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Items: 12

1.
Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India
Shiwali Goyal, Ravijit Singh, Jai Rup Singh, Vanita Vanita
BMC Genomics. 2024; 25: 31. Published online 2024 Jan 4. doi: 10.1186/s12864-023-09880-7
PMCID:
PMC10765620
AbstractArticlePDF–4.5M
2.
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family
Vanita Berry, Kaoru Fujinami, Kiyofumi Mochizuki, Takeshi Iwata, Nikolas Pontikos, Roy A. Quinlan, Michel Michaelides
Ophthalmic Genet. 2022; 43(5): 622–626. Published online 2022 Jun 23. doi: 10.1080/13816810.2022.2090010
PMCID:
PMC9612932
AbstractArticlePDF–1.6M
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.
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
5.
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts
Bushra Irum, Shahid Y. Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O. Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A. Nasir, Shaheen N. Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O. Eghrari, S. Amer Riazuddin
PLoS One. 2016; 11(11): e0162620. Published online 2016 Nov 4. doi: 10.1371/journal.pone.0162620
PMCID:
PMC5096708
AbstractArticlePDF–1.9M
6.
Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation
Manèl Chograni, Myriam Chaabouni, Faouzi Mâazoul, Hedi Bouzid, Abdelhafid Kraiem, Habiba B Bouhamed Chaabouni
BMC Ophthalmol. 2011; 11: 35. Published online 2011 Nov 21. doi: 10.1186/1471-2415-11-35
PMCID:
PMC3258189
AbstractArticlePDF–345K
7.
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
8.
Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study
Zhou Zhou, Binbin Wang, Shanshan Hu, Chunmei Zhang, Xu Ma, Yanhua Qi
Mol Vis. 2011; 17: 621–626. Published online 2011 Feb 26.
PMCID:
PMC3049737
AbstractArticlePDF–459K
9.
A missense mutation in LIM2 causes autosomal recessive congenital cataract
Surya Prakash G. Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Jyoti Matalia, Chitra Kannabiran
Mol Vis. 2008; 14: 1204–1208. Published online 2008 Jun 23.
PMCID:
PMC2442473
AbstractArticlePDF–1.9M
10.
A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family
Eran Pras, Etgar Levy-Nissenbaum, Tangiz Bakhan, Hadas Lahat, Ehud Assia, Noa Geffen-Carmi, Moshe Frydman, Boleslaw Goldman, Elon Pras
Am J Hum Genet. 2002 May; 70(5): 1363–1367. Published online 2002 Mar 26. doi: 10.1086/340318
PMCID:
PMC447612
AbstractArticlePDF–337K
11.
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
12.
MP20, the second most abundant lens membrane protein and member of the tetraspanin superfamily, joins the list of ligands of galectin-3
Tamir Gonen, Angus C Grey, Marc D Jacobs, Paul J Donaldson, Joerg Kistler
BMC Cell Biol. 2001; 2: 17. Published online 2001 Aug 14. doi: 10.1186/1471-2121-2-17
PMCID:
PMC48140
AbstractArticlePDF–1.9M

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