Výsledky vyhledávání - "Michael H, Ngo"

Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4

Autor: Sarah R. van der Ende, Benjamin S. Meyers, Jenina E. Capasso, Mario Sasongko, Yoshihiro Yonekawa, Matthew Pihlblad, Jennifer Huey, Emma C. Bedoukian, Ian D. Krantz, Michael H. Ngo, Christopher R. McMaster, Alex V. Levin, Johane M. Robitaille

Publikováno v: JAMA ophthalmology. 140(9)

ImportanceFamilial exudative vitreoretinopathy (FEVR) is a nonsyndromic autosomal dominant retinal disorder commonly caused by variants in the FZD4 gene. This study investigates the potential role beyond ocular abnormalities for FZD4 gene variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a6b978aec1b84f563092060ee3276d
https://pubmed.ncbi.nlm.nih.gov/35951321

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Akademický článek

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression

Autor: Carlos R. Morales, Lubov S. Grigoryeva, Xuefang Pan, Luigi Bruno, Gilles Hickson, Michael H. Ngo, Christopher R. McMaster, Mark E. Samuels, Alexey V. Pshezhetsky

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 407-411 (2014)

Heterozygous mutations in the UBIAD1 gene cause Schnyder corneal dystrophy characterized by abnormal cholesterol and phospholipid deposits in the cornea. Ubiad1 protein was recently identified as Golgi prenyltransferase responsible for biosynthesis o

Externí odkaz: https://doaj.org/article/cfd9cf3fbd0747f3aa66e5d116e39e7b

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Akademický článek

Fzd4 Haploinsufficiency Delays Retinal Revascularization in the Mouse Model of Oxygen Induced Retinopathy.

Autor: Michael H Ngo, Joanna Borowska-Fielding, Godfrey Heathcote, Sara Nejat, Melanie E Kelly, Christopher R McMaster, Johane M Robitaille

Publikováno v: PLoS ONE, Vol 11, Iss 8, p e0158320 (2016)

Mutations in genes that code for components of the Norrin-FZD4 ligand-receptor complex cause the inherited childhood blinding disorder familial exudative vitreoretinopathy (FEVR). Statistical evidence from studies of patients at risk for the acquired

Externí odkaz: https://doaj.org/article/2c02dad2af0b47a1b2910246e0a0dc0e

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Choline Transport Activity Regulates Phosphatidylcholine Synthesis through Choline Transporter Hnm1 Stability

Autor: Michael H. Ngo, Christopher R. McMaster, J. Pedro Fernández-Murray

Publikováno v: Journal of Biological Chemistry. 288:36106-36115

Choline is a precursor for the synthesis of phosphatidylcholine through the CDP-choline pathway. Saccharomyces cerevisiae expresses a single high affinity choline transporter at the plasma membrane, encoded by the HNM1 gene. We show that exposing cel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83b4d6e7204158e96be0d1f236942c99
https://doi.org/10.1074/jbc.m113.499855

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