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Items: 11

1.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
Laura Pignata, Francesco Cecere, Ankit Verma, Bruno Hay Mele, Maria Monticelli, Basilia Acurzio, Carlo Giaccari, Angela Sparago, Jose Ramon Hernandez Mora, Ana Monteagudo-Sánchez, Manel Esteller, Arrate Pereda, Jair Tenorio-Castano, Orazio Palumbo, Massimo Carella, Paolo Prontera, Carmelo Piscopo, Maria Accadia, Pablo Lapunzina, Maria Vittoria Cubellis, Guiomar Perez de Nanclares, David Monk, Andrea Riccio, Flavia Cerrato
Clin Epigenetics. 2022; 14: 71. Published online 2022 May 28. doi: 10.1186/s13148-022-01292-w
PMCID:
PMC9148495
AbstractArticlePDF–1.1M
2.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
3.
KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells
Weidao Zhang, Zhongliang Chen, Dengfeng Zhang, Bo Zhao, Lu Liu, Zhengyuan Xie, Yonggang Yao, Ping Zheng
PLoS Biol. 2019 Oct; 17(10): e3000468. Published online 2019 Oct 14. doi: 10.1371/journal.pbio.3000468
PMCID:
PMC6812846
AbstractArticlePDF–4.9M
4.
ECAT1 is essential for human oocyte maturation and pre-implantation development of the resulting embryos
Changyu Liu, Min Li, Tianjie Li, Hongcui Zhao, Jin Huang, Yun Wang, Qian Gao, Yang Yu, Qinghua Shi
Sci Rep. 2016; 6: 38192. Published online 2016 Dec 5. doi: 10.1038/srep38192
PMCID:
PMC5137016
AbstractArticlePDF–1.1M
5.
TLE6 mutation causes the earliest known human embryonic lethality
Anas M. Alazami, Salma M. Awad, Serdar Coskun, Saad Al-Hassan, Hadia Hijazi, Firdous M. Abdulwahab, Coralie Poizat, Fowzan S. Alkuraya
Genome Biol. 2015; 16: 240. Published online 2015 Nov 5. doi: 10.1186/s13059-015-0792-0
PMCID:
PMC4634911
AbstractArticlePDF–1.3M
6.
No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility
L. Aghajanova, S. Mahadevan, S. Altmäe, A. Stavreus-Evers, L. Regan, N. Sebire, P. Dixon, R.A. Fisher, I.B. Van den Veyver
Hum Reprod. 2015 Jan; 30(1): 232–238. Published online 2014 Nov 5. doi: 10.1093/humrep/deu296
PMCID:
PMC4262469
AbstractArticlePDF–172K
7.
No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles
Sangeetha Kaveri Mahadevan, Shu Wen, Alfred Balasa, Gary Fruhman, Julio Mateus, Andrew Wagner, Tarek Al-Hussaini, Ignatia Barbara Van den Veyver
Prenat Diagn. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: Prenat Diagn. 2013 Dec; 33(13): 1242–1247. Published online 2013 Oct 4. doi: 10.1002/pd.4239
PMCID:
PMC3951116
AbstractArticlePDF–440K
8.
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7
Ramesh Reddy, Elie Akoury, Ngoc Minh Phuong Nguyen, Omar A Abdul-Rahman, Christine Dery, Neerja Gupta, William P Daley, Asangla Ao, Hanene Landolsi, Rosemary Ann Fisher, Isabelle Touitou, Rima Slim
Eur J Hum Genet. 2013 Sep; 21(9): 957–964. Published online 2012 Dec 12. doi: 10.1038/ejhg.2012.274
PMCID:
PMC3746251
AbstractArticlePDF–2.4M
9.
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
10.
Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
David A. Parry, Clare V. Logan, Bruce E. Hayward, Michael Shires, Hanène Landolsi, Christine Diggle, Ian Carr, Cécile Rittore, Isabelle Touitou, Laurent Philibert, Rosemary A. Fisher, Masoumeh Fallahian, John D. Huntriss, Helen M. Picton, Saghira Malik, Graham R. Taylor, Colin A. Johnson, David T. Bonthron, Eamonn G. Sheridan
Am J Hum Genet. 2011 Sep 9; 89(3): 451–458. doi: 10.1016/j.ajhg.2011.08.002
PMCID:
PMC3169823
AbstractArticlePDF–682K
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

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