PMC Links for Nucleotide (Select 1519313874) - PMC

Select item 69980791.

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar, Mohammad Ali Faghihi

BMC Med Genet. 2020; 21: 22. Published online 2020 Feb 3. doi: 10.1186/s12881-020-0959-8

PMCID:: PMC6998079

Abstract Article PDF–809K

Select item 66423322.

Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia

Ding An, Andrea Frassetto, Eric Jacquinet, Marianne Eybye, Joseph Milano, Christine DeAntonis, Vi Nguyen, Rodrigo Laureano, Jaclyn Milton, Staci Sabnis, Christine M. Lukacs, Lin T. Guey

EBioMedicine. 2019 Jul; 45: 519–528. Published online 2019 Jul 12. doi: 10.1016/j.ebiom.2019.07.003

PMCID:: PMC6642332

Abstract Article PDF–2.2M

Select item 64351713.

Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation

Sara Haydar, Florin Grigorescu, Mădălina Vintilă, Yannick Cogne, Corinne Lautier, Yildiz Tutuncu, Jean Frederic Brun, Jean Marie Robine, Michel Pugeat, Christophe Normand, Patrick Poucheret, Monica Livia Gheorghiu, Carmen Georgescu, Corin Badiu, Nicoleta Băculescu, Eric Renard, Dorina Ylli, Stephanie Badiou, Thibault Sutra, Jean Paul Cristol, Jacques Mercier, Ramon Gomis, Josep Maria Macias, Serghey Litvinov, Elza Khusnutdinova, Catalina Poiana, Renato Pasquali, Davide Lauro, Giorgio Sesti, Sabrina Prudente, Vincenzo Trischitta, Agathocles Tsatsoulis, Sonia Abdelhak, Abdelhamid Barakat, Akila Zenati, Agron Ylli, Ilhan Satman, Timo Kanninen, Yves Rinato, Sasa Missoni

PLoS One. 2019; 14(3): e0214122. Published online 2019 Mar 26. doi: 10.1371/journal.pone.0214122

PMCID:: PMC6435171

Abstract Article PDF–1.7M

Select item 4428644.

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

A M Crane, R Jansen, E R Andrews, F D Ledley

J Clin Invest. 1992 Feb; 89(2): 385–391. doi: 10.1172/JCI115597

PMCID:: PMC442864

Summary Page Browse PDF–1.5M

Select item 2950265.

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

M L Raff, A M Crane, R Jansen, F D Ledley, D S Rosenblatt

J Clin Invest. 1991 Jan; 87(1): 203–207. doi: 10.1172/JCI114972

PMCID:: PMC295026

Summary Page Browse PDF–1012K

Select item 65655466.

Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing

Sha Hong, Li Wang, Dongying Zhao, Yonghong Zhang, Yan Chen, Jintong Tan, Lili Liang, Tianwen Zhu

Mol Genet Genomic Med. 2019 Jun; 7(6): e684. Published online 2019 Apr 9. doi: 10.1002/mgg3.684

PMCID:: PMC6565546

Abstract Article PDF–931K

Select item 59772077.

Validation of Ion Torrent^TM Inherited Disease Panel with the PGM^TM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan

Genes (Basel) 2018 May; 9(5): 267. Published online 2018 May 22. doi: 10.3390/genes9050267

PMCID:: PMC5977207

Abstract Article PDF–424K

Select item 58243938.

TAT‐MTS‐MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM‐deficient cells

Tal Erlich‐Hadad, Rita Hadad, Anat Feldman, Hagar Greif, Michal Lictenstein, Haya Lorberboum‐Galski

J Cell Mol Med. 2018 Mar; 22(3): 1601–1613. Published online 2017 Dec 19. doi: 10.1111/jcmm.13435

PMCID:: PMC5824393

Abstract Article PDF–574K

Select item 50111109.

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening

Kyoung-Jin Park, Seungman Park, Eunhee Lee, Jong-Ho Park, June-Hee Park, Hyung-Doo Park, Soo-Youn Lee, Jong-Won Kim

Ann Lab Med. 2016 Nov; 36(6): 561–572. Published online 2016 Aug 24. doi: 10.3343/alm.2016.36.6.561

PMCID:: PMC5011110

Abstract Article PDF–344K

Select item 381357510.

Inferring Polymorphism-Induced Regulatory Gene Networks Active in Human Lymphocyte Cell Lines by Weighted Linear Mixed Model Analysis of Multiple RNA-Seq Datasets

Wensheng Zhang, Andrea Edwards, Erik K. Flemington, Kun Zhang

PLoS One. 2013; 8(10): e78868. Published online 2013 Oct 30. doi: 10.1371/journal.pone.0078868

PMCID:: PMC3813575

Abstract Article PDF–826K

Select item 361385811.

Differential regulation of genes for feto-placental lipid pathways in pregnancy with gestational and type 1 diabetes

T Radaelli, J Lepercq, A Varastehpour, S Basu, PM Catalano, S Hauguel-de Mouzon

Am J Obstet Gynecol. Author manuscript; available in PMC 2013 Apr 2.

Published in final edited form as: Am J Obstet Gynecol. 2009 Aug; 201(2): 209.e1–209.e10. Published online 2009 Jun 26. doi: 10.1016/j.ajog.2009.04.019

PMCID:: PMC3613858

Abstract Article PDF–2.7M

Select item 278547312.

CD38/CD31 interactions activate genetic pathways leading to proliferation and migration in chronic lymphocytic leukemia cells

Silvia Deaglio, Semra Aydin, Maurizia Mello Grand, Tiziana Vaisitti, Luciana Bergui, Giovanni D’Arena, Giovanna Chiorino, Fabio Malavasi

Mol Med. 2010 Mar-Apr; 16(3-4): 87–91. Published online 2009 Nov 28. doi: 10.2119/molmed.2009.00146

PMCID:: PMC2785473

Abstract Article PDF–245K

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