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Jacob J Hagen

Explore the profile of Jacob J Hagen including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 91
Followers 0
Related Specialties
Genetics
Cell Biology
Top 10 Co-Authors
Wendy K Chung
Yufeng Shen
Nicholas W Morrell
Alan P Kenny
Yicheng Guo
Michael W Pauciulo
Anna W Coleman
Richard C Trembath
Guojie Zhong
Na Zhu
Published In
Genome Med
HGG Adv
BMC Cell Biol
Hum Mutat
Autophagy
Affiliations
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Recent Articles
1.
Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas
Zhong G, Ahimaz P, Edwards N, Hagen J, Faure C, Lu Q, et al.
HGG Adv . 2022 Jul; 3(3):100126. PMID: 35800210
[This corrects the article DOI: 10.1016/j.xhgg.2022.100107.].
2.
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas
Zhong G, Ahimaz P, Edwards N, Hagen J, Faure C, Lu Q, et al.
HGG Adv . 2022 May; 3(3):100107. PMID: 35519826
Esophageal atresias/tracheoesophageal fistulas (EA/TEF) are rare congenital anomalies caused by aberrant development of the foregut. Previous studies indicate that rare or genetic variants significantly contribute to EA/TEF risk, and most...
3.
Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Zhu N, Swietlik E, Welch C, Pauciulo M, Hagen J, Zhou X, et al.
Genome Med . 2021 Jun; 13(1):106. PMID: 34158098
No abstract available.
4.
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Zhu N, Swietlik E, Welch C, Pauciulo M, Hagen J, Zhou X, et al.
Genome Med . 2021 May; 13(1):80. PMID: 33971972
Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be...
5.
HEPES activates a MiT/TFE-dependent lysosomal-autophagic gene network in cultured cells: A call for caution
Tol M, van der Lienden M, Gabriel T, Hagen J, Scheij S, Veenendaal T, et al.
Autophagy . 2018 Feb; 14(3):437-449. PMID: 29455584
In recent years, the lysosome has emerged as a highly dynamic, transcriptionally regulated organelle that is integral to nutrient-sensing and metabolic rewiring. This is coordinated by a lysosome-to-nucleus signaling nexus...
6.
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss
Webb B, Wheeler P, Hagen J, Cohen N, Linderman M, Diaz G, et al.
Hum Mutat . 2015 Mar; 36(6):587-92. PMID: 25754315
Novel, single-nucleotide mutations were identified in the mitochondrial methionyl amino-acyl tRNA synthetase gene (MARS2) via whole exome sequencing in two affected siblings with developmental delay, poor growth, and sensorineural hearing...
7.
Tissue specific expression of myosin IC isoforms
Sielski N, Ihnatovych I, Hagen J, Hofmann W
BMC Cell Biol . 2014 Mar; 15:8. PMID: 24618359
Background: Myosin IC is a single headed member of the myosin superfamily that localizes to the cytoplasm and the nucleus and is implicated in a variety of processes in both...