PMC Links for Nucleotide (Select 1677500101) - PMC

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Items: 13

Select item 65607441.

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan, Jingming Shi

BMC Med Genet. 2019; 20: 105. Published online 2019 Jun 11. doi: 10.1186/s12881-019-0840-9

PMCID:: PMC6560744

Abstract Article PDF–3.4M

Select item 63383602.

Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma

Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Susana Alexandre-Moreno, Laura Morales, Carmen-Dora Méndez-Hernández, Julián García-Feijoo, Julio Escribano

PLoS One. 2019; 14(1): e0211029. Published online 2019 Jan 18. doi: 10.1371/journal.pone.0211029

PMCID:: PMC6338360

Abstract Article PDF–2.3M

Select item 225313.

Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene

Hirofumi Arakawa, Tatsuya Nakamura, Alexander B. Zhadanov, Vincenzo Fidanza, Takahiro Yano, Florencia Bullrich, Masayoshi Shimizu, Janna Blechman, Alexander Mazo, Eli Canaani, Carlo M. Croce

Proc Natl Acad Sci U S A. 1998 Apr 14; 95(8): 4573–4578. doi: 10.1073/pnas.95.8.4573

PMCID:: PMC22531

Abstract Article PDF–352K

Select item 63507214.

Canonical WNT Signaling Pathway is Altered in Mesenchymal Stromal Cells From Acute Myeloid Leukemia Patients And Is Implicated in BMP4 Down-Regulation

Pedro L. Azevedo, Nathalia C.A. Oliveira, Stephany Corrêa, Morgana T.L. Castelo-Branco, Eliana Abdelhay, Renata Binato

Transl Oncol. 2019 Apr; 12(4): 614–625. Published online 2019 Jan 28. doi: 10.1016/j.tranon.2019.01.003

PMCID:: PMC6350721

Abstract Article PDF–760K

Select item 50652985.

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis

Alessandro Salvi, Edoardo Giacopuzzi, Elena Bardellini, Francesca Amadori, Lia Ferrari, Giuseppina De Petro, Giuseppe Borsani, Alessandra Majorana

Int J Mol Med. 2016 Nov; 38(5): 1338–1348. Published online 2016 Sep 19. doi: 10.3892/ijmm.2016.2742

PMCID:: PMC5065298

Abstract Article PDF–932K

Select item 49300796.

Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences

Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Carmen-Dora Méndez-Hernández, Laura Morales, Maite García-Antón, Julián García-Feijoo, Julio Escribano

Eur J Hum Genet. 2016 May; 24(5): 672–680. Published online 2015 Jul 29. doi: 10.1038/ejhg.2015.169

PMCID:: PMC4930079

Abstract Article PDF–2.1M

Select item 38643677.

Prevalence and Spectrum of PITX2c Mutations Associated with Congenital Heart Disease

Juan Wang, Yuan-Feng Xin, Wen-Jun Xu, Zhong-Min Liu, Xing-Biao Qiu, Xin-Kai Qu, Lei Xu, Xin Li, Yi-Qing Yang

DNA Cell Biol. 2013 Dec; 32(12): 708–716. doi: 10.1089/dna.2013.2185

PMCID:: PMC3864367

Abstract Article PDF–546K

Select item 30590328.

The Matricellular Protein Cysteine-rich Protein 61 (CCN1/Cyr61) Enhances Physiological Adaptation of Retinal Vessels and Reduces Pathological Neovascularization Associated with Ischemic Retinopathy

Adeel Hasan, Nataliya Pokeza, Lynn Shaw, Hyun-Seung Lee, Douglas Lazzaro, Hemabindu Chintala, Daniel Rosenbaum, Maria B. Grant, Brahim Chaqour

J Biol Chem. 2011 Mar 18; 286(11): 9542–9554. Published online 2011 Jan 6. doi: 10.1074/jbc.M110.198689

PMCID:: PMC3059032

Abstract Article PDF–2.9M

Select item 29936769.

The two most common histological subtypes of malignant germ cell tumour are distinguished by global microRNA profiles, associated with differential transcription factor expression

Matthew J Murray, Harpreet K Saini, Stijn van Dongen, Roger D Palmer, Balaji Muralidhar, Mark R Pett, Matias Piipari, Claire M Thornton, James C Nicholson, Anton J Enright, Nicholas Coleman

Mol Cancer. 2010; 9: 290. Published online 2010 Nov 8. doi: 10.1186/1476-4598-9-290

PMCID:: PMC2993676

Abstract Article PDF–1.7M

Select item 282842210.

Analysis of meniscal degeneration and meniscal gene expression

Yubo Sun, David R Mauerhan, Patrick R Honeycutt, Jeffrey S Kneisl, James H Norton, Edward N Hanley, Jr, Helen E Gruber

BMC Musculoskelet Disord. 2010; 11: 19. Published online 2010 Jan 28. doi: 10.1186/1471-2474-11-19

PMCID:: PMC2828422

Abstract Article PDF–1.1M

Select item 267975911.

Functional annotation of the human retinal pigment epithelium transcriptome

Judith C Booij, Simone van Soest, Sigrid MA Swagemakers, Anke HW Essing, Annemieke JMH Verkerk, Peter J van der Spek, Theo GMF Gorgels, Arthur AB Bergen

BMC Genomics. 2009; 10: 164. Published online 2009 Apr 20. doi: 10.1186/1471-2164-10-164