Robert W Mason
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Explore the profile of Robert W Mason including associated specialties, affiliations and a list of published articles.
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Articles
67
Citations
1800
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Recent Articles
1.
Sampson V, Vetter N, Zhang W, Patil P, Mason R, George E, et al.
Oncotarget
. 2024 Oct;
15:725.
PMID: 39392376
No abstract available.
2.
Halakos E, Connell A, Glazewski L, Wei S, Mason R
J Proteomics
. 2020 Dec;
232:104068.
PMID: 33278663
Neuroblastoma is the second most common pediatric cancer involving the peripheral nervous system in which stage IVS metastatic tumors regress due to spontaneous differentiation. 13-cis retinoic acid (13-cis RA) is...
3.
Barnum C, Al Saai S, Patel S, Cheng C, Anand D, Xu X, et al.
Hum Mol Genet
. 2020 May;
29(12):2076-2097.
PMID: 32420594
Mutations of the RNA granule component TDRD7 (OMIM: 611258) cause pediatric cataract. We applied an integrated approach to uncover the molecular pathology of cataract in Tdrd7-/- mice. Early postnatal Tdrd7-/-...
4.
Arunkumar N, Langan T, Stapleton M, Kubaski F, Mason R, Singh R, et al.
J Hum Genet
. 2020 Apr;
65(7):557-567.
PMID: 32277174
Mucopolysaccharidoses (MPS) are a subtype of lysosomal storage disorders (LSDs) characterized by the deficiency of the enzyme involved in the breakdown of glycosaminoglycans (GAGs). Mucopolysaccharidosis type I (MPS I, Hurler...
5.
Khan S, Mason R, Kobayashi H, Yamaguchi S, Tomatsu S
Mol Genet Metab
. 2020 Apr;
130(2):101-109.
PMID: 32247585
Background: Glycosaminoglycans (GAGs) are negatively charged long linear (highly sulfated) polysaccharides consisting of repeating disaccharide units that are expressed on the surfaces of all nucleated cells. The expression of GAGs...
6.
Stapleton M, Kubaski F, Mason R, Shintaku H, Kobayashi H, Yamaguchi S, et al.
Mol Genet Metab Rep
. 2020 Jan;
22:100563.
PMID: 31956510
Mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders which can lead to degenerative and irreversible skeletal, cardiovascular, pulmonary, and neurological damage. Current treatments, including hematopoietic stem cell transplantation and...
7.
Halakos E, Connell A, Glazewski L, Wei S, Mason R
J Proteomics
. 2019 Sep;
209:103491.
PMID: 31472280
Neuroblastoma, a cancer of the sympathetic nervous system, is the second most common pediatric cancer. A unique feature of neuroblastoma is remission in some patients due to spontaneous differentiation of...
8.
Chen H, Sawamoto K, Mason R, Kobayashi H, Yamaguchi S, Suzuki Y, et al.
J Hum Genet
. 2019 Aug;
64(11):1153-1171.
PMID: 31455839
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, which lack an enzyme corresponding to the specific type of MPS. Enzyme replacement therapy (ERT) has been the standard therapeutic option...
9.
Doherty C, Stapleton M, Piechnik M, Mason R, Mackenzie W, Yamaguchi S, et al.
J Hum Genet
. 2019 Apr;
64(7):625-635.
PMID: 31019230
Mucopolysaccharidosis IVA (MPS IVA) is a degenerative systemic skeletal dysplasia, in which children exhibit marked short stature and become physically handicapped. This study evaluated the growth patterns of patients treated...
10.
Fujitsuka H, Sawamoto K, Peracha H, Mason R, Mackenzie W, Kobayashi H, et al.
Mol Genet Metab Rep
. 2019 Feb;
19:100455.
PMID: 30775257
Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore...