PMC Links for GEO Profiles (Select 60872029) - PMC

Select item 91484951.

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

Abstract Article PDF–1.1M

Select item 71699832.

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

Abstract Article PDF–5.4M

Select item 68128463.

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

Abstract Article PDF–4.9M

Select item 51370164.

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

Abstract Article PDF–1.1M

Select item 46349115.

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

Abstract Article PDF–1.3M

Select item 42624696.

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

Abstract Article PDF–172K

Select item 39511167.

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

Abstract Article PDF–440K

Select item 37462518.

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

Abstract Article PDF–2.4M

Select item 31780599.

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 316982310.

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

Abstract Article PDF–682K

Select item 13924111.

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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