PMC Links for GEO Profiles (Select 3644934) - PMC

Select item 91408081.

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

Abstract Article PDF–3.1M

Select item 81827862.

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

Abstract Article PDF–1.2M

Select item 81650303.

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

Abstract Article PDF–2.2M

Select item 62012144.

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

Abstract Article PDF–968K

Select item 61666825.

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

Abstract Article PDF–3.8M

Select item 55393326.

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

Abstract Article PDF–4.7M

Select item 55316117.

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

Abstract Article PDF–2.7M

Select item 46425738.

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

Abstract Article PDF–961K

Select item 38346009.

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

Abstract Article PDF–3.3M

Select item 379991610.

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

Abstract Article PDF–1.1M

Select item 351937311.

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

Abstract Article PDF–871K

Select item 317805912.

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

Abstract Article PDF–1.0M

Select item 317112313.

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

Abstract Article PDF–3.3M

Select item 297605114.

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

Abstract Article PDF–597K

Select item 289078115.

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

Abstract Article PDF–974K

Select item 280615916.

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

Abstract Article PDF–1.1M

Select item 248368517.

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

Abstract Article PDF–982K

Select item 138022518.

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

Abstract Article PDF–329K

Select item 135612919.

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

Abstract Article PDF–438K

Select item 13924120.

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

Abstract Article PDF–118K

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