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Select item 100351481.

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

Nobia Aziz, Mukhtar Ullah, Abdur Rashid, Zubair Hussain, Khadim Shah, Azeem Awan, Muhammad Khan, Inam Ullah, Atta Ur Rehman

BMC Ophthalmol. 2023; 23: 116. Published online 2023 Mar 23. doi: 10.1186/s12886-023-02845-0

PMCID:: PMC10035148

Abstract Article PDF–1.4M

Select item 98085512.

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration

Riccardo Sangermano, Pooja Biswas, Lori S. Sullivan, Emily M. Place, Shyamanga Borooah, Juerg Straubhaar, Eric A. Pierce, Stephen P. Daiger, Kinga M. Bujakowska, Radha Ayaggari

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006247. doi: 10.1101/mcs.a006247

PMCID:: PMC9808551

Abstract Article PDF–3.0M

Select item 94347293.

Photoreceptor phosphodiesterase (PDE6): structure, regulatory mechanisms, and implications for treatment of retinal diseases

Rick H. Cote, Richa Gupta, Michael J. Irwin, Xin Wang

Adv Exp Med Biol. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Adv Exp Med Biol. 2022; 1371: 33–59. doi: 10.1007/5584_2021_649

PMCID:: PMC9434729

Abstract Article PDF–2.5M

Select item 87612664.

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families

Yuyu Li, Ruyi Li, Hehua Dai, Genlin Li

BMC Ophthalmol. 2022; 22: 27. Published online 2022 Jan 15. doi: 10.1186/s12886-021-02242-5

PMCID:: PMC8761266

Abstract Article PDF–7.3M

Select item 81650305.

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 79568186.

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl

Int J Mol Sci. 2021 Mar; 22(5): 2374. Published online 2021 Feb 27. doi: 10.3390/ijms22052374

PMCID:: PMC7956818

Abstract Article PDF–1.4M

Select item 78839287.

Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes

Aymane Bouzidi, Majida Charif, Adil Bouzidi, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers

Mol Vis. 2021; 27: 17–25. Published online 2021 Jan 15.

PMCID:: PMC7883928

Abstract Article PDF–1.5M

Select item 76589908.

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

You Na Kim, Joon Seon Song, Seak Hee Oh, Yoon Jeon Kim, Young Hee Yoon, Eul-Ju Seo, Chang Ahn Seol, Sae-Mi Lee, Jong-Moon Choi, Go Hun Seo, Changwon Keum, Beom Hee Lee, Joo Yong Lee

Sci Rep. 2020; 10: 19540. Published online 2020 Nov 11. doi: 10.1038/s41598-020-75902-z

PMCID:: PMC7658990

Abstract Article PDF–1.9M

Select item 65678419.

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

Samer Khateb, Marco Nassisi, Kinga M. Bujakowska, Cécile Méjécase, Christel Condroyer, Aline Antonio, Marine Foussard, Vanessa Démontant, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo

JAMA Ophthalmol. 2019 Jun; 137(6): 669–679. Published online 2019 Apr 18. doi: 10.1001/jamaophthalmol.2018.6367

PMCID:: PMC6567841

Abstract Article

Select item 638651210.

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef

Mol Vis. 2019; 25: 155–164. Published online 2019 Feb 22.

PMCID:: PMC6386512

Abstract Article PDF–1.9M

Select item 413076511.

Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase

Sherry Shen, Tharikarn Sujirakul, Stephen H. Tsang

Ophthalmic Genet. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Ophthalmic Genet. 2014 Sep; 35(3): 142–150. Published online 2014 May 14. doi: 10.3109/13816810.2014.915328

PMCID:: PMC4130765

Abstract Article PDF–385K

Select item 371849212.

Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

Nitza Goldenberg-Cohen, Eyal Banin, Yael Zalzstein, Ben Cohen, Ygal Rotenstreich, Leah Rizel, Lina Basel-Vanagaite, Tamar Ben-Yosef

Mol Vis. 2013; 19: 1565–1571. Published online 2013 Jul 20.

PMCID:: PMC3718492

Abstract Article PDF–917K

Select item 351083913.

Identification of Amino Acid Residues Responsible for the Selectivity of Tadalafil Binding to Two Closely Related Phosphodiesterases, PDE5 and PDE6

Karyn B. Cahill, Jonathan H. Quade, Karen L. Carleton, Rick H. Cote

J Biol Chem. 2012 Nov 30; 287(49): 41406–41416. Published online 2012 Oct 2. doi: 10.1074/jbc.M112.389189

PMCID:: PMC3510839

Abstract Article PDF–3.0M

Select item 346259714.

Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa

Cinoo Kim, Kwang Joong Kim, Jeong Bok, Eun-Ju Lee, Dong-Joon Kim, Ji Hee Oh, Sung Pyo Park, Joo Young Shin, Jong-Young Lee, Hyeong Gon Yu

Mol Vis. 2012; 18: 2398–2410. Published online 2012 Sep 25.

PMCID:: PMC3462597

Abstract Article PDF–985K

Select item 317805915.

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 310889516.

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa

Shahbaz Ali, S. Amer Riazuddin, Amber Shahzadi, Idrees A. Nasir, Shaheen N. Khan, Tayyab Husnain, Javed Akram, Paul A. Sieving, J. Fielding Hejtmancik, Sheikh Riazuddin

Mol Vis. 2011; 17: 1373–1380. Published online 2011 May 25.

PMCID:: PMC3108895

Abstract Article PDF–6.0M

Select item 300096417.

Rod phosphodiesterase-6 PDE6A and PDE6B Subunits Are Enzymatically Equivalent

Hakim Muradov, Kimberly K. Boyd, Nikolai O. Artemyev

J Biol Chem. 2010 Dec 17; 285(51): 39828–39834. Published online 2010 Oct 12. doi: 10.1074/jbc.M110.170068

PMCID:: PMC3000964

Abstract Article PDF–940K

Select item 298620918.

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

Mounira Hmani-Aifa, Zeineb Benzina, Fareeha Zulfiqar, Houria Dhouib, Amber Shahzadi, Abdelmonem Ghorbel, Ahmed Rebaï, Peter Söderkvist, Sheikh Riazuddin, William J Kimberling, Hammadi Ayadi

Eur J Hum Genet. 2009 Apr; 17(4): 474–482. Published online 2008 Oct 15. doi: 10.1038/ejhg.2008.167

PMCID:: PMC2986209

Abstract Article PDF–276K

Select item 271325819.

Regulatory sequences in the 3’ Untranslated region of the human cGMP-Phosphodiesterase β-Subunit gene

Mark R. Verardo, Andrea Viczian, Natik Piri, Barry E. Knox, Debora B. Farber

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Jul 20.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Jun; 50(6): 2591–2598. Published online 2009 Feb 14. doi: 10.1167/iovs.08-2010

PMCID:: PMC2713258

Abstract Article PDF–560K

Select item 52892820.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

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