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Select item 107200981.

Two novel mutations within FREM1 gene in patients with bifid nose

Xiaoxue Chen, Baofu Yu, Zi Wang, Qingfeng Li, Chuanchang Dai, Jiao Wei

BMC Pediatr. 2023; 23: 631. Published online 2023 Dec 14. doi: 10.1186/s12887-023-04453-9

PMCID:: PMC10720098

Abstract Article PDF–1.4M

Select item 89608842.

High level of plasma TILRR protein is associated with faster HIV seroconversion

Mohammad Abul Kashem, Jennifer Lischynski, Brittany Stojak, Lin Li, Xin-Yong Yuan, Binhua Liang, Joshua Kimani, Francis A Plummer, Ma Luo

EBioMedicine. 2022 Apr; 78: 103955. Published online 2022 Mar 24. doi: 10.1016/j.ebiom.2022.103955

PMCID:: PMC8960884

Abstract Article PDF–888K

Select item 83071943.

Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation

Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee

Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572

PMCID:: PMC8307194

Abstract Article PDF–2.8M

Select item 77747394.

Elevated expression of FREM1 in breast cancer indicates favorable prognosis and high‐level immune infiltration status

Han‐ning Li, Xing‐rui Li, Zheng‐tao Lv, Miao‐miao Cai, Ge Wang, Zhi‐fang Yang

Cancer Med. 2020 Dec; 9(24): 9554–9570. Published online 2020 Oct 14. doi: 10.1002/cam4.3543

PMCID:: PMC7774739

Abstract Article PDF–3.4M

Select item 64031655.

Toll-like Interleukin 1 Receptor Regulator Is an Important Modulator of Inflammation Responsive Genes

Mohammad Abul Kashem, Hongzhao Li, Nikki Pauline Toledo, Robert Were Omange, Binhua Liang, Lewis Ruxi Liu, Lin Li, Xuefen Yang, Xin-Yong Yuan, Jason Kindrachuk, Francis A. Plummer, Ma Luo

Front Immunol. 2019; 10: 272. Published online 2019 Feb 28. doi: 10.3389/fimmu.2019.00272

PMCID:: PMC6403165

Abstract Article PDF–6.7M

Select item 62516126.

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos

Qian Yu, Bingying Lin, Shangqian Xie, Song Gao, Wei Li, Yizhi Liu, Hongwei Wang, Danping Huang, Zhi Xie

Hum Mol Genet. 2018 Jul 1; 27(13): 2357–2366. Published online 2018 Apr 24. doi: 10.1093/hmg/ddy144

PMCID:: PMC6251612

Abstract Article PDF–806K

Select item 54048427.

Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2

Myoung Keun Lee, John R. Shaffer, Elizabeth J. Leslie, Ekaterina Orlova, Jenna C. Carlson, Eleanor Feingold, Mary L. Marazita, Seth M. Weinberg

PLoS One. 2017; 12(4): e0176566. Published online 2017 Apr 25. doi: 10.1371/journal.pone.0176566

PMCID:: PMC5404842

Abstract Article PDF–5.6M

Select item 42949428.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker

J Med Genet. Author manuscript; available in PMC 2015 Jan 15.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 375–382. Published online 2011 Apr 20. doi: 10.1136/jmg.2011.089631

PMCID:: PMC4294942

Abstract Article PDF–1.3M

Select item 41479869.

Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

Stefan Kohl, Daw-Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Natasa Stajic, Radovan Bogdanovic, Heiko M. Reutter, Elijah O. Kehinde, Velibor Tasic, Friedhelm Hildebrandt

J Am Soc Nephrol. 2014 Sep; 25(9): 1917–1922. Published online 2014 Apr 3. doi: 10.1681/ASN.2013101103

PMCID:: PMC4147986

Abstract Article

Select item 358175410.

Novel FREM1 Mutations Expand the Phenotypic Spectrum Associated with Manitoba-Oculo-Tricho-Anal (MOTA) Syndrome and Bifid Nose Renal Agenesis Anorectal Malformations (BNAR) Syndrome

Jared Nathanson, Daniel T. Swarr, Amihood Singer, Mochi Liu, Amy Chinn, Wendy Jones, Jane Hurst, Nahla Khalek, Elaine Zackai, Anne Slavotinek

Am J Med Genet A. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Am J Med Genet A. 2013 Mar; 161(3): 473–478. Published online 2013 Feb 8. doi: 10.1002/ajmg.a.35736

PMCID:: PMC3581754

Abstract Article PDF–530K

Select item 356191511.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Tyler F. Beck, Danielle Veenma, Oleg A. Shchelochkov, Zhiyin Yu, Bum Jun Kim, Hitisha P. Zaveri, Yolande van Bever, Sunju Choi, Hannie Douben, Terry K. Bertin, Pragna I. Patel, Brendan Lee, Dick Tibboel, Annelies de Klein, David W. Stockton, Monica J. Justice, Daryl A. Scott

Hum Mol Genet. 2013 Mar 1; 22(5): 1026–1038. Published online 2012 Dec 5. doi: 10.1093/hmg/dds507

Correction in:: Hum Mol Genet. 2020 Mar 15; 29(6): 1054.

PMCID:: PMC3561915

Abstract Article PDF–1.0M

Select item 348629712.

A Genetic Polymorphism of FREM1 Is Associated with Resistance against HIV Infection in the Pumwani Sex Worker Cohort

Ma Luo, James Sainsbury, Jeffrey Tuff, Philip A. Lacap, Xin-Yong Yuan, Taha Hirbod, Joshua Kimani, Charles Wachihi, Sue Ramdahin, Thomas Bielawny, Joanne Embree, Kristina Broliden, T. Blake Ball, Francis A. Plummer

J Virol. 2012 Nov; 86(21): 11899–11905. doi: 10.1128/JVI.01499-12

PMCID:: PMC3486297

Abstract Article PDF–2.0M

Select item 336989613.

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome

Robertino Karlo Mateo, Royce Johnson, Ordan J. Lehmann

Mol Vis. 2012; 18: 1301–1311. Published online 2012 May 30.

PMCID:: PMC3369896

Abstract Article PDF–824K

Select item 332098414.

Distinct Control of MyD88 Adapter-dependent and Akt Kinase-regulated Responses by the Interleukin (IL)-1RI Co-receptor, TILRR

Xiao Zhang, Gemma Montagut Pino, Freya Shephard, Endre Kiss-Toth, Eva E. Qwarnstrom

J Biol Chem. 2012 Apr 6; 287(15): 12348–12352. Published online 2012 Jan 19. doi: 10.1074/jbc.C111.321711

PMCID:: PMC3320984

Abstract Article PDF–1.4M

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 316954116.

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga, Kieran M. Short, Fenny Wiradjaja, Irene M. Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L. Cunningham, Peter J. Anderson, Simeon A. Boyadjiev, Maria Rita Passos-Bueno, Joris A. Veltman, Ian Smyth, Michael F. Buckley, Tony Roscioli

PLoS Genet. 2011 Sep; 7(9): e1002278. Published online 2011 Sep 8. doi: 10.1371/journal.pgen.1002278