Tyler Mark Pierson
Overview
Explore the profile of Tyler Mark Pierson including associated specialties, affiliations and a list of published articles.
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42
Citations
1061
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Recent Articles
1.
Sabeh P, Dumas S, Maios C, Daghar H, Korzeniowski M, Rousseau J, et al.
Am J Hum Genet
. 2024 Dec;
112(1):75-86.
PMID: 39721588
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29...
2.
Xu Y, Song R, Perszyk R, Chen W, Kim S, Park K, et al.
Cell Mol Life Sci
. 2024 Mar;
81(1):153.
PMID: 38538865
N-methyl-D-aspartate receptors (NMDARs) are members of the glutamate receptor family and participate in excitatory postsynaptic transmission throughout the central nervous system. Genetic variants in GRIN genes encoding NMDAR subunits are...
3.
Otero M, Kim J, Kushwaha Y, Rajewski A, Nonis F, Santiskulvong C, et al.
bioRxiv
. 2024 Feb;
PMID: 38352418
Neuronal ceroid lipofuscinosis (NCL), type 6 (CLN6) is a neurodegenerative disorder associated with progressive neurodegeneration leading to dementia, seizures, and retinopathy. encodes a resident-ER protein involved in trafficking lysosomal proteins...
4.
Abad C, Robayo M, Muniz-Moreno M, Bernardi M, Otero M, Kosanovic C, et al.
Transl Psychiatry
. 2024 Jan;
14(1):33.
PMID: 38238293
GATAD2B (GATA zinc finger domain containing 2B) variants are associated with the neurodevelopmental syndrome GAND, characterized by intellectual disability (ID), infantile hypotonia, apraxia of speech, epilepsy, macrocephaly and distinct facial...
5.
Macnamara E, Loydpierson A, Latour Y, DSouza P, Murphy J, Wolfe L, et al.
Mol Genet Metab
. 2023 Oct;
140(3):107707.
PMID: 37883914
Purpose: The NIH Undiagnosed Diseases Program (UDP) aims to provide diagnoses to patients who have previously received exhaustive evaluations yet remain undiagnosed. Patients undergo procedural anesthesia for deep phenotyping for...
6.
Werren E, Guxholli A, Jones N, Wagner M, Hannibal I, Granadillo J, et al.
HGG Adv
. 2023 May;
4(3):100198.
PMID: 37181331
GATA zinc finger domain containing 2A (GATAD2A) is a subunit of the nucleosome remodeling and deacetylase (NuRD) complex. NuRD is known to regulate gene expression during neural development and other...
7.
Xie L, McDaniel M, Perszyk R, Kim S, Cappuccio G, Shapiro K, et al.
Cell Mol Life Sci
. 2023 Mar;
80(4):110.
PMID: 37000222
The short pre-M1 helix within the S1-M1 linker (also referred to as the pre-M1 linker) between the agonist-binding domain (ABD, S1) and the M1 transmembrane helix of the NMDA receptor...
8.
Ishida M, Otero M, Freeman C, Sanchez-Lara P, Guardia C, Pierson T, et al.
Hum Mol Genet
. 2022 Nov;
32(7):1162-1174.
PMID: 36345169
ADP-ribosylation factor 1 (ARF1) is a small GTPase that regulates membrane traffic at the Golgi apparatus and endosomes through recruitment of several coat proteins and lipid-modifying enzymes. Here, we report...
9.
Schirwani S, Woods E, Koolen D, Ockeloen C, Lynch S, Kavanagh K, et al.
Am J Med Genet A
. 2022 Sep;
191(1):29-36.
PMID: 36177608
De novo truncating and splicing pathogenic variants in the Additional Sex Combs-Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic...
10.
Wiessner M, Maroofian R, Ni M, Pedroni A, Muller J, Stucka R, et al.
Brain
. 2021 Sep;
144(8):e70.
PMID: 34480796
No abstract available.