PMC Links for Nucleotide (Select 1519241584) - PMC

Result Filters

Links from Nucleotide

Items: 13

Select item 59857201.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Valerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, Peter N Kundert, Bum-Jun Kim, Shalini N Jhangiani, Tomasz Gambin, Molly Starkovich, Jaya Punetha, Ingrid S Paine, Jennifer E Posey, Alexander H Li, Donna Muzny, Chih-Wei Hsu, Amber J Lashua, Xin Sun, Caraciolo J Fernandes, Mary E Dickinson, Kevin P Lally, Richard A Gibbs, Eric Boerwinkle, James R Lupski, Daryl A Scott

Hum Mol Genet. 2018 Jun 15; 27(12): 2064–2075. Published online 2018 Mar 28. doi: 10.1093/hmg/ddy110

PMCID:: PMC5985720

Abstract Article PDF–810K

Select item 41479862.

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 37629243.

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls

Wei-Dong Li, Hongxiao Jiao, Kai Wang, Clarence Zhang, Joseph T. Glessner, Struan F.A. Grant, Hongyu Zhao, Hakon Hakonarson, R. Arlen Price

Obesity (Silver Spring) Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Obesity (Silver Spring). 2013 Sep; 21(9): E490–E494. Published online 2013 May 24. doi: 10.1002/oby.20303

PMCID:: PMC3762924

Abstract Article PDF–308K

Select item 10502674.

The clinical spectrum of the Fraser syndrome: report of three new cases and review.

J Gattuso, M A Patton, M Baraitser

J Med Genet. 1987 Sep; 24(9): 549–555. doi: 10.1136/jmg.24.9.549

PMCID:: PMC1050267

Summary Page Browse PDF–1.3M

Select item 57798725.

Gene screening facilitates diagnosis of complicated symptoms: A case report

Hong Duan, Di Zhang, Jing Cheng, Yu Lu, Huijun Yuan

Mol Med Rep. 2017 Dec; 16(6): 7915–7922. Published online 2017 Sep 22. doi: 10.3892/mmr.2017.7590

PMCID:: PMC5779872

Abstract Article PDF–1023K

Select item 50183246.

Role of MSX1 in Osteogenic Differentiation of Human Dental Pulp Stem Cells

Noriko Goto, Katsumi Fujimoto, Sakiko Fujii, Hiroko Ida-Yonemochi, Hayato Ohshima, Takeshi Kawamoto, Mitsuhide Noshiro, Chisa Shukunami, Katsuyuki Kozai, Yukio Kato

Stem Cells Int. 2016; 2016: 8035759. Published online 2016 Aug 28. doi: 10.1155/2016/8035759

PMCID:: PMC5018324

Abstract Article PDF–1.7M

Select item 49606027.

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

Reuben J. Pengelly, Liliana Arias, Julio Martínez, Rosanna Upstill-Goddard, Eleanor G. Seaby, Jane Gibson, Sarah Ennis, Andrew Collins, Ignacio Briceño

Sci Rep. 2016; 6: 30457. Published online 2016 Jul 26. doi: 10.1038/srep30457

PMCID:: PMC4960602

Abstract Article PDF–471K

Select item 42404988.

Global expression profile in low grade meningiomas and schwannomas shows upregulation of PDGFD, CDH1 and SLIT2 compared to their healthy tissue

MIGUEL TORRES-MARTIN, LUIS LASSALETTA, ALBERTO ISLA, JOSE M. DE CAMPOS, GIOVANNY R. PINTO, ROMMEL R. BURBANO, JAVIER S. CASTRESANA, BARBARA MELENDEZ, JUAN A. REY

Oncol Rep. 2014 Dec; 32(6): 2327–2334. Published online 2014 Oct 3. doi: 10.3892/or.2014.3526

PMCID:: PMC4240498

Abstract Article PDF–345K

Select item 38360129.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

Pawaree Saisawat, Velibor Tasic, Virginia Vega-Warner, Elijah O. Kehinde, Barbara Günther, Rannar Airik, Jeffrey W. Innis, Bethan E. Hoskins, Julia Hoefele, Edgar A. Otto, Friedhelm Hildebrandt

Kidney Int. Author manuscript; available in PMC 2013 Nov 21.

Published in final edited form as: Kidney Int. 2012 Jan; 81(2): 10.1038/ki.2011.315. Published online 2011 Sep 7. doi: 10.1038/ki.2011.315

PMCID:: PMC3836012

Abstract Article PDF–1.0M

Select item 379705710.

bfb, a Novel ENU-Induced blebs Mutant Resulting from a Missense Mutation in Fras1

Kerry A. Miller, Christopher T. Gordon, Megan F. Welfare, Georgina Caruana, John F. Bertram, John F. Bateman, Peter G. Farlie

PLoS One. 2013; 8(10): e76342. Published online 2013 Oct 15. doi: 10.1371/journal.pone.0076342

PMCID:: PMC3797057

Abstract Article PDF–1.5M

Select item 338019211.

Benfotiamine increases glucose oxidation and downregulates NADPH oxidase 4 expression in cultured human myotubes exposed to both normal and high glucose concentrations

D. A. Fraser, N. P. Hessvik, N. Nikolić, V. Aas, K. F. Hanssen, S. K. Bøhn, G. H. Thoresen, A. C. Rustan

Genes Nutr. 2012 Jul; 7(3): 459–469. Published online 2011 Oct 9. doi: 10.1007/s12263-011-0252-8

PMCID:: PMC3380192

Abstract Article PDF–266K

Select item 312783712.

HPV16 E2 could act as down-regulator in cellular genes implicated in apoptosis, proliferation and cell differentiation

Eric Ramírez-Salazar, Federico Centeno, Karen Nieto, Armando Valencia-Hernández, Mauricio Salcedo, Efraín Garrido

Virol J. 2011; 8: 247. Published online 2011 May 20. doi: 10.1186/1743-422X-8-247

PMCID:: PMC3127837

Abstract Article PDF–362K

Select item 288229813.

Modulation of the Vitamin D3 response by cancer-associated mutant p53

Perry Stambolsky, Yuval Tabach, Giulia Fontemaggi, Lilach Weisz, Revital Maor-Aloni, Idit Shiff, Ira Kogan, Moshe Shay, Eyal Kalo, Giovanni Blandino, Itamar Simon, Moshe Oren, Varda Rotter

Cancer Cell. Author manuscript; available in PMC 2010 Sep 16.

Published in final edited form as: Cancer Cell. 2010 Mar 16; 17(3): 273–285. doi: 10.1016/j.ccr.2009.11.025