhengya Yu, Michel Michaelides, Martin Klein, Kim A. Howes, Yang Li, Yuuki Kaminoh, Haoyu Chen, Chao Zhao, Yuhong Chen, Youssef Tawfik Al-Sheikh, Goutam Karan, Denis Corbeil, Pascal Escher, Shin Kamaya, Chunmei Li, Samantha Johnson, Jeanne M. Frederick, Yu Zhao, Changguan Wang, D. Joshua Cameron, Wieland B. Huttner, Daniel F. Schorderet, Frances L. Munier, Anthony T. Moore, David G. Birch, Wolfgang Baehr, David M. Hunt, David S. Williams, Kang Zhang
J Clin Invest. 2008 Aug 1; 118(8): 2908–2916. Published online 2008 Jul 24. doi: 10.1172/JCI35891
Correction in:
J Clin Invest. 2009 May 1; 119(5): 1396.
PMCID:
PMC2483685
AbstractArticlePDF–982K
18.
A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease
Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate
Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851
PMCID:
PMC1380225
AbstractArticlePDF–329K
19.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K
20.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

You are here: NCBI > Literature > PubMed Central (PMC)
Support Center