Pollard L - Search Results

1

Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).

Sohn YB, Wang R, Ashworth J, Broqua P, Tallandier M, Abitbol JL, Jozwiak E, Pollard L, Wood TC, Aslam T, Harmatz PR. Sohn YB, et al. Among authors: pollard l. Mol Genet Metab Rep. 2023 Dec 28;38:101041. doi: 10.1016/j.ymgmr.2023.101041. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38234862 Free PMC article.

2

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L. Kondo Y, et al. Among authors: pollard l. JCI Insight. 2018 Jul 26;3(14):e121596. doi: 10.1172/jci.insight.121596. eCollection 2018 Jul 26. JCI Insight. 2018. PMID: 30046013 Free PMC article.

3

Hematopoietic stem cell transplant for Hurler syndrome: does using bone marrow or umbilical cord blood make a difference?

Orchard PJ, Gupta AO, Eisengart JB, Polgreen LE, Pollard LM, Braunlin E, Pasquali M, Lund TC. Orchard PJ, et al. Blood Adv. 2022 Dec 13;6(23):6023-6027. doi: 10.1182/bloodadvances.2022007212. Blood Adv. 2022. PMID: 35476057 Free PMC article. No abstract available.

4

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.

M Rindler P, Clark RM, Pollard LM, De Biase I, Bidichandani SI. M Rindler P, et al. Nucleic Acids Res. 2006;34(21):6352-61. doi: 10.1093/nar/gkl846. Epub 2006 Nov 16. Nucleic Acids Res. 2006. PMID: 17142224 Free PMC article.

5

Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence.

Pollard LM, Bourn RL, Bidichandani SI. Pollard LM, et al. Nucleic Acids Res. 2008 Feb;36(2):489-500. doi: 10.1093/nar/gkm1066. Epub 2007 Nov 27. Nucleic Acids Res. 2008. PMID: 18045804 Free PMC article.

6

E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence.

Bourn RL, Rindler PM, Pollard LM, Bidichandani SI. Bourn RL, et al. Among authors: pollard lm. Mutat Res. 2009 Feb 10;661(1-2):71-7. doi: 10.1016/j.mrfmmm.2008.11.003. Epub 2008 Nov 13. Mutat Res. 2009. PMID: 19046977 Free PMC article.

7

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. Morrone A, et al. Among authors: pollard l. Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Mol Genet Metab. 2014. PMID: 24726177 Free PMC article.

8

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.

Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ. Sohn YB, et al. Among authors: pollard l. Mol Genet Metab Rep. 2022 May 3;31:100875. doi: 10.1016/j.ymgmr.2022.100875. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782621 Free PMC article.

9

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome.

DeLong K, Feigenbaum A, Pollard L, Lay A, Wood T. DeLong K, et al. Among authors: pollard l. Mol Genet Metab Rep. 2022 Oct 7;33:100920. doi: 10.1016/j.ymgmr.2022.100920. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36245961 Free PMC article.

10

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.

Hong X, Pollard L, He M, Gelb MH, Wood TC. Hong X, et al. Among authors: pollard l. Mol Genet Metab Rep. 2023 May 16;35:100978. doi: 10.1016/j.ymgmr.2023.100978. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 37275682 Free PMC article.

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