PMC Links for GEO Profiles (Select 56920052) - PMC

Select item 100642251.

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, The Genomics England Research Consortium, Solve-RD consortium, Gaurav K. Varshney, Siddharth Banka

HGG Adv. 2023 Apr 13; 4(2): 100186. Published online 2023 Mar 3. doi: 10.1016/j.xhgg.2023.100186

PMCID:: PMC10064225

Abstract Article PDF–4.3M

Select item 92229132.

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

Eman A. Rabie, Inas S. M. Sayed, Khalda Amr, Hoda A. Ahmed, Mostafa I. Mostafa, Nehal F. Hassib, Heba El-Sayed, Suher K. Zada, Ghada El-Kamah

Genes (Basel) 2022 Jun; 13(6): 1056. Published online 2022 Jun 13. doi: 10.3390/genes13061056

PMCID:: PMC9222913

Abstract Article PDF–9.1M

Select item 83619733.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Bradley Bowles, Alejandro Ferrer, Carla J. Nishimura, Filippo Pinto e Vairo, Tristan Rey, Bruno Leheup, Jennifer Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dario Cocciadiferro, Abigail Williams, Alex Cummings, Sara Loddo, Silvia Genovese, Chelsea Roadhouse, Kirsty McWalter, Undiagnosed Diseases Network, Ingrid M. Wentzensen, Chumei Li, Dusica Babovic‐Vuksanovic, Brendan C. Lanpher, Maria Lisa Dentici, Arun Ankala, J. Austin Hamm, Bruno Dallapiccola, Francesca Clementina Radio, Vandana Shashi, Benedicte Gérard, Agnes Bloch‐Zupan, Richard J. Smith, Eric W. Klee

Am J Med Genet A. 2021 Aug; 185(8): 2417–2433. Published online 2021 May 27. doi: 10.1002/ajmg.a.62347

PMCID:: PMC8361973

Abstract Article PDF–4.8M

Select item 61656734.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

Renqian Du, Nuriye Dinckan, Xiaofei Song, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Lauren E. Petty, Donna M. Muzny, Jennifer E. Below, Eric Boerwinkle, Nan Wu, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Ariadne Letra, Z. Oya Uyguner

Hum Genet. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Hum Genet. 2018 Sep; 137(9): 689–703. Published online 2018 Jul 26. doi: 10.1007/s00439-018-1907-y

PMCID:: PMC6165673

Abstract Article PDF–942K

Select item 50651195.

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

Alon Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas-Volkov, Marina Eskin-Schwartz, Christopher A. Adase, Natalia Malchin, Ron Bochner, Gilad Fainberg, Ilan Goldberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, Chen Luxenburg, Noam Adir, Olivier Duverger, Maria Morasso, Stavit Shalev, Richard L. Gallo, Noam Shomron, Ralf Paus, Eli Sprecher

PLoS Genet. 2016 Oct; 12(10): e1006369. Published online 2016 Oct 13. doi: 10.1371/journal.pgen.1006369

PMCID:: PMC5065119

Abstract Article PDF–2.4M

Select item 31780596.

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 29528577.

Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters

Hans-Jörg Warnatz, Robert Querfurth, Anna Guerasimova, Xi Cheng, Stefan A. Haas, Andrew L. Hufton, Thomas Manke, Dominique Vanhecke, Wilfried Nietfeld, Martin Vingron, Michal Janitz, Hans Lehrach, Marie-Laure Yaspo

Nucleic Acids Res. 2010 Oct; 38(18): 6112–6123. Published online 2010 May 21. doi: 10.1093/nar/gkq402

PMCID:: PMC2952857

Abstract Article PDF–4.0M

Select item 5289288.

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

Select item 1392419.

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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