Expanding the phenotype of ATP6AP1 deficiency

S Hosahalli Vasanna, J Dalal - Frontiers in Immunology, 2023 - frontiersin.org

With the discovery of novel diseases and pathways, as well as a new outlook on certain
existing diseases, cellular trafficking disorders attract a great deal of interest and focus …

被引用次数：2 相关文章所有 5 个版本

Lumbosacral spinal proteomic changes during PAR4-induced persistent bladder pain

S Ye, NM Agalave, F Ma, DFD Mahmood, A Al-Grety… - Neuroscience …, 2024 - Elsevier

Repeated intravesical activation of protease-activated receptor-4 (PAR4) in mice results in
persistent bladder hyperalgesia (BHA). We investigated spinal proteomic changes …

被引用次数：1 相关文章所有 4 个版本

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[HTML][HTML] Metabolic Acidosis Results in Sexually Dimorphic Response in the Heart Tissue

Y Liu, A Atiq, A Peterson, M Moody, A Novin… - Metabolites, 2023 - mdpi.com

Metabolic acidosis (MA) is a highly prevalent disorder in a significant proportion of the
population, resulting from imbalance in blood pH homeostasis. The heart, being an organ …

被引用次数：2 相关文章所有 9 个版本

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

B Morales-Romero, G Muñoz-Pujol, R Artuch… - Molecular Genetics and …, 2024 - Elsevier

The diagnosis of Mendelian disorders has notably advanced with integration of whole
exome and genome sequencing (WES and WGS) in clinical practice. However, challenges …

[PDF][PDF] Kshitiz Metabolic Acidosis Results in Sexually Dimorphic Response in the Heart Tissue. Metabolites 2023, 13, 549

Y Liu, A Atiq, A Peterson, M Moody, A Novin… - 2023 - pdfs.semanticscholar.org

Metabolic acidosis (MA) is a highly prevalent disorder in a significant proportion of the
population, resulting from imbalance in blood pH homeostasis. The heart, being an organ …